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[Gaucher disease: A review].

Y Nguyen1, J Stirnemann2, N Belmatoug1

  • 1Service de médecine interne, hôpitaux universitaires Paris Nord-Val-de-Seine, hôpital Beaujon, Assistance publique-Hôpitaux de Paris (AP-HP), 100, boulevard du Général-Leclerc, 92110 Clichy, France; Centre de référence des maladies lysosomales, hôpitaux universitaires Paris Nord-Val-de-Seine, hôpital Beaujon, Assistance publique-Hôpitaux de Paris (AP-HP), 100, boulevard du Général-Leclerc, 92110 Clichy, France.

La Revue De Medecine Interne
|January 15, 2019
PubMed
Summary
This summary is machine-generated.

Gaucher disease is a rare genetic disorder affecting macrophages due to glucocerebrosidase deficiency. Early diagnosis and treatment are crucial for managing symptoms and improving patient outcomes.

Keywords:
Gaucher diseaseLysosomal storage disorderMaladie de GaucherMaladie de surcharge lysosomaleSplenomegalySplénomégalie

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Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Gaucher disease is an autosomal recessive lysosomal storage disorder.
  • It results from glucocerebrosidase deficiency, causing glucosylceramide accumulation in macrophages.
  • Incidence ranges from 0.4 to 5.8/100,000, with Type 1 being most common.

Purpose of the Study:

  • To summarize the key aspects of Gaucher disease, including its types, symptoms, diagnosis, and treatment.
  • To highlight the challenges in diagnosis due to rarity and heterogeneity.
  • To emphasize the need for increased physician awareness to reduce complications.

Main Methods:

  • Review of existing literature on Gaucher disease.
  • Analysis of diagnostic criteria, including enzyme activity assays and genetic testing (GBA1 gene variants).
  • Summary of clinical manifestations across different Gaucher disease types.

Main Results:

  • Type 1 presents with anemia, thrombocytopenia, splenomegaly, hepatomegaly, and bone disease.
  • Types 2 and 3 involve severe neurological complications.
  • Type 1 is linked to increased risk of Parkinson disease, cancers, and multiple myeloma.
  • Diagnosis confirmed by low glucocerebrosidase activity and GBA1 pathogenic variants.

Conclusions:

  • Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) are available for symptomatic Type 1.
  • ERT is indicated for Type 3.
  • Timely diagnosis and treatment improve quality of life and prognosis.
  • Increased physician awareness is vital to prevent irreversible complications.