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Causes
Symptoms
Exams and Tests
Diagnosis
Treatment
Managing Gaucher’s Disease
Self-Care for Gaucher’s Disease Patients
Caring for those with Gaucher’s Disease
Causes of Gaucher’s Disease
Gaucher’s (pronounced: go-SHAY’S) disease is caused by a gene defect received from both parents and is the most common genetic disease affecting Jewish people of Eastern European ancestry. This mutation results in a deficiency of a specific enzyme in the body required to break down a fatty substance known as glucocerebroside which accumulates in the spleen, liver, lungs, bone marrow, and sometimes in the brain. The buildup of this fatty material within cells prevents the cells and organs from functioning properly.
Source: Adapted from the National Institutes of Health
Symptoms of Gaucher’s Disease
The signs and symptoms of Gaucher’s disease vary widely among affected individuals. The major features of this disorder include enlargement of the liver and spleen (also called “hepatosplenomegaly”), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), and bone disease. There are three types of Gaucher’s disease and they are classified by age of onset, brain involvement and symptoms. Type 1 Gaucher’s disease is the most common. Patients in this group usually bruise easily and experience fatigue due to anemia and low blood platelets. They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age.
Source: National Institutes of Health
Exams and Tests For Gaucher’s Disease
Evaluation for Gaucher’s disease involves assessing symptoms of anemia, easy bruising, and an enlarged liver and spleen with blood tests confirming decreased enzyme activity.
Source: National Institutes of Health
Gaucher’s Disease Diagnosis
Persons affected by Gaucher’s disease or carriers of the gene defect can be identified by a blood test. This testing process either screens for the presence of genetic markers for Gaucher’s disease or measures the level of glucocerebrosidase, the enzyme that breaks down glucocerebroside. If the level of this enzyme is low, it can identify persons affected by Gaucher’s disease.
Source: National Institutes of Health
Gaucher’s Disease Treatment
Highly effective enzyme replacement therapy is available for most patients with types 1 and 3 Gaucher’s disease. This therapy decreases liver and spleen size, reduces skeletal anomalies, and successfully reverses other symptoms of the disorder, including abnormal blood counts. Bone marrow transplantation (a procedure to replace damaged or destroyed blood-forming cells) can reverse the non-neurological effects of type 1 Gaucher’s disease, but it carries a high risk of death due to imperfect donor matches. This procedure has been replaced by enzyme replacement therapy. There is no effective treatment for severe brain damage that may occur in patients with types 2 and 3 Gaucher’s disease.
Source: National Institutes of Health
Managing Gaucher’s Disease
Some alternative or complementary approaches may help the patient cope or reduce some of the stress associated with living with a chronic illness. As with any therapy, patients should discuss the benefits and drawbacks with their doctors before beginning an alternative or new type of therapy. If the doctor feels the approach has value and will not be harmful, it can be incorporated into a patient's treatment plan. However, it is important not to neglect regular healthcare.
Source: National Institutes of Health
Self-Care For Gaucher’s Disease Patients
People affected by Gaucher’s disease should develop skills to maintain and improve their own well-being. By taking control of your condition you can gain greater independence and confidence in dealing with the physical and emotional challenges of a chronic condition.
Caring For Those With Gaucher’s Disease
Friends and family members can help a patient with Gaucher’s disease by learning about the condition and understanding how it affects the patient's life. Friends and family can provide emotional and physical assistance. Their support can make it easier to cope.
Source: Adapted from National Institutes of Health
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