If you or a loved one has been diagnosed with Gaucher disease, know that you are not the only person in the world who experiences this. Gaucher disease affects up to 1 in 40.000 live births in the general population.
What is
Gaucher disease is one of the most common lysosomal storage disorders and results from not having enough glucocerebrosidase, an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-laden Gaucher cells accumulate in areas such as the spleen, liver, bone marrow, and nervous system interfering with normal functioning.
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There are three recognized types of Gaucher disease and each has a wide range of symptoms. Type 1 is the most common, It does not affect the nervous system and can appear early in life or in adulthood. Many people with Gaucher disease type 1 have such mild symptoms that they never have any problems from the disease.
Types 2 and 3 affect the nervous system. Type 2 causes serious medical problems starting in childhood, while type 3 progresses more slowly than type 2. There are also other, more unusual forms that are difficult to classify within the three types.
Gaucher disease is caused by changes (mutations) in a single gene called GBA.. Mutations in the GBA gene cause very low levels of glucocerebrosidase. A person who has Gaucher disease inherits a mutated copy of the GBA gene from each of his or her parents.
Type 1 is most commonly found among people who have Ashkenazi (Eastern European) Jewish ancestry. Gaucher disease type 1 is present 1 in 500 to 1 in 1000 people of Ashkenazi Jewish ancestry, and approximately 1 in 14 Ashkenazi Jews is a carrier. Gaucher diseases type 2 and type 3 are not as common.
Being a carrier of the disease
If you are a carrier of Gaucher disease, it means you only have a single genetic mutation associated with the disorder. To have the actual disease, you need to have two mutations in the gene: one from your mother and one from your father.
When both parents are carriers, each pregnancy has a 1 in 4 chance of the baby being born with the disease. People with Gaucher disease carrier status have no signs or symptoms.
Symptom
The symptoms of Gaucher disease vary greatly among those who suffer from the disorder. The main clinical symptoms include:
- Enlargement of the liver and spleen (hepatosplenomegaly).
- Low number of red blood cells (anemia).
- Easy bruising is due, in part, to a low level of platelets (thrombocytopenia).
Bone disease (bone pain and fractures). - Other symptoms that depend on the type of Gaucher disease include heart, lung, and nervous system problems.
Symptoms by type of disease
Symptoms of type 1 Gaucher disease include bone disease, hepatosplenomegaly, anemia and thrombocytopenia, and lung disease.
Symptoms in type 2 and type 3 Gaucher disease include type 1 and other problems that affect the nervous system, such as eye problems, seizures, and brain damage. In Gaucher disease type 2, serious medical problems begin in childhood. These people generally do not live beyond two years.
There are also some patients with Gaucher disease type 2 who die in the neonatal period., often with severe skin problems or excessive fluid buildup (dropsy). People with Gaucher disease type 3 may have symptoms before the age of two, but often have a progressively slower disease process and the degree of brain involvement is quite variable. They usually have slow horizontal eye movements.
It has recently been noted that both Gaucher disease patients and Gaucher carriers have an increased risk of developing Parkinson's disease and related disorders.
Diagnosis
The diagnosis of Gaucher disease is based on clinical symptoms and laboratory tests. A diagnosis of Gaucher disease may be suspected in people with bone problems, enlarged liver and spleen (hepatosplenomegaly), changes in red blood cell levels, easy bleeding and bruising from low platelets or signs of nervous system problems.
Laboratory tests involve a blood test to measure the level of activity of the enzyme glucocerebrosidase. People who have Gaucher disease have very low levels of this enzyme activity. A second type of laboratory test involves DNA analysis of the GBA gene for the four most common GBA mutations. Both enzyme and DNA tests can be done before delivery. A bone marrow or liver biopsy is not necessary to establish the diagnosis.
When the specific gene mutation that causes Gaucher disease is known in a family, DNA testing can be used to accurately identify carriers. However, it is often not possible to predict the patient's clinical course based on DNA testing.
Treatment
Gaucher disease type 1, the most common form of Gaucher disease in Western countries, is treatable. Non-neurological symptoms associated with type 3, the most common form of the disease worldwide, can also be treated. For type 3 patients without severe or worsening brain involvement, treatment of Gaucher disease can minimize symptoms and improve overall health.
Available treatments include enzyme replacement therapy and substrate reduction therapy. It is essential to work with a Gaucher specialist who can monitor health and make medication adjustments as necessary.
Enzyme replacement therapy
Enzyme replacement therapy balances low GCase levels in patients with Gaucher disease so their bodies can break down glucocerebroside. (This compensates for the missing enzyme, which is why the therapy is called enzyme replacement.) This Therapy involves receiving intravenous transfusions approximately every 2 weeks, either at a transfusion center or at home.
Substrate reduction therapy
Substrate reduction therapy is a newer treatment that works differently than previous therapy. This type of treatment is an oral medication that decreases the amount of glucocerebroside the body produces., reducing excess accumulation.