Going Against Gaucher Disease
You have bone pain. You bruise easily and have bleeding problems. You might have Gaucher disease.
Gaucher disease is a rare genetic disorder which is caused by the deficiency of a key enzyme, glucocerebrosidase. The disease is the most common lipid storage disorder.
The deficiency causes a fatty substance, glucocerebroside, to collect in scavenger cells, called macrophages, in certain tissues in the body, such as the spleen, liver and bone marrow. The cells might collect in the lymphatic system, lungs, skin, eyes, kidney, heart and, in rare instances, the nervous system.
Frequently, an organ that contains Gaucher cells becomes enlarged and does not function properly. An enlarged spleen may cause the abdomen to become distended so that a person appears overweight or looks pregnant.
Although the disease most often becomes apparent in childhood or early adulthood, some patients do not have symptoms until later in life. Some never develop symptoms. However, for those that do have symptoms, they include enlarged liver and spleen, bone deterioration and other related conditions.
If both parents are carriers of Gaucher disease, there is a 25 percent chance with each pregnancy of having a child with the disease. If only one parent is a carrier, the worst that might happen is that the offspring will become carriers.
Individuals of any ethnic background, including blacks and Hispanics, may be affected, though it is more prevalent among descendants of European Jews. And although the disease is rare, it is nonetheless as common as sickle cell anemia in the black population or hemophilia in the general population.
The course of the disease is quite variable ranging from no outward symptoms to severe disability and death.
There are three clinical forms of the disease. Type 1, by far the most common, is characterized by easy bruising, fatigue resulting from anemia, low blood platelets, enlargement of the liver and spleen, weakening of the skeleton, and in some cases, lung and kidney problems.
The second group of patients, called Type 2, experience manifestations of the disease as early as 3 months of age. Additionally, Type 2 patients suffer from extensive and progressive brain damage. Often, Type 2 patients succumb to the disease by age 2.
Patients with Type 3 often have some form of liver and spleen enlargement. Signs of brain involvement such as seizures also gradually become more apparent.
Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder in Europe, Israel, Canada, and the United States.
According to the Cleveland Clinic, Gaucher disease Type 1 is treatable. Treatments either increase enzyme levels or decrease the fatty substance that builds up in the body in Gaucher disease. There is no treatment for the neurological damage of Type 2 and 3. Treatment for Type 1 includes:
§ Enzyme replacement therapy (ERT): People with Gaucher disease need ERT regularly (every two weeks) for treatment to be effective. Your provider will give you an enzyme infusion intravenously (through a vein in your arm). You can receive infusions at an infusion center or (if you are tolerating the infusions well) they can be given in your home. During ERT, the enzyme is delivered directly into your bloodstream from where it can reach your organs and bones to break down fatty chemicals so they can’t build up.
§ Substrate reduction therapy (SRT): This treatment reduces fatty chemicals so they can’t build up in your body. SRT treatment is taken orally (by mouth). You must continually take the medication to prevent damage to your body.
There is no way to prevent Gaucher disease if you have the gene mutations. Early treatment may prevent damage to your organs and bones from Gaucher disease Type 1.
If a DNA test shows that you are a Gaucher disease carrier, you may need genetic counseling in regards to starting a family.
It is important to remember that with treatment, those with Type 1 can lead productive lives. Without treatment, Gaucher disease can cause permanent damage.
Treatment of Gaucher disease Type 3 can help patients live into their 20s and 30s. But treatment for Type 3 only addresses problems affecting the blood, organs and bones. It doesn’t improve brain function or repair neurological damage. Due to severe brain damage, children with Type 2 will pass away within the first three years of life.
If you suspect that you or your child may have Gaucher disease, speak to your health provider. With effective treatment and research, there is hope for patients with this disorder.
