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A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1
Øyvind Bruserud1, Bergithe E Oftedal1, Nils Landegren1
1Department of Clinical Science (Ø.B., B.E.O., E.B., B.G.N., L.B., P.M.K., K.Lo., A.B.W., E.S.H.), University of Bergen, 5021 Bergen, Norway; Department of Medicine (Solna) (N.L., O.K.), Karolinska Institutet, 171 76 Stockholm, Sweden; Science for Life Laboratory (N.L.), Department of Medical Sciences, University of Uppsala, 751 05 Uppsala, Sweden; Department of Medicine (M.M.E., K.Lo., E.S.H.), Haukeland University Hospital, 5021 Bergen, Norway; Department of Medicine (K.Li.,), Akershus University Hospital, 1474 Nordbyhagen, Norway; Department of Endocrinology (K.Li., A.P.J.), Oslo University Hospital, 0372 Oslo, Norway; Department of Pediatrics (A.G.M.), Oslo University Hospital, 0424 Oslo, Norway; Division of Internal Medicine (J.S.), University Hospital of North Norway, 9019 Tromsø, Norway; Institute of Clinical Medicine (J.S.), University of Tromsø, The Artic University of Norway, 9019 Tromsø, Norway; Department of Endocrinology (K.J.F.), St. Olavs Hospital, 7006 Trondheim, Norway; Department of Medicine (Å.B.), Stavanger University Hospital, 4011 Stavanger, Norway; Department of Medicine (B.G.N.), Haugesund Hospital, 5504 Haugesund, Norway; Department of Medicine (B.M.), Østfold Hospital, 1603 Fredrikstad, Norway; Department of Immunology (M.K.V.), Oslo University Hospital, 0372 Oslo, Norway; University of Oslo (M.K.V.), 0372 Oslo, Norway; Center for Medical Genetics and Molecular Medicine (P.M.K.), Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Dentistry (M.C.M.), Faculty of Medicine and Dentistry, University of Bergen, 5021 Bergen, Norway; and Oral Health Centre of Expertise in Western Norway (M.C.M.), 5021 Bergen, Norway.
Insights
Autoimmune Polyendocrine Syndrome Type 1 (APS1) often presents in childhood with hypoparathyroidism, adrenal insufficiency, or candidiasis. This study highlights varied phenotypes, high mortality, and the need for early diagnosis and specialized care for APS1 patients.
Area of Science:
- Endocrinology
- Immunology
- Genetics
Background:
- Autoimmune Polyendocrine Syndrome Type 1 (APS1) is a rare childhood-onset genetic disorder.
- Diagnosis relies on specific clinical criteria, but longitudinal data is limited.
Purpose of the Study:
- To characterize APS1 phenotypes over extended follow-up.
- To correlate clinical features with autoantibody profiles and AIRE mutations.
Main Methods:
- Retrospective analysis of 52 Norwegian APS1 patients (1996-2016).
- Clinical data collection, autoantibody profiling, and AIRE gene sequencing.
Main Results:
- Most patients developed multiple manifestations, some with milder adult-onset phenotypes.
- High mortality observed (median age 34 years).
- Interferon-omega autoantibodies were common; specific AIRE mutations correlated with phenotype severity and AIRE mutations were found in 15 patients.
Conclusions:
- Autoimmune manifestations like hypoparathyroidism, candidiasis, and enamel hypoplasia warrant APS1 investigation, even in adults.
- Early diagnosis via autoantibody and AIRE testing is crucial.
- Management requires specialized centers due to complex treatment and high mortality.
Context:
Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insufficiency, and chronic mucocutaneous candidiasis (CMC). Information on longitudinal follow-up of APS1 is sparse.
Objective:
To describe the phenotypes of APS1 and correlate the clinical features with autoantibody profiles and autoimmune regulator (AIRE) mutations during extended follow-up (1996-2016).
Patients:
All known Norwegian patients with APS1.
Results:
Fifty-two patients from 34 families were identified. The majority presented with one of the major disease components during childhood. Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. With age, most patients presented three to five disease manifestations, although some had milder phenotypes diagnosed in adulthood. Fifteen of the patients died during follow-up (median age at death, 34 years) or were deceased siblings with a high probability of undisclosed APS1. All except three had interferon-ω) autoantibodies, and all had organ-specific autoantibodies. The most common AIRE mutation was c.967_979del13, found in homozygosity in 15 patients. A mild phenotype was associated with the splice mutation c.879+1G>A. Primary adrenocortical insufficiency and type 1 diabetes were associated with protective human leucocyte antigen genotypes.
Conclusions:
Multiple presumable autoimmune manifestations, in particular hypoparathyroidism, CMC, and enamel hypoplasia, should prompt further diagnostic workup using autoantibody analyses (eg, interferon-ω) and AIRE sequencing to reveal APS1, even in adults. Treatment is complicated, and mortality is high. Structured follow-up should be performed in a specialized center.
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