Below are questions answered by Dr. Noel Keith Maclaren. For more information on Dr. Maclaren click here to download his complete Curriculum Vitae.

APS Effect on Teeth and Eyes

QUESTION

My daughter has severe pitted enamel, and gets cavities VERY easily (she is 20) Her dentist is suggesting crowns for all her teeth. (That would cost in excess of 30,000!) Any thoughts, ideas, etc? Also, her vision has changed significantly lately. Her opthalmologist seems to think it has NOTHING to do with APS. However, I’ve heard of other patients that have had vision trouble related to APS. What specific problems should we watch for?

ANSWER

Enamel hypoplasia of the teeth is a common feature of APS-1. Capping of such teeth is an ideal solution, especially from the cosmetic point of view when the teeth have particularly yellowed appearance. I feel certain that the cost of such capping could be greatly reduced by shopping around, however it will remain an expensive treatment. Eye problems are not an intrinsic component of APS-1 albeit some patients can unusually be troubled with low grade infections of the eye lashes (blepharitis).

Kind regards,
Noel Maclaren MD

Thyroid Replacement and Graves Disease

QUESTION

I have Graves Disease. I was diagnosed in May of 2001. My thyroid was ablated in aug 2001 and I began taking thyroid replacement in Dec. of that year. I tried several T4 preparations and had severe side effects. Insomnia, shortness of breath, rash all over my body, severe muscle spasms in my legs, arms, and neck, my body feels hot all the time and I wake up in the night with severe charlie horses. I have so much confusion I have had to limit my driving. I finally started to feel alittle better after I started taking cytomel alone. My heart rate is anywhere from 70 to 105. I’m now on oxygen 24 hours of day because my oxygen drops into the eightys, I also use a c-pap. My blood pressure stays fairly normal. Everytime I take my thyroid wether it is small doses during the day or twice aday my body goes through the same symptoms. My right eye swells, redens and bulges. my muscles harden in my legs and arms and I have tremors in my neck and hands. I have a red rash all over my body. I have been to seven endocrinologists, including Mayo Clinic and they have no answers. I have my tsh free t3 checked often it fluctuates considerably even at the same dose which is around 37.5 mcg. It can be anywhere from 1.50 to 12. I am 56 years old. I have tried some different types of estrogen but I have a chronic yeast infection which doesm a little better when I don’t use anything. Do you have any suggestions I could sure use some help.

ANSWER

Wow!
Thyroid replacement is usually done with L-thyroxine (T4) alone. This is an only weakly active thyroid hormone. T 4 when taken by pill or secrete by the thyroid gland has a long half life, needing conversion to the active for (T3) largely by the liver. T3 is an active thyroid hormone which has a short half life. When T3 is taken as a pill for replacement of thyroid hormones as in your case, blood levels rise quickly and disappear relatively quickly too, needing doses at multiple times daily.
I have never had a patient who has developed an allergic rash to L-thyroxine personally.
Patients who have Graves’ disease are at increased risk of Addison’s disease or failure of the adrenal gland, albeit the actual risk is small. Addison’s disease can lead to loss of salt (and water) from the body causing weakness and muscle cramps. An increase in skin pigmentation is typically seen also. Addison’s disease in this context can be screened by a blood test for 21-hydroxylase (to detect the disease process) and by afternoon blood levels of the pituitary hormone ACTH, as well as the kidney hormone renin as the body makes its’ efforts to stimulate the failing adrenal gland back into better functioning. Could you explain what the doctors think in the lung problem that requires you to take oxygen?

Kind regards,
Noel Maclaren MD

Autoantibodies and Disease Course Prediction

QUESTION

My question stems from several late diagnoses as a child of various components of APS type 1. I don’t believe my endocrinologist knew I had APS Type 1 or what to look for. I only heard I had APS type 1 when I was diagnosed with severe aneamia due IF antibodies under the care of a different endocrinologist. so my first question is this: Are autoantibodies for the varying diseases associated with APS type 1 always circulating in the body – say from birth – and remain dormant until they decide to “attack” the organ/gland of its interest? For instance, have I always had the autoantibodies for Hypoparathyroidism, addison’s disease, and pernicious anemia? If so, then could testing for them early help to predict the course of APS type 1? Is it possible to have an autoantibody and never develop the disorder? If so, what “triggers” that you know of cause the autoantibodies to start wreaking havoc on
the body? My questions are for one purpose: I’ve had no new disease diagnoses since 2003 and would like to know what to expect for the future (if possible) – I find it hard to know which common symptoms are common and which may indicate a new disease. Thanks!

ANSWER

Autoantibodies in APS-1 do an increased risk for component diseases. They are usually present long before the component disease appears. In the case of antibodies to the enzyme 21-hydroxylase, the predictive rate is high. Early disease detection is a goal herein, and can be identified by rising blood levels of renin (a kidney hormone that stimulates the salt retaining steroid hormones) and ACTH (a pituitary hormone that stimulates glucocorticoids such as cortisol). Blood samples are best taken in the mid afternoon after a 20 minute rest for this purpose. However in the case of type-1 diabetes in APS-1, antibodies to islet cells and to there component enzymes such as glutaminic acid decarboxylase or GAD are commonly seen without diabetes following, although this may happen.

In my practice, I do test for such antibodies and follow positive patients for early warnings of the clinical disease. Some years ago, we found APS-1 patients with hypoparathyroidism to have antibodies against the calcium sensing receptor found on the surface of parathyroid cells. Whereas for a while, others could not confirm our finding, other laboratories eventually did. However our test was difficult to perform and so far, has only been used in a research setting. Recently, colleagues at Oxford University in the UK have found antibodies to the immunologically important cytokines named interferons in all patients with APS-1 whatever the stage of their APS-1 or component organs involved. This suggests that such antibodies can be useful diagnostically and their presence may be essential to the development of the wide spread autoimmunities of APS-1. If so, perhaps an intervention to get rid of such antibodies may eventually be developed as a prev! entative treatment.

Is this APS type I?

QUESTION

Admitted with us at Indira Gandhi Government Medical College, Nagpur, India is a 10year old girl who presented with extreme weakness, lethargy and growth failure. Her bony age was of a 4 year old, mentally dull and gross hyperpigmentation especially in flexural regions, conjunctiva and mucus membranes. She was in DKA and her endocrinologic profile(after treating DKA with insulin drip) was as follows: T3=0.45ng/ml (1.27-2.21) T4=2.60mcg/dl(5.60-14.90) TSH=1.77microIU/ml(0.70-6.40) Sr. Cortisol=29 mcg/dl(5-25) Sr. ACTH=5.2 pg/ml(N) Normal Sodium and potassium.

She is now receiving :
Morning 8am: Isophane Insulin – 14U ; Regular insulin – 4U 1 pm : Regular – 2 U 8 pm : Isophane Insulin – 8U ; Regular insulin – 4U Eltroxin 75ug once daily She has improved and become playful. We have pictures of her that we can share. We are perplexed regarding the hyperpigmentation and high cortisol level..is this a receptor defect?

What other investigations would be helpful?

ANSWER

T1DM is associated with autoimmune thyroid disease in about 1:4 girls in the US at least. The association falls under the umbrella of APS-2. Both of these diseases are uncommon in APS-1. The physicians were very correct to suspect Addison’s disease also in this patient however the test results provided do exclude this disease as the cause of the hyperpigmentation. It is not likely due to antibodies against the steroid receptors since ACTH levels were not elevated, while such receptors are found inside cells and not on the surface of cells where antibodies could react to them.

I might think of wide spread acanthosis nigricans since the associated insulin resistance would lead to diabetes itself and could complicate T1DM. In India, many patients with insulin resistance do not become obese as in the US, albeit they usually have increased amounts of visceral fat. The other thought is to exclude hemochromatosis through measurement of iron components such as ferritin.

Kind regards,
Noel Maclaren MD
BioSeek Endocrine Clinics, New York

Diagnostic Tests

QUESTION

My 22yo son has had episodes (once a year since he was 15) of severe cramping and fatigue when exercising in the heat. A recent episode at college during a golf class resulted in a trip to the ER via ambulance. His symptoms are those classic of hypocalcemia, however his serum Ca was 9.5 while “contracted” at the ER. CBC, CMP, & UA were normal (urine pH 9.0). He has positive Chvostek and Trousseau signs. An endocrinologist has since tested his PTH & found it low three different times (4,9,16). He has never tested low on serum Ca or ionized Ca. His DHEA-s was low at 90. A cotrosyn stimulation test with the standard 250 dose increased his cortisol from a basal of 17.3 to a peak at 60 minutes of 17.9. (basal ACTH and cortisol levels were normal) His endocrinologist is sending us for a second opinion with an endocrinologist that specializes in parathyroid. What tests need to be done to confirm or rule out PGA-1?

ANSWER

APS-1 can be definitively diagnosed from genetic analyses. Happily these are commercially available through the Athena laboratories in Boston. Hypoparathyroidism cannot be supported when the serum calcium levels have been repeatedly normal however. Transient over-breathing or panic hyperventilation is one physiological cause of tetany where the alkalosis induced by the loss of carbon dioxide can reduce the level of ionized or available calcium thereby inducing muscle spasm. One the episode is over, the alkalosis will resolve and the ionized or biologically available portion of calcium with normalize and the tetany resolve. Magnesium deficiency can also result in tetany. On the other hand, the onset of adrenal insufficiency could mask hypoparathyroidism which can become declared when replacement steroids are given. The adrenal studies in the case however appear in aggregate to be normal. Adrenal autoimmunity is hall marked by antibodies to an enz! yme named 21-hydroxylase which is available through commercial laboratories in the US and help exclude this possibility. Antibodies against the calcium sensing receptor have been described in hypoparathyroidism but have only been performed in a research setting. I hope that this information might be helpful.
Kind regards,
Noel Maclaren MD

Teenage Daughter with High HA1c

QUESTION

Dr. MacClaren, Carolyn Gershenson gave me your name a long time ago and raved about you. I’ve known her for many years from our Westchester diabetes support group and she’s been a friend. We’ve been going to Columbia since the Naomi Berrie’s inception, but perhaps it’s time for a change. I hope you can help us. My 14 year old daughter Kelsey has been type 1 since she was 5 1/2 and on an insulin pump for 7 years. Her HA1cs have been consistantly on the higher side–in the 8s until a year ago. She has a bad fear of lows, and I’m not realy sure why. For the last year she has consistantly not bolused enough, or sometimes not at all and lets herself run consistantly high. She’s an athlete and 5’4″ and 106 lbs. She lies when she tells me bg numbers since she knows I will react. Now I’m scared as nothing I say or do seems to be getting through. I’ve tried monitoring her in every way I know how. Tried scaring her, tried clamping down thou! gh I don’t want to make food the issue, and she doesn’t hear me. The HA1cs have been 13 and 14 for a year now. She is not understanding the seriousness of this or that her body and mind would feel better if it were to improve. At this point I would be thrilled with straight 200s!!I am wondering if there is some kind of intervention that can be done. I want her to help herself and also want to understand why she is doing this so we can start the process of changing it around. Do you have any suggestions? Please help!!

ANSWER

Fear of low blood glucose reactions are understandably common and an impediment to getting HbA1c levels down. There are perhaps three possible ways to break the cycle. One is to counsel to set the fear barrier to a lower level. It seems that you have been down the route. Another might be to invest in a continuous SQ monitoring system. We use DEXCOM a lot in our practice. The system is not perfect but will approximate glucose levels every 5 minutes and beep a warning if a low comes. The third id to add Symlin to the mix which lowers blood glucoses for the same rates of insulin infusions. I hope that this is helpful.
Kind regards (from China),
Noel Maclaren MD

DNA Testing for Defective Genes

QUESTION

My nephew has APS Type 1 and my family has been involved in raising money for NORD in order to facilitate research into this disease. Since my nephew has the disease I understand that my sister has the defective gene and there is a one in four chance that I too carry this gene. Is there a genetics test to see if I have the defective gene so that I can assure my daughter who just had her first baby that she does not need to fear APS type 1 affecting her baby? I have a biology degree from SUNY Stony Brook so please do not feel that you have to simplify your responce for me.

ANSWER

You are correct when you speak of your genetic risk. Your chances of passing a defective AIRE gene to your daughter (assuming that you were a carrier) would be only 50% or 1:8 random chance that your daughter could be a carrier. Since APS-1 is recessive, she would need to have married another carrier (a remote chance indeed since APS-1 only occurs in every 1-2 million in the US population. however if you wanted to leave nothing to chance, the AIRE gene mutations can be identified (or not) from a peripheral blood sample sent to Athena laboratories in Boston. The cost is about 500.00+ to you and Athena would bill your insurance for the remainder. Likely your insurance would deny coverage but you would not be more financially liable. You may want to call them directly to be clear with them directly about charges.
Kind regards,
Noel Maclaren MD

Type 1 Diabetes

QUESTION

I am hoping you can help us. My 10 year old niece, Sandy was diagnosed with type 1 diabetes in March 07. She participated in the Protege Study in Nov,07. She completed the two week infusion at St. Barnanbas, Livingston, NJ. Her levels are still erratic, one week her #s are low to normal and the next week her levels sky-rocket. She is following her diet and of course is on a regular schedule with her medication. As you know the next phase is up next month. We are now faced with the decision on weather or not to put her though this again. Of course her doctor recommends completing the study. My question to you is have you seen any cases in which the first course of treatment did not seem successful and the 2nd did? This is very important that we know this as this will help us in determining our decision. Even if there is little chance that this will help our girl, we will go through it again but we dont want to go through this if it will hurt her or have negative side effects. I do understand that this is only at the clinical stage and nothing is guaranteed.

ANSWER

You should ask the physician who is heading the trial about this. This is a study that you are participating in and you have the right to with draw at any stage.

Kind regards,
Noel Maclaren MD

Mystery Diagnosis

QUESTION

Last night I was watching Mystery Diagnosis on TV and saw many similarities between my daughter and Gabby. My daughter has been having recurrent high fevers since she was 3mths old-she is 4 yrs old now. Just about every month she is sick. She will tell me that she dosn’t feel good and the her belly hurts. She will sleep and be lethargic. Motrin will bring the fever down. She has been hospitalized twice. She will have blood in her urine, ketones in her urine and electrolyte inbalance during her fever episodes. We have been to many specialist, and have had many test done. She has also had dental surgery due to lack of enamal on her teeth. We were told that this was most likely caused be her fevers. No one knows why she gets these fevers. I saw the show last night and decided to look up APS on line and found this website. If you have any idea what may be causing these fevers or know what test I should ask to be performed that would be great. Thanks, a concerned mom

ANSWER

You might look up periodic relapsing fevers and Mediterranean fevers to help resolve the diagnosis. However the lack of dental enamel does raise the remote possibility of APS-1. Have any of the blood calcium values been low? What electrolyte disturbances have occurred? A raised potassium especially with low sodium level could mean adrenal deficiency. If so antibodies to 21-hydroylase should be sent. At this age, celiac disease should also be considered (transglutaminase antibody test).
Kind regards,
Noel Maclaren MD

Thyroid and Other Symptoms

QUESTION

My son age 15 began losing weight. Follow up with doctor – LOW thyroid was determined. It took about 6 months to stablize thyroid. Other symptoms were 30 pounds of weight loss, began to eat then felt full and stopped, some diarrea, stomache pain. Ct scans – normal, radiology scans of intestines – normal, endo oscopy/colon oscopy – normal, various blood test – normal. He has seen pediatric endocrine specialist and gastro specialist. Mom’s gut says – he still looks bad and something is still not right – eyes are drawn, he gained about 10 pounds back but is still very thin 5’9″ 130 pds. Could something have been missed? Do I do anything else?

ANSWER

Significant weight loss does not usually accompany hypothyroidism. He should have had thyroid antibodies done to confirm that he has an autoimmune thyroid disease. Assuming so, then he ought to be screened for celiac disease (transglutaminase antibodies), Addison’s disease (21-hydroxylase antibodies) atrophc gastritis (parietal cell antibodies, IgA deficiency and diabetes (GAD and IA-2 antibodies) since he would have some increased risk of these additional problems. Should he have such done if not already done and a positive be found, then please send back the abnormal result and I will explain what needs to be done further. I suppose that he is not taking pills for attention deficit disorder as these can induce weight loss.
Kind regards,
Noel Maclaren MD

Diagnosed with APS 1

QUESTION

Dear Doctor, our 10 yr daughter has been diagnosed with APS 1 when she was around 6 years (after 2 years of illness). Now she has alopecia, HP, rtinopathy (not keratopathy, is there a difference?), and candidiasis on one of her finger. So far she has been stable, although she has sublevels of adernelin. My questions are rather basic: Do you think that genetherapy can be an answer? And how can we explain to her the complexity of her illness without worrying her too much? My husband is a pediatrician and he finds it hard himself as he is also the father. And finally, what is the prognosis for children with this illness? What kind of life can they lead? Thank you for your answers. A worried mom, Norway

ANSWER

Happily most children with APS-1 can lead fairly normal lives. The prognosis for the disease continues to improve as the component diseases are better identified and treated. You should make sure that your daughter is vaccinated against strep pneumoniae as many patients have splenic dysfunctions making them susceptable to this organism. In girls, pubertal development is usually incomplete and needs hormonal replacement. Infertility is unfortunately the rule. I presume that your daughter has been screened for the diseases of APS-1 that require treatment? Please let me know if this has not been done by your doctor. Your husband should consult an endoclinologist with experience with this rare disease to manage her and he should be her unambiguous father. Adrenalin levels are normal in APS-1, however cortisol levels are often low. Has she had a 21-hydroxylase antibody test done? Since the gene for APS-1 has been discovered, the long term hope in tha! t one day, gene therapy may provide an answer. However today, the disease can usually be well managed with greatly improving long term prognosis.
Kind regards,
Noel K Maclaren MD

APS test

QUESTION

hi doctor maclaren, is there a specific test to determine if you have aps type 1? i suffer from a couple of the symptoms outlined and am being treated by a holistic doctor for candidiasis, hypothyroidism, chronic fatigue, etc. thanks.

Also received:

what test are used to diagnose aps 1?

ANSWER

The specific test for APS-1 is a genetics test performed commercially by Athena Labs in Boston, however virtually all APS-1 patients have antibodies in their serum against substances named interferons. However adults with APS-1 have usually developed specific problems such as hypoparathyroidism and/or Addison’s disease during heir childhoods and hypothyroidism is not a usual feature of APS-1. However the more common APS-2 is centered around thyroid autoimmune diseases. The cluster of APS-2 includes T1DM, Addison’s disease and gastric auto-immunity amongst others. There are specific antibody tests available for all of these which you could get your medical doctor to order.
Kind regards,
Noel Maclaren MD

Apeced Type 1 Calcium Malabsorption

QUESTION

17 yr old irish girl malabsorption of calcium in hospital on drip but cannot absorb calcium tried excluding fat from diet with no success talk of infusions every second day any info would be appreciated

ANSWER

Assuming that the diagnosis of APS-1 and hypoparathyroidism are correct, high doses of activated vitamin D (Rocaltrol or Calcitrol 1-3 mcg daily) plus at least 2,000mg oral calcium daily usually control this. If there is a lot of malabsorption going on, fat restriction is a useful thing to do. The magnesium level should be checked if the problem continues also as low levels of magnesium can affect the calcium level adversely. If diarrhea is a problem, consider metroniadazole course to cover invasive giardia. Further IgA levels should be checked as well as antibodies against tissue tranglutaminase to exclude underlying celiac disease or IgA deficiency.
Kind regards,
Noel K Maclaren MD

Epilepsy

QUESTION

Our son was diagnosed with Epilepsy last week and then had an MRI today which showed some white lesions on both temporal lobes. He has to be admitted tomorrow for further testing. Can you please send out an email to see if any one has had a condition know as ADEMS along with their APS. He is going to be tested for ADEMS , MS and cancer. We are concentrating on ADEMS at this time.

ANSWER

— Response from Dr. Maclaren —

They should obtain a GAD antibody titer. It is possible that if the titers were high enough, then it could reduce temporal lobe GABA levels to a point where he could develop epilepsy, usually of a partial type. If true in his case, titers could be lowered (experimentally) by giving a Rituximab infusion.

Noel K Maclaren MD

How is Kawasaki disease as a child linked to Multiple Sclerosis as an adult?

QUESTION

How is Kawasaki disease as a child linked to Multiple Sclerosis as an adult?

ANSWER

I am unaware that is such a link.

Noel Maclaren MD

Adrenal and Testosterone

QUESTION

I have a 34 month old little boy. We have had blood test run and three times his numbers were a little low and testosterone is a one. We have seen genetics and he seems to think ichthyosis vs ectodermal displaysia. He does not sweat darkening scales around face elbows, etc We have seen Endo. and he ran antibody test on adrenal gland and he said numbers are in normal range and wants to retest in 1-2 years. We saw allergist today and he is running humoral immunity test and is getting the endo. to run a ACTH stimulation test. Im confused. I have been told testosterone levels arent important at this age by one doc and been told diff by another. Are they? Going to Gainsville to UF to see Dermatologist. Any suggestions to help get diagnosed? Will not have blood test results back for derm appt.

ANSWER

In boys of you son’s age testosterone levels are not measured since the levels are not helpful because they are normally so low at this age. If I have deduced correctly from your note, The dermatologist suspects that his increased pigmentation could be due to adrenal insufficiency. If a serum level of ACTH (best done on a blood sample taken in the afternoon) is normal, then that diagnosis is most unlikely.
Kind regards,
Noel Maclaren MD

Is this APS Type 1?

QUESTION

Hello, I am wondering about my mom and my aunt. My aunt has many health issues but the one that stood out for me is she has Cyliac. This alone would be a done deal, but it’s her connedtion with my mom that makes me wonder. My mom has been diagnosed with Auto-immune hep. and many more conditions which included hypothiroidism. She is 52 and has many spots over her body due to a failing liver, and I am very concerned. I saw a T.V. show that spoke of APS Tupe 1 and it triggered my questions. I con’t find a list of symptoms on the internet so please let me know if this is something that we should look further into.

ANSWER

Celiac disease and autoimmune liver and thyroid diseases are most commonly a component of APS-2, not APS-1. Your mom should be checked for vitamin B 12 and iron levels since her chances of being deficient in one or both of these is quite high. It would be important since they are also easily treated. Now in respect to you, You should have thyroid antibody tests dome (thyroid peroxidase and thyroglobulin types), plus blood levels of TSH and free T4 since your chance of developing thyroid disease is quite high.

Kind regards,
Noel Maclaren MD

Apeced Patient +Diarrohea+Low Potassium

QUESTION

Thank you for reply before re calcium +irish girl.she is now 18 and in hospital cacium stayed up after vitamin d injection but still has diarrohea and very low potassium even with infusions.trying to stop diarrohea but nothing seems to work .has become very underweight.

ANSWER

Yes diarrhea can be quite a problem with APS-1 and it has several causes. Celiac disease is one. This can be screened for by antibodies (both IgA and IgG subtypes) in the blood for tissue transglutaminase (TTG). Sometimes there is IgA deficiency which can be screened for by a blood test. In the latter case, giardia or bacterial overgrowth of the upper small intestine may be the cause and can be helped by antibiotics or metroniadazole. Patients can also develop autoimmunity to the serotonin rich endocrine cells of the intestine (antibodies against tryptophan hydroxylase which are markers for this problem are I believe not commercially available). The latter may respond to immunosuppressive therapy. In any event, potassium needs to be replaced meantime. Calcium supplements which she needs may help also. Probiotics may be useful. Avoidance of fatty or oily foods will help until the diarrhea has lessened.

Noel Maclaren MD

Calcium and Sicca Syndrome

QUESTION

Question for the Doctor My two and a half year old daughter has recently been diagnosed with APS type 1. She is currently hypocalcemic, but the calcium carbonate suspension and the calcium glubionate syrup we have tried make her vomit. Do you have any other suggestions? Also, my daughter has dry eyes and a severely dry mouth. Her lip biopsy was inconclusive for Sjogren’s. Have you come across these symptoms in APS patients? Do you know of any treatment that has helped?

ANSWER

I have found the sicca syndrome to be a component of APS-1, albeit not before at this young age. You might have your physician check for SS-A and SS-B antibodies when the next blood sample is taken to gather evidence for this. As for the low calcium level, the principle requirement is for activated vitamin D (1,25 dihydroxy-vtamin D analog-Rocaltrol or Calcitriol) coupled with adequate amounts of oral calcium such as in milk and cheese. Has she tried Tums?

Kind regards,
Noel Maclaren MD

APS Symptons

QUESTION

I have severe pain in my head. It first started in my eye, predominently in the right and then fluctuated in the head. No narcotic pain medicine seems to help. It is recurrent and severe. Could this be related to APS?

ANSWER

Dear patient,

Could you provide information about your APS? Headache as such is not a feature of any APS but if you could provide more information, perhaps I can offer quidance.

Kind regards,
Noel Maclaren MD

Chronic Candidiasis

QUESTION

I have been suffering from chronic candidiasis for about 5 yrs. I do have problems with my thyroid and hypoparathyroid. I have autoantibodies to my adrenals. over the last five to six years my docs have been looking only at lymphoma, due to the fact that my oldest brother has nhlymphoma. I looked over some lab work last week from the NIH in washington and noticed that I have the adrenal antibodies. Now that I have pointed out this disease to a few of my docs they think that APS1 is what I have. Do you agree? Also does thrombocytopenia (ITP) go along with this disease.

ANSWER

From your note it does seem that you have the essential elements of APS-1. A genetic confirmation of this is now available through the Athena Labs in Boston. Your doctors might arrange this for you.

How long has the medical community been aware of this disease?

QUESTION

How long has the medical community been aware of this disease? and what are the expectations for adulthood and normal long life? Thank you

ANSWER

APS-1 has been officially known since 1980 when Dr Bob Blizzard Michel Neufeld and I first reported it. Now that the APS-1 is a recognizable and absolutely diagnosable entity, life expectancy should approach normal

Do You Think I Could Have a Hypoparathyroid Problem?

QUESTION

As I write this I am hoping you can help me or guide me in the right direction. For the past 10 years I have had complaints that no doctor can find a result to all of my symptoms. I have been diagnosed with Hashimotos disease (Hypothyroid) and high blood pressure. Every day I have extreme fatigue. I have a strange pinching pain that I feel in my feet daily. My bones hurt me daily and i feel like i have “queasy bones” if that makes any sense. I have severe twitching all over my body (like muscle/nerve twitches) in my face, forearms, calves and hands. I get numbness and tingling in my hands as well. I do suffer severe confusion sometimes that i like to call my brain fog days. Docs have told me that it is probably from hypothyroid, yet my levels with the meds I currently take say they are ok. What i do know is certain things docs have told me of my labs, yet I only seem to have hypothyroid and hbp. Low calcium levels (here all the time), high protein in urine, have calcification spots on bones?, elevated PTH levels, and severely low vitamin D levels. I have also been told I have elevated liver enzymes. I have been tested for hepatitus, MS, diabetes, etc…and all are negative. I take 50,000 IU of Vitamin D prescribed by doc and calcium w/vitamin d over the counter. Nothing seems to be helping??? Do you think i could have a hypoparathyroid problem? Please help…..any answers are greatly appreciated.

ANSWER

Perhaps you should see a rheumatologist. It is improbable that a calcium level would not have been done. I am afraid that APS-1 seems unlikely.

Kind regards,
Noel Maclaren MD

Thyroid Problem

QUESTION

Had Thy. cancer upon remving. thy. damaged parathy. Went about 10 days w/o calcium. since, have trouble with hips, arms pain in legs and feet. very painful. poor endurance. Feels like something attacking body. Been to several phys. cant find anything but sed rate very high. Continue to tell them it is related to surgery they seem not to agree. Any idea?

ANSWER

Damage to the parathyroid glands can complicate thyroid surgery, especially when a total thyroidectomy has been performed for cancer. If this happens, blood calcium levels may fall and not recover after the operation. The result is tetany or wide spread muscle spasms and weakness. However hypoparathyroidism will be evident by abnormally low blood calcium levels. In the absence of the latter, the parathyroid glands are assumed to be
functioning. In surgical hypoparathyroidism, there is a lack of activation of vitamin D. This is overcome by giving a pill (Rocaltrol or Calcitriol) of already activated vitamin D in sufficient dose to normalize blood calcium levels. I hope that this is useful to you.
Kind regards,
Noel Maclaren MD

Adrenal Adenoma and Hypothyroidism

QUESTION

In 2004 I was diagnosed with an adrenal adenoma and hypothyroidism (my level was 138). I take levoxyl daily 125 mcg bid. I also suffered a heart attack, I take iron supplements for anemia and I have experienced a seizure, my teeth are chipping a lot and I am experiencing bone fractures. Do you know of a good endroconologist in the Philadelphia Area? I am not very happy with my current endroconologist. I feel that the only thing that she does is monitor my urine levels. Cortisol is always elevated. What test should I be asking for?

ANSWER

Has the adrenal adenoma been removed? If not, how high are your cortisol levels? Many adrenal adenomas are benign and cause no problems but occasionally they do. Your problems cannot be readily addressed by this format. Do you ever come to New York? If so, my office number is 212-371-0658 for a possible appointment. If you did come, you should bring all lab records for me to review them.
Kind regards,
Noel Maclaren MD

Thyroid Disease, Endometriosis, Celiac Disease and Food Allergies

QUESTION

I have a thyroid disease, endometriosis, celiac disease, food allergies. I have stopped eating all these foods have lost 42 lbs, but I am not feeling any better. I am 31 years old. I am having problems with my teeth, sores on skin also rashes, headaches, severe constipation, hair on head falling out( balding), hair on body growing like crazy, swelling of hands and feet, do not bruise, insominia, pre diabetic. No one can figure out what is going on with me. Could this possibly be APSType1?

ANSWER

No your problems are unlikely due to APS-1 however APS-2 is a possibility since you have both thyroid disease and celiac disease. Since you say that you are pre-diabetic, you should have IA-2 and GAD antibodies checked to exclude that you may be developing T1 diabetes. You should also have 21-hydroxylase antibodies done to exclude adrenal gland autoimmunity too since you have experienced considerable weight loss, albeit you may have been dieting to do this.

Friend Who is Ill

QUESTION

I have a friend who is very ill. His body has been slowly deteriorating over the past 10 years. It started out with him limping, he said, something didn’t feel right with his nerves in his legs. He went from limping to losing the ability to walk altogether. He is now in a wheel chair, lost feeling in his arms/hands and always has “loose” bowel movements. He recently has had problems swallowing, the muscle/skin right before the stomach would not open. The doctors has since operated and removed this muscle/skin. Do you have any idea what this is? Nobody has been able to provide him with proper treatment. Please help my friend, Thomas

ANSWER

Dear Thomas,
What have the doctors told you about is condition? Has he seen a neurologist? If so, does that doctor think that the problem resides in his muscles, nerves or joints? I am afraid that there is too little information for me to suggest possible diagnoses. If you can provide more details, I will be pleased to make suggestions then.
Kind regards,
Noel K Maclaren MD

Kawasaki Disease

QUESTION

At three years old my precious daughter contracted Kawasaki Disease… NOW 30 years old and is and has been having a very challenging health-wise life… she is now handicapped and has been tested a million times by a million doctors with a million blood tests! Some of her tests are POSITIVE for Rheumatoid Arthritis / some tests are NEGATIVE! Some of her tests are POSITIVE for Fibromyalgia / some tests are NEGATIVE! Some of her tests are POSITIVE for Vasculitis / some tests are NEGATIVE! Some of her tests are POSITIVE for Lupus / some tests are NEGATIVE! She had the ANA (antinuclear antibodies) test done…the normal is about 39 – hers was a whopping 390 Her doctors just stand and stare at her… not knowing what to do… I’m frantic and would like someone to find some / any answers! ! ! ! Not too long ago when she lived here in Chicago area, she had a saliva test done and it showed that her hormones were way off also. A little history, she had contacted Kawasaki Disease when she was 3 years old from her day-care center that had just completed carpet cleaning. I don’t understand how that relates but I was told it was the only known way of contracting it. She was in the hospital for 2 weeks and was on high dosage (36) of baby aspirin a day… she had lots of testing done at that time (echo cardiogram, etc) and all were OK. My head is spinning… and I haven’t been able to sleep well. My daughter moved to COLORADO (August 2007) and it being so far away I worry even more. I was hoping the higher climate would do better for her sinus (cause we all “thought” that was the problem). While living in Chicago area her entire life, she has had all sorts of allergy testing years ago, she has been repeatedly diagnosed as having acute sinus issues – so much so she was overly medicated with antibiotics – that screwed up her stomach and digestive tract. They tried a million different things to get rid of the sinus problem (from multiple various antibiotics to having the nasal surgery-last year)… “No one” dug deeper and gave her an assortment of blood tests…. for years….. (for a while she thought she was nutz because all the docs here in Chicago said there was nothing wrong). She goes to Colorado – August 31, 2007 and the first doc she goes to gives her all sorts of tests and finds there actually IS something wrong with her… She has had many appointments with various rheumatologists and they have given her multiple blood tests… some come back POSITIVE and some come back NEGATIVE. One doctor said something about “vasculitis”… and it was an off-shoot of Kawasaki disease. I just want someone to CARE…. and to find out WHAT is wrong with her… so we can work on a plan of care… Thanks for listening to me… I don’t know where else to turn…

ANSWER

Dear Mary,
I am not a rheumatologist, but I would like to know what medical complaints your daughter actually has at present? Many people have positive titers of ANA and yet lack symptoms related to connective tissue autoimmune diseases.
Kind regards,
Noel Maclaren MD

At three years old my precious daughter contracted Kawasaki Disease… NOW 30 years old and is and has been having a very challenging health-wise life… she is now handicapped and has been tested a million times by a million doctors with a million blood tests!

Some of her tests are POSITIVE for Rheumatoid Arthritis / some tests are NEGATIVE!
Some of her tests are POSITIVE for Fibromyalgia / some tests are NEGATIVE!
Some of her tests are POSITIVE for Vasculitis / some tests are NEGATIVE!
Some of her tests are POSITIVE for Lupus / some tests are NEGATIVE!

She had the ANA (antinuclear antibodies) test done…the normal is about 39 – hers was a whopping 390

Her doctors just stand and stare at her… not knowing what to do… I’m frantic and would like someone to find some / any answers! ! ! !

Not too long ago when she lived here in Chicago area, she had a saliva test done and it showed that her hormones were way off also.

A little history, she had contacted Kawasaki Disease when she was 3 years old from her day-care center that had just completed carpet cleaning. I don’t understand how that relates but I was told it was the only known way of contracting it.

She was in the hospital for 2 weeks and was on high dosage (36) of baby aspirin a day… she had lots of testing done at that time (echo cardiogram, etc) and all were OK.

My head is spinning… and I haven’t been able to sleep well. My daughter moved to COLORADO (August 2007) and it being so far away I worry even more. I was hoping the higher climate would do better for her sinus (cause we all “thought” that was the problem).

While living in Chicago area her entire life, she has had all sorts of allergy testing years ago, she has been repeatedly diagnosed as having acute sinus issues – so much so she was overly medicated with antibiotics – that screwed up her stomach and digestive tract. They tried a million different things to get rid of the sinus problem (from multiple various antibiotics to having the nasal surgery-last year)…

“No one” dug deeper and gave her an assortment of blood tests…. for years….. (for a while she thought she was nutz because all the docs here in Chicago said there was nothing wrong).

She goes to Colorado – August 31, 2007 and the first doc she goes to gives her all sorts of tests and finds there actually IS something wrong with her… She has had many appointments with various rheumatologists and they have given her multiple blood tests… some come back POSITIVE and some come back NEGATIVE.

One doctor said something about “vasculitis”… and it was an off-shoot of Kawasaki disease.

My daughter is in such pain… her feet are blue,,,

They had her on predisone for about 2 weeks… then this Immonogolist took her off that and put her on methyltrexate… they want to have her get an IVIG (some sort of infussion) every 28 days…

Just found out she has lost 30 lbs (and she was not a huge fatty by any stretch of the imagination).

I’m so afraid that they keep sending her to different docs… that with so many doctors prescribing so many different meds… (not only is she unable to work – but the $$$ is very difficult to come by… because of the doc visits AND each prescribes a different drug).

One had her on 50,000 of vitamin D every Monday.

Here are just a couple drugs they’ve tried:

  • Zofran
  • Talacen
  • Nasonex
  • Rhyno Chort
  • Lyrica
  • Zanaflex
  • Tizanidine
  • Lunesta
  • Ambien
  • Trazadone
  • Predisone
  • Methyltrexate

Here are some of the tests she has had done:

  • Pee tests
  • Blood tests
  • Blood tests (took 18 tubes for one doc)
  • AntiNecular Antibody
  • Saliva Test
  • Nerve Testing
  • 12 times a day has to take her blood pressure

Here are some of the diagnosis she has been told:

  • Possible Lupus
  • Fungal Sinusitis
  • Fibromylgia
  • Parvo Virus
  • Fifth Disease
  • Rhumatoid Arthritis
  • Srjrogans
  • Vasculitis

Could This Be APS

QUESTION

54yo female with hypothyroidism, hypoparathyroidism, diabetes that comes when electrolytes go south and edema comes on…potassium, magnesium, and sodium go low at will and sugar goes high. I take anywhere from 60 to 240mEq of potassium daily but Do Not maintain a high level. Most of time it goes from 3.2 to 3.7. Hospitalized many times due to low levels. I also take D3, calcium, and magnesium. My physican treats the symptoms as that is all we can do for now. I take januvament 50/500 twice a day and soma for muscle cramps.My physican is willing to send records or speak with you. Creatine and BUN are always low but I am not starving by any means…filled with fluid but not congestive heart failure.

ANSWER

Has your doctor checked the level of your serum proteins, and looked for proteins in your urine? Has he consider liver disease? I presume that you do not have diarrhea since you did not mention it. When and how was the hypoparathyroidism discovered? This is an unusual diagnosis in an adult who has not had thyroid therapy.
Kind regards,
Noel Maclaren MD

Calcium

QUESTION

my daughter has aps type 1 and needs to have 500 of elemental calcium. she takes tums for this, but absolutly hates them. can you recommend something else?

ANSWER

Most of my patients take 500 mg calcium carbonate 3 X daily at 1-2 pills at a time. Such tablets are a bit chalky but usually tolerated. How old is your daughter? Besides her presumed hypoparathyroidism, what other problems does your daughter have?
Kind regards,
Noel Maclaren MD

Another Medical Mystery

QUESTION

My daughter’s story sounds very similar to Gabys. My daughter had asthma and has been tested for celiacs and CF due to contstant issues with her stools since birth. Both tests were negative. She has had Candidiasis since she was very little and nobody could explain why. She will be three in Nov. and still doesn’t have all of her teeth and they have devloped differently. The dentist was concerned about her teeth and actually put her on enamel toothpaste. She is very short and has an extended belly. I myself have MS and Raynauds and a positive Scl 70 & ana. My family on both sides have a history of autoimmune disease. I don’t want to overeact but don’t want ingore any symptoms. Should I mention APS to her docotor? Is there any other symptoms that I should be aware of?

ANSWER

Yes APS-1 should be considered. Have blood calcium and phosphate levels ever been measured since hypoparathyroidism is often encountered about her age in APS-1?
Kind regards,
Noel Maclaren MD

Calcium Malabsorption

QUESTION

Dr. Maclernan, I am writing to you regarding my daughter, who you have met in the University of Florida in Gainsville in the 1990s. She is 18 years old and is presently having problems with hypocalcemia. She is asymptomatic of malabsorption and is not responding to oral calcium administration. She was just discharges from the hospital where she was getting IV Calcium gluconate 2gm Q6H. Her calciums would rise to about 9.0 with an ionized calcium of 4.4. As soon as IV was discontinued, she drops to the mid 7s and this is on an unheard dose of 28gms of elemental calcium po. Do you have any suggestions on how to possibly treat this?

ANSWER

Can you remind me about her case? Has her magnesium, 25 hydroxyvitamin D, 1,25 dihydroxyvitamin D and intact parathyroid hormone been checked? If so what are these values? Once I have this information I would be pleased to offer my suggestions.
Noel K Maclaren MD

Joint Pain

QUESTION

Hi all,

I am emailing with a question. My daughter Makenzie is 15 ½ with APS. She has autoimmune hepatitis, hypoparathyroidism, and Addison’s. My question is this. Have any of you dealt with joint pain? This past month she hurts- her wrists, knees, angles as she puts it – her bones. At this point my only lead is possibly it is from being on the steroids. We have been battling liver functions without a break for about 4 years and she hasn’t gotten off steroids for about 2 of those years. Any other suggestions out there? Just wondering if anyone else has experienced this.

Thanks for your help

ANSWER

Dear Paula,

This could be due to metaphyseal dysplasia. To diagnose this, you would need an X-ray of the affected joints. Usually this problem retreats with puberty.

Noel Maclaren MD

Oral thrush

QUESTION

I was writing regarding Joseph’s problems with oral thrush. Perhaps someone in the group has some advice based on their experiences. I just don’t know where to turn for help with this. I was hoping that I could hear what others did over email or even through a phone conversation. It is really troubling me.

Joseph started with thrush when he was 9 months old and now he is almost 3 and we are still treating it every month or at least every two months. I am feeling frustrated becasue I don’t seem to have a handle on how to best manage it. When it started we tried Nystatin and it didn’t resolve so we used Diflucan and it resolved immediately within 24 hours after just one dose. Then he continued to get it again every month. We have tried to manage it with alll sorts of probiotics and reducing sugar intake etc. but we always had to treat with Diflucan anyway. A couple of doctors said treat it when you see it yet now I wonder if that approach is best. Would it be better to keep him on a maintance dose. We continue to treat it every month and it has been 2 years. He has thrush again right now and it has not responded to Dilfucan as quickly as he once had. I have given 3 days of Difluc! an and still the thrush has no resolved. He actually had a bloody bottom lip from the thrush which has gotten better but his tongue still appears to be covered with yeast. It looks like a thin grey or white transparent irregular coating on his tonque. I sometimes second guess myself it is thrush so I try to get in to see a local doctor when he has it and I never can get an apt right away with a specialist. It is frustrating but I am so worried that resistance to Diflucan may be occuring and then what do we do? Joseph is only just about 3 years old and he has a lifetime ahead of him to deal with this candida problem. Any advice?? Should I continue the Diflucan and hope it resolves?? Have others had this problem and what has worked to resolve it. What do you do to manage it over a course of a lifetime?

Thank you for your help. Any emails would be great….and if there is someone I can call about it too, that would be wonderful.

ANSWER

Whereas the conazole drugs have transformed the care of thrush in APS-1 (Diflucan in particular), oral thrush often also needs to be treated with oral mycostatin or Genitian violet. The latter gives a purple tongue which at least the boys like to display.

Kind regards,
Noel Maclaren MD

Can APS type 1 cause Juvenile Diabetes?

QUESTION

I am a type 1 diabetic and get sick rather easy. Although I am recently in good health I was wondering if APS type 1 could cause Juvenile Diabetes? What are the link between these two immune disorders?

ANSWER

Yes T1DM can occur with APS-1 but this is an uncommon situation in the US. However other autoimmune disorders are somewhat increased in T1DM patients. I routinely screen for thyroid autoimmunity but I also screen for celiac diabetes in a patient has tummy problems. You might check out APS-2 to learn more about typical associations with T1DM. Please ask again if you have questions.

Kind regards,
Noel Maclaren MD