Gaucher disease is a genetic disorder in which a patient’s body fails to produce glucocerebrosidase, an enzyme required to break down glucocerebroside, a fatty substance. Gaucher disease is a rare genetic disease caused by a genetic mutation. There are five main subtypes of Gaucher disease – Type 1, Type 2, Type 3, the perinatal-lethal type, and the cardiovascular type. Type 1 is the more common genetic disease while the other forms are rare. Even among the others, perinatal-lethal type is the rarest form of Gaucher disease.
Genetic tests can diagnose the disease and help detect the four common genetic mutations and other rare mutations. Other than genetic tests, blood tests or CT scans can help identify the disease progression. If both parents carry the genetic mutations, the child is likely to develop it as well. Genetic counseling is recommended for persons with a family history of this disease.
Symptoms of Gaucher Disease
Doctors can detect the disease from its characteristic signs and symptoms. Swelling of the stomach, which may be due to enlarged spleen, is considered among the first symptoms. Insufficiency of blood cells causes enlargement of spleen and leads to symptoms of anemia. Insufficient red blood cells cause lack of oxygen and energy, leading to symptoms of fatigue. Patients of Gaucher disease may exhibit diverse symptoms based on disease types. Symptoms of different types of Gaucher disease are markedly separate. Some common symptoms are:
- Bone diseases
- Enlargement of the spleen and liver
- Easy bruising
- Heart valve problems
- Skin changes
- Lung disease
- Cognitive impairment
Treatments for Gaucher Disease
Gaucher disease treatments usually include enzyme replacement therapy. In these treatments, an intravenous infusion containing a modified form of the enzyme glucocerebrosidase is given. Most treatments are prescribed for weekly administering. The dosage of medication used in the therapeutic treatments varying based on age and characteristic patient requirements.
Pain medications are effective treatments to relieve pain. Medication treatments help patients of Gaucher disease deal with symptoms of bone pain.
Blood transfusions are additional treatments given to the patients of Gaucher disease in case they suffer from symptoms of excessive bleeding and tiredness. This is among effective treatments for anemia.
Splenectomy is among important treatments of Gaucher disease. It involves the removal of the spleen. Other treatments include bone marrow transplants and substrate reduction therapy. Treatments like bone marrow transplant may be required in some severe cases.
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