Type 1 | |
Phenotype | Accounts for 95% of GD cases. Diverse phenotypes among patients with identical GBA mutations manifests as variations in the overall severity of the disease, as well as in the pattern of organ involvement Childhood or adult onset varying from asymptomatic to life threatening symptoms. Symptoms and signs:
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Visceral symptoms | Hepatomegaly (>80% of patients), splenomegaly (>90% of patients), interstitial lung disease and pulmonary hypertension |
Hematopoietic symptoms | Anaemia and thrombocytopenia -
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Orthopaedic symptoms | Bony pain crisis, osteopenia, aseptic necrosis of femoral head, bony lytic lesions, bony infarctions and pathological fractures |
Neurologic symptoms | No CNS involvement and no cognitive regression except for an increased risk in Parkinson's disease |
Although the disease is progressive in the adult, it is compatible with long life.
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