Onkológia 2/2023

Gaucher disease: hematologists‘ awareness can lead to diagnosis of this rare disease

Gaucher disease belongs to a heterogeneous group of genetically determined disorders at the lysosomal level. On the basis of the disorder, insufficient activity of the enzyme β-glucosidase, the metabolite glycosylceramide gradually accumulates in the tissues of the vital organs. The most common lysosomal diseases include, in addition to Gaucher disease, Fabry disease, Niemann-Pick disease, Tay-Sachs disease. This paper focuses on the issue of Gaucher‘s disease, as its clinical picture is a combination of hematological symptoms due to which the patient seeks out a hematologist‘s outpatient clinic. These clinical manifestations include progressive peripheral cytopenia (thrombocytopenia, anemia, leukopenia), hepatosplenomegaly, some patients are affected by severe skeletal and pulmonary damage, and patients with types 2 and 3 also have neurological manifestations. Gaucher disease is a progressive disease affecting multiple systems and can be diagnosed in childhood and adulthood. It is a treatable metabolic disorder, although the diagnosis is a prerequisite for treatment. Mainly due to the non-specific symptoms and a lack of awareness, patients with GD are diagnosed late or their disease goes undetected. This paper discusses the issue of Gaucher disease and highlights the hematologic symptoms, with the aim of contributing to the diagnosis of this rare disease in the hematologist‘s outpatient clinic.

Keywords: Gaucher disease, β-glukosidase, glykosylceramid, cytopenia, thrombocytopenia, splenomegaly, dried blood spot