Résumé
Gaucher disease (GD) is a rare autosomal recessive lysosomal disorder caused by glucocerebrosidase deficiency, with a prevalence in France of around 1/130,000 people. The clinical picture of GD is very heterogeneous, ranging from lifelong asymptomatic forms to severe forms with onset during childhood, such as GD type 2 (< 1% of cases). GD type 1, the most common form (95% of cases), manifests with varying degrees of organomegaly, cytopenia and bone manifestations. Progressive encephalopathy of varying severity is also observed in GD type 3. Symptoms may result in acute and/or chronic pain and asthenia, and lead to disability. The aim of the French National Diagnosis and Care Protocol (Protocole National de Diagnostic et de Soins; PNDS) is to provide health care professionals with guidance for the optimal management and care of patients with GD. GD diagnosis is usually based on laboratory analyses revealing low or absent glucocerebrosidase activity, and can be confirmed by identification of glucocerebrosidase (GBA1) gene pathogenic variants. Additional assessments should include biological analyses (hemogram test, serum protein electrophoresis, and measurement of GD biomarkers), imaging examinations (X-rays, abdominal and bone magnetic resonance imaging, bone densitometry, echocardiography), and electrocardiogram.Patient management in France is multidisciplinary and should be coordinated by a GD specialist, in conjunction with the Committee for the Evaluation and Treatment of Gaucher Disease, the Reference Center for Lysosomal Diseases or a reference/competence center for inherited metabolic diseases. The indication for treatment is not systematic and is based on the presence of clinical, biological, and imaging criteria. Current treatments such as intravenous enzyme replacement therapy or oral substrate reduction therapy, generally lead to significant improvements in disease characteristics within one to five years and early initiation can prevent complications. Follow-up should include a clinical examination, biological analyses to monitor disease biomarkers twice a year then yearly for stable patients, and imaging evaluations initially every year and then every 3 to 4 years for patients with stable disease in whom therapeutic objectives have been achieved. Intercurrent pathologies can be managed by the attending physician in collaboration with a GD specialist.