Introduction: Familial Mediterranean Fever (FMF) is an autosomal recessive hereditary disease characterized by fever and inflammation of serous membranes. The most important complication of FMF is amyloidosis which has significant role in the prognosis. It is unclear how endocrine system hormones are affected in FMF. We present adrenal insufficiency in a an FMF patient without amyloidosis.
Case: A 39 years old male patient who had been diagnosed with FMF at the age of 14 years admitted to the emergency department with the weeklong complaints of cough, fatigue, fainting and abdominal pain. He had started colchicine treatment at the diagnosis but was not using it regularly. He had a personal history of hospitalization in the intensive care unit with the diagnosis of pericardial effusion and FMF attack 6 years ago. His blood pressure was 80/50 mm/hg, body temperature was 36.8°C. In laboratory examination, his blood glucose was 40 mg/dl, sodium was 133 mmol/l, potassium was 6.1 mmol/l, calcium was 8.2 mg/dl, phosphorus was 3.0 mg/dl and albümin was 4.0 g/dl. Cortisol and adrenocorticotrophic hormone were 0.326 ug/dl and 324.4 pg/ml, respectively. He was hospitalized with the diagnosis of adrenal insufficiency and glucocorticoid and mineralocorticoid therapies were started. 24 hour urine protein excretion was 265.1 mg/day which was suggestive for lack of renal amyloidosis. The size of the kidneys was normal in the abdominal ultrasonography. Abdominal magnetic resonance imaging showed aplastic/hypoplastic right adrenal gland that could not be distinguished and a small left adrenal gland. His complaints regressed with hydrocortisone, fludrocortisone and colchicine treatments.
Conclusion: The most common cause of adrenal insufficiency in developing countries is tuberculosis while its most common cause in developed countries is autoimmune adrenalitis. Lack of proteinuria and presence of hypoplastic adrenal glands were suggestive for the absence of amyloidosis in our patient. Coexistent FMF and Addisons disease in a patient might be associated with the immunopathogenic mechanisms or just a coincidence rather than amyloid involvement of adrenal glands.
18 - 21 May 2019
European Society of Endocrinology