open access

Vol 48, No 3 (2017)
Prace poglądowe / Reviews
Published online: 2017-07-01
Submitted: 2017-07-10
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How to recognize and treat Gaucher disease: an outline of pathophysiology, clinical symptoms, diagnostic methods and therapy

Egle Sumskiene12, Maciej Machaczka13
DOI: 10.1016/j.achaem.2017.07.003
·
Acta Haematol Pol 2017;48(3):165-173.
Affiliations
  1. Hematology Center Karolinska and Department of Medicine at Huddinge, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden
  2. Department of Surgery, Antakalnis Outpatient Clinic, Vilnius, Lithuania
  3. Wydział Medyczny, Uniwersytet Rzeszowski, Rzeszów, Poland

open access

Vol 48, No 3 (2017)
Prace poglądowe / Reviews
Published online: 2017-07-01
Submitted: 2017-07-10

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.

Get Citation

Keywords

Glucocerebrosidase; Gaucher disease; Bone marrow examination; Gaucher cell; Enzyme replacement therapy

About this article
Title

How to recognize and treat Gaucher disease: an outline of pathophysiology, clinical symptoms, diagnostic methods and therapy

Journal

Acta Haematologica Polonica

Issue

Vol 48, No 3 (2017)

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

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