Hematological signs and symptoms of Gaucher disease
Clinical features at the diagnosis of Gaucher disease frequently include hematological abnormalities, indeed in one study 75% of Gaucher disease patients were diagnosed by a hematologist.4 Hematological features of Gaucher disease include leucopenia and coagulation disorders, but most commonly observed are anemia and thrombocytopenia.5
Anemia may occur as a result of an increase in the hemolytic function of the spleen, hemodilution, iron or vitamin B12 deficiency and may account for fatigue, dyspnea on exertion, and the need for blood transfusions.6 In advanced disease, anemia may occur due to decreased erythropoiesis as a result of bone marrow failure from infiltration by Gaucher cells or from medullary (bone) infarction (i.e. osteonecrosis; where the blood supply to a section of bone is interrupted, leading to ischemia and necrosis).7,8
The mechanisms underlying the hematological manifestations observed in Gaucher disease are usually attributed to hypersplenism and hematopoietic impairment.