Endocrine Abstracts

Background: Alopecia areata is a common non-endocrine manifestation in autoimmune polyendocrine syndromes (APS). Alopecia universalis is its most severe form with total loss of scalp and body hair. Several attempts at classifications for multiple combinations of autoimmune disorders in APS were proposed. Type 1 diabetes is associated with epilepsy due to glycemic extremes and microvascular damage, but a shared etiology mediated by anti-glutamic acid decarboxylase antibodies (anti-GAD) was also recognized.

Case presentation: A 38-year-old patient was admitted to our clinic with severe diabetic ketoacidosis. A few days before he had generalized seizure attack. Besides being shaved and mostly white beard, he had no scalp, no eyebrows, eyelashes, and any other body hair. He was diagnosed with alopecia universalis at the age of 3, epilepsy at the age of 9, and type 1 diabetes at the age of 18 years. Laboratory studies showed undetectable C-peptide, very high HbA1c, elevated anti-GAD, normal thyroid peroxidase antibodies, thyroid hormones, calcium, and basal cortisol. Low compliance with insulin, diet and anti-seizure therapy was presumed. The mental impairment after recurrent seizures together with probable permanent psychological changes made the control of his diabetes extremely difficult.

Conclusion: The typical successive occurrence from the very early age suggests a probable common autoimmune etiology of his disorders. Thyroid and adrenal autoimmunity are still absent which is not typical for known APS. Immunotherapy in such longstanding diseases would probably lack effectiveness, but early recognition and intervention - potentially even preventive - might provide an opportunity for avoiding the development of such a severe clinical presentation.