clinical features

Last edited 02/2019

 

  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:

  • first appear in adult life and are related to splenomegaly or bone involvement
  • on examination there may be pingueculae (wedge-shaped yellow/orange subconjunctival deposits)
  • yellow-brown pigmentation of the skin, especially that exposed to sunlight
Visceral symptoms Hepatomegaly (>80% of patients), splenomegaly (>90% of patients), interstitial lung disease and pulmonary hypertension
Hematopoietic symptoms Anaemia and thrombocytopenia -
  • most commonly - there is pancytopenia or thrombocytopenia secondary to hypersplenism
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.

Related pages:

hypersplenism

pinguecula

pathological fracture

avascular necrosis