Gaucher disease
Shown below are possible signs and symptoms of Gaucher disease. Absence of a particular symptom does not rule out this disease.
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Musculoskeletal
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- Bone pain (chronic or acute)
- Bone crisis (acute, severe pain)
- Osteopenia, Osteoporosis, Osteonecrosis (avascular necrosis) leading to fractures and joint replacement
- Erlenmeyer flask deformity
- Bone marrow infiltration
- Skeletal growth retardation
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bone infiltration and osteonecrosis 1
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severe bone involvement without enlarged abdomen 2
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Other Symptoms
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Visceral/Gastrointestinal:
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Haematological:
- Anemia, fatigue
- Easy bruising, bleeding
- Leukopenia: increased risk of infection
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Other:
- Dyspnoea (extertional), tachypnoea, recurrent respiratory infections
- Skin discolouration (yellow/brownish)
- Difficulty gaining weight, pubertal delay
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Go to DIAGNOSIS to learn what to do if you suspect a patient of having a lysosomal storage disorder.
References:
1. Courtesy of Dr. L.W. Poll
2. Data on file, Genzyme Corporation
3. Courtesy of Dr. E. Mengel
4. Data on file, Genzyme Corporation
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