A Rare Case of Hypoparathyroidism and Myxedema Coma in a Patient With Diamond-Blackfan Anemia

Abstract

Diamond-Blackfan anemia (DBA) is a rare genetic condition that presents due to bone marrow failure caused by a dysfunction in ribosomal biogenesis and function. The patients would often require chronic transfusions as treatment, which puts them at high risk for the development of secondary hemochromatosis. This secondary hemochromatosis results in endocrinopathies due to iron deposition into the endocrine glands. We present an interesting case report of a female patient with multiple endocrinopathies due to secondary hemochromatosis resulting from chronic transfusion therapy. Her endocrinopathies included hypothyroidism complicated by myxedema coma and, interestingly, hypoparathyroidism, which has seldom been reported in DBA patients. Early diagnosis and precise treatment of life-threatening conditions like myxedema coma in DBA patients can avoid morbidity and mortality.

Endocrine disorders in patients with transfusion-dependent hereditary anemias

“…У 50% выявлялись дефицит или недостаточность витамина D. Все осложнения, кроме надпочечниковой недостаточности, чаще встречались у пациентов, постоянно нуждавшихся в трансфузиях донорской эритроцитарной массы [ 2 ]. Также на фоне перегрузки железом описано развитие гипопаратиреоза [ 7 ].…”