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Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism
Author(s) -
Sahoo Saroj K.,
Zaidi Ghazala,
Srivastava Rajni,
Sarangi Aditya N.,
Bharti Niharika,
Eriksson Daniel,
Bensing Sophie,
Kämpe Olle,
Aggarwal Amita,
Aggarwal Rakesh,
Bhatia Eesh
Publication year - 2016
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.13111
Subject(s) - autoimmune regulator , hypoparathyroidism , medicine , chronic mucocutaneous candidiasis , antibody , adrenal insufficiency , immunology , gastroenterology , autoimmune disease , endocrinology , disease
Summary Objective The prevalence of autoimmune polyendocrine syndrome type 1 ( APS 1) among isolated hypoparathyroidism ( HP ) or primary adrenal insufficiency ( PAI ) is not well established. We studied the frequency of APS 1 in patients with HP or PAI by measuring interferon‐α ( IFN ‐α) antibody levels, a highly sensitive and specific marker for APS 1. Design, patients and measurements In a single‐centre cross‐sectional study, 37 Indian patients with isolated HP and 40 patients with PAI were tested for IFN ‐α antibody using an indirect ELISA . In patients with elevated IFN ‐α antibody, the autoimmune regulator ( AIRE ) gene was bidirectionally sequenced. Results Three (8·1%) patients with isolated HP had elevated IFN ‐α antibody levels (range: 367–17382 units; positive titre >56 units). Homozygous or compound heterozygous AIRE mutations were detected in all three patients, including a novel mutation (p.T68P). All three APS 1 patients had atypical features. The first patient, diagnosed at 7 years of age, died suddenly 5 months later. The second patient had late‐onset HP (at the age of 34 years) and a solitary episode of transient mucocutaneous candidiasis 5 years later. The final patient developed HP at the age of 14 years and premature ovarian insufficiency 14 years later. Interleukin‐22 antibodies, as well as most other organ‐specific antibodies, were absent in the 3 APS 1 patients. All patients with PAI were negative for IFN ‐α antibody. Conclusion Eight percentage of patients with isolated HP had elevated IFN ‐α antibody levels and AIRE mutation‐positive APS 1. All APS 1 patients had atypical clinical features. Testing for IFN ‐α antibody should be considered in patients with idiopathic HP .