How rare is APS Type 1 in the United States?  Intriguing new research by Dr. Lionakis’ team, which exactingly analyzed existing public health records, suggests the number of individuals with APS Type 1 living in the U.S. is far greater than previously believed.

Title: Prevalence of APECED‑Like Clinical Disease in an Electronic Health Record Database, USA  LETTER TO EDITOR


Emily E. Ricotta, Elise M. N. Ferré, Monica M. Schmitt, Tom DiMaggio, & Michail S. Lionakis


Received: 4 February 2022 / Accepted: 11 March 2022 


Journal of Clinical Immunology (2022) 42:904–906


Dr. Lionakis’ team  examined  public health data bases and looked for patients who had either all three or two out of three of the classic triad of APS Type 1 manifestations (chronic mucocutaneous candidiasis (CMC), primary adrenal insufficiency (AI), and primary hypoparathyroidism (HPT).  They found that APS Type 1 appears to be found at incidence of 0.9 per 100,000 patients in the United States. Based on a U.S. population of 332,400,000 there may be as many as 3,000 APS Type 1 patients in the United States, which is far higher than was previously thought to exist.

“The prevalence of APECED is higher in certain populations such as Persian Jews (1:9000), Sardinians (1:14,400), and Finns (1:25,000). However, the prevalence of APECED remains unknown in the USA.  To attempt to address this question, we obtained data from the Cerner HealthFacts dataset, an electronic health record database containing >400 million inpatient and outpatient medical encounters from across the USA.”

“Herein, we exploited an electronic health record database containing >400 million medical encounters from 2009 to 2017 to estimate the prevalence of APECED-like clinical disease in the USA. We applied a series of stringent criteria to increase the specifity of our analyses and found that the prevalence of APECED-like clinical disease appears to be at least 0.9 per 100,000 patients.”

“… our study provides a first analysis of the prevalence of APECED clinical disease in the USA and indicates that several hundred-to-thousand patients with this autoimmune syndrome likely exist in the USA. Increased awareness by clinicians from multiple specialties should enhance recognition and diagnosis, which should improve the prognosis of affected patients.”

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