Definition:
Gaucher disease is a commonly found lysosomal storage disorder, resulting from the deficiency of the glucocerebrosidase enzyme. The absence of this enzyme allows the collection of fatty material in organs like the brain, bone marrow, kidneys, spleen, lungs, and liver.
The disease was originally described by French physician Philippe Gaucher in 1882.
Type I, occurring in early life, occurs in 1 in 50, 000 live births and is most common among the Ashkenazi Jews. Type II, occurs in 1 in 100,000 live births, usually begins to manifest after 6 months of birth. Type III can begin at any time in life, and manifests in 1 in 100,000 live births.
Diagnosis:
In populations where Gaucher disease (like among Ashkenazi Jews, Norrbottnian Swedes, and some African tribes) is common, a person to be diagnosed may already have relatives previously diagnosed with the disorder. For those whose Gaucher disease is a sporadic occurrence (meaning it was not an inherited disease), the diagnosis may be delayed due to the uniqueness of the symptoms.
Treatment:
The existing trearment for Gaucher disease is an intravenous medication called Cerezyme. This medication costs $550,000 annually per patient, with medication having to continue for the entirety of the patient's lifetime. A new medicine known as Miglustat has approval underway.
Symptoms and Signs:
People who suffer from Gaucher disease have yellow-brown skin pigmentation. There is an enlargement of the spleen, as well as an absence of cardiac, pulmonary, and renal signs. Hypersplenism, where red and white blood cells are destroyed, is also common. It is also common for 75% of people who suffer from Gaucher disease to also have osteoporosis. An uncommon symptom is cirrhosis of the liver.
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