Endocrine Abstracts

Introduction: Autoimmune polyglandular syndrome (APS) is a group of polyendocrinopathies characterizedby multiple glands insufficiencies associated with other autoimmune diseases resulting from immune mediated destruction. We describe a patient with type 2 APS presenting first with diabetes type 1 followed later by adrenal insufficiency and Hashimoto disease.

Case report: A 23-year-old male, known with diabetes type 1, presented with a very low blood pressure. He complained of nausea, vomiting, general weakness, easy fatigability, postural dizziness and gradual darkening of the skin since 3 months.

Physical examination revealed both general hyperpigmentation and vitiligo.

Laboratory studies showed significant hyponatremia, hyperkaliemia. Morning cortisol was very low 28 nmol/l (22.1–353) and elevated ACTH 1557 ng/ml (7.2–63.3), with a high level of adrenal autoantibodies, which confirm the diagnosis of autoimmune primary adrenal insufficiency. He was started on replacement therapy with physiological doses of prednisolone and fludrocortisone resulting in marked improvement in his symptoms. Further evaluation revealed also an auto-immune hypothyroidism which required Levothyroxine supplementation.

The analysis for mutations in the AIRE gene was negative, without excluding genetics polymorphisms. Screening for other auto-immune diseases associated with APS 2 was negative.

Discussion: Both APS 1 and 2 are associated with type 1 diabetes. The type 2 syndrome is much more prevalent than the type I syndrome and primary adrenal insufficiency is its principal manifestation. Adrenal insufficiency is the initial manifestation in about 50 percent of patients, occurs simultaneously with autoimmune thyroid disease or diabetes mellitus in about 20 percent, and follows them in about 30 percent.

Our patient had type 1 diabetes and presented with adrenal insufficiency with an adrenal crisis. He was diagnosed as a case of APS type 2 consistent ofAddison’s disease, type 1 diabetes, autoimmune thyroid disease and vitiligo. We could not detect mutations in the AIRE gene. However it is possible that certain mutations are not detectable with the used technique.

Conclusion: In type 1 diabetes patients and their relatives a search for APS is crucial given predilection to other concomitant autoimmune diseases. Furthermore regular surveillance in these patients is crucial to screen for these other autoimmune disorders even decades after the initial diagnosis.