Endocrine Abstracts

Introduction: Autoimmune polyendocrinopathy syndrome (APS) type 4 is rare, characterized by an association between an autoimmune endocrine disease with another endocrine or non-endocrine autoimmune disease, and this association cannot be attributed to APS type 2 or 3. We report the observations of 3 cases with APS type 4.

Cases presentations: Case N 1:

Patient 16 years old, type 1 diabetic for 9 years under insulin therapy, with alopecia areata for 4 years under Methotrexate 25 mg/week and folic acid 5 mg/week

Clinical examination showed alopecia of the scalp, the eyelashes and the eyebrows. Screening for other polyendocrinopathies was normal.

Case N 2:

24-year-old female patient, type 1 diabetic for 16 years on insulin therapy, treated for celiac disease on a gluten free regime for 14 years.

Case N 3:

Patient aged 54, followed for primary biliary cholangitis (PBC) at the stage of cirrhosis, who reported signs of hypothyroidism, on clinical examination: bradycardia at 55 bpm, palpable thyroid. The workup revealed autoimmune Hashimoto’s thyroiditis.

Discussion: Autoimmune polyendocrinopathies (APS) represent a heterogeneous group of diseases characterized by two or more endocrine deficits related to an autoimmune mechanism, often associated with other non-endocrine autoimmune diseases. The classification by Neufeld and Blizzard identifies four types: APS type 1 is defined by the presence of at least two manifestations of a triad: adrenal insufficiency, hypoparathyroidism and mucocutaneous candidiasis. APS type 2 is the most common, and combines adrenal insufficiency with either type 1 diabetes or dysthyroidism, or both. APS type 3 is the combination of a dysimmune endocrinopathy (other than adrenal insufficiency) and dysthyroidism, and APS type 4 includes any other combination of autoimmune diseases. Our first two patients had T1DM associated with another non-endocrine autoimmune disease, and our third patient had Hashimoto’s thyroiditis associated with PBC, this combination leads us to a diagnosis of APS type 4.

Conclusion: In any patient with autoimmune disease, a regular follow-up is indicated to identify the emergence of new autoimmune diseases.