Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Gaucher's disease history and symptoms
Introduction
Overview
Overview
History
History
Symptoms
Symptoms
- Painless hepatomegaly and splenomegaly; the spleen can be 1500-3000 ml, as opposed to the normal size of 50-200 ml.
- Hypersplenism: increased destruction of red and white blood cells and platelets, leading to anemia, neutropenia and thrombocytopenia (with an increased risk of infection and bleeding)
- Cirrhosis of the liver is rare
- Neurological symptoms occur only in some types of Gaucher’s (see below):
- Type II: serious convulsions, hypertonia, mental retardation, apnea.
- Type III: myoclonus, convulsions, dementia, ocular muscle apraxia.
- Osteoporosis: 75% develop visible bony abnormalities due to the accumulated glucosylceramide.
- Bone pain and fractures
- Cognitive impairment
- Easy bruising
- Fatigue
- Heart valve problems
- Lung disease
- Severe swelling (edema) at birth
- Skin changes
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Cafer Zorkun, M.D., Ph.D. [2]