Type 1 disease

Splenomegaly is one of the most common findings in type 1 disease and may often be the initial finding recognised when a child is young. Cox TM, Schofield JP. Gaucher’s disease: clinical features and natural history. Bailleres Clin Haematol 1997;10(4):657-689.  However, these patient may also develop skeletal disease possibly resulting in generalized osteoporosis complicated by frequent pathological fractures. Skeletal abnormalities are also very common with nearly all adult patients developing bone complications. Cox TM, Schofield JP. Gaucher’s disease: clinical features and natural history. Bailleres Clin Haematol 1997;10(4):657-689.   There is a broad spectrum of severity of a range of signs and symptoms including: Damiano AM, Pastores GM, Ware JE Jr. The health-related quality of life of adults with Gaucher disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res 1998;7(5):373-386.

Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160:2835.

  • Visceral
    • Splenomegaly
    • Hepatomegaly
  • Hematological
    • Easy bruising and bleeding associated with thrombocytopenia
    • Anemia
  • Skeletal
    • Bone pain/crises
    • Growth retardation (children & adolescent)
    • Avascular necrosis
    • Pathological fractures
    • Osteopenia
    • Bone marrow infiltration
  • Quality of life
    • Fatigue
    • Altered social and physical functions

Type 1 disease is characterised by an absence of primary central nervous system involvement.

 

Splenomegaly – one of the most common signs of Gaucher disease Cox TM, Schofield JP. Gaucher’s disease: clinical features and natural history. Bailleres Clin Haematol 1997;10(4):657-689.

Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160:2835.

Gaucher - disease symptoms