Bone marrow necrosis and fat embolism syndrome: a near fatal complication in previously undiagnosed sickle beta + thalassaemia

Abstract

Prevalence of haemoglobin sickle-β+ thalassaemia (Hb S/β+thal) is variable with geography ranging from 0.2% to 10% among sickle cell patients. Clinical presentation of Hb S/β+thal patients depends on HbA level, with milder disease often going undiagnosed. However, rarely these patients can present with a fulminant vaso-occlusive crisis (VOC). Given VOC can present with non-specific symptoms, the diagnosis and treatment is often delayed. Here, we present a patient who initially developed altered mental status, pancytopenia and multiorgan failure due a critical VOC resulting in bone marrow necrosis and fat embolism. Subsequent workup confirmed that our patient had Sickle-β+ thalassaemia, which had gone undiagnosed, despite subclinical evidence of haemolysis on routine lab work for years. Following diagnosis and initiation of RBC exchange, he improved significantly and was discharged home. High index of suspicion and bone marrow biopsy is vital for early diagnosis and management of this rare condition.