open access
How to recognize and treat Gaucher disease: an outline of pathophysiology, clinical symptoms, diagnostic methods and therapy
Affiliations- Hematology Center Karolinska and Department of Medicine at Huddinge, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden
- Department of Surgery, Antakalnis Outpatient Clinic, Vilnius, Lithuania
- Wydział Medyczny, Uniwersytet Rzeszowski, Rzeszów, Poland
open access
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.
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.
Keywords
Glucocerebrosidase; Gaucher disease; Bone marrow examination; Gaucher cell; Enzyme replacement therapy
About this articleTitle
How to recognize and treat Gaucher disease: an outline of pathophysiology, clinical symptoms, diagnostic methods and therapy
Journal
Issue
Pages
165-173
Published online
2017-07-01
DOI
10.1016/j.achaem.2017.07.003
Bibliographic record
Acta Haematol Pol 2017;48(3):165-173.
Keywords
Glucocerebrosidase
Gaucher disease
Bone marrow examination
Gaucher cell
Enzyme replacement therapy
Authors
Egle Sumskiene
Maciej Machaczka