Gaucherdisease.org

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Overview & More informations

Gaucher Disease is committed to providing accurate and up-to-date information about Gaucher disease to patients, their families, and healthcare providers. The website provides information on the symptoms, diagnosis, treatment, and prognosis of Gaucher disease, as well as resources for patients and their families. Gaucher Disease is a rare genetic disorder that affects the body's ability to break down a fatty substance called glucosylceramide. This can lead to a build-up of glucosylceramide in the body, which can cause a variety of symptoms, including:

• Enlarged spleen and liver


• Anemia


• Fatigue


• Bone pain


• Easy bruising or bleeding

Gaucher disease is treated with enzyme replacement therapy (ERT), which replaces the missing enzyme that breaks down glucosylceramide. ERT can help to improve the symptoms of Gaucher disease and prevent complications. The website provides information on the different types of ERT available, as well as the benefits and risks of treatment. Gaucher Disease also provides resources for patients and their families, including a support forum, a newsletter, and a directory of Gaucher disease clinics. The website is a valuable resource for patients, families, and healthcare providers who are looking for information about Gaucher disease.

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