Jak rozpoznawać i leczyć chorobę Gauchera: zarys patofizjologii, objawów klinicznych, metod diagnostycznych i leczenia

TLDR: This review highlights pathophysiology, signs and symptoms, diagnostic and therapeutic principles of Gaucher disease, a rare autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase.

Abstract: Rare diseases are a diagnostic challenge for modern medicine. Gaucher disease is a rare autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. In the absence of known affected family member, frequent symptoms of Gaucher disease, such as thrombocytopenia or splenomegaly, often lead to hematological diagnostic workup. This review highlights pathophysiology, signs and symptoms, diagnostic and therapeutic principles of Gaucher disease. Difficulties in diagnosis of Gaucher disease depends mainly on its rarity, but there is also the lack of awareness and limited knowledge about this disease. Basic knowledge of Gaucher disease should be familiar to all physicians, including hematologists.