Gaucher disease is an inherited condition in which a fat molecule called glucocerebroside accumulates in different organs and tissues in the body. The disease is caused by mutations in the GBA gene, which carries the information necessary to make beta-glucocerebrosidase, the enzyme that breaks down glucocerebroside. The mutation either results in small amounts of the enzyme or its complete absence.
Gaucher disease affects multiple organs and bones. However, the central nervous system (brain and spinal cord) is not always affected. Therefore, Gaucher disease can be classified into two main groups:
- Non-neuronopathic Gaucher disease in which the brain and spinal cord are not affected
- Neuronopathic Gaucher disease in which the central nervous system is involved.
Several different forms or types of Gaucher disease have been identified, based on characteristic features, the age of onset, severity, and rate of progression.
Type 1 Gaucher disease
Type 1 Gaucher disease is the most common type of the disease reported in Western countries. It is a non-neuropathic form of the disease and is usually treatable. It affects bones and multiple organs but the severity of the symptoms varies.
Although type 1 Gaucher disease can affect different populations, it is most common in people of Ashkenazi Jewish descent. According to the National Gaucher Foundation, one in every 450 people of Ashkenazi Jewish descent exhibit symptoms of Gaucher disease at some level of severity. These symptoms include swelling of the spleen and liver, lung disease, low platelet and red blood cell counts, arthritis, and frequent bone fractures. Type 1 Gaucher disease symptoms can manifest during childhood or adulthood.
Type 2 Gaucher disease
Type 2 Gaucher disease, which is also called acute infantile neuronopathic Gaucher disease, is a severe form that is usually fatal within two years of birth.
Symptoms appear as early as three to six months after birth, and include early onset brain damage that progresses rapidly. Other symptoms include skin abnormalities, spleen and liver swelling, seizures, spasticity, and difficulty sucking and swallowing. The condition is usually fatal before any bone symptoms appear.
Type 3 Gaucher disease
Type 3 Gaucher disease, also called chronic neuronopathic Gaucher disease, is the most common type worldwide, especially in India, the Pacific Rim, China, and the Middle East. Disease onset usually occurs at a later age than type 2 and progresses slowly into adulthood.
Symptoms are similar to those seen in types 1 and 2 Gaucher disease and include bone deformities, poor coordination, spleen and liver enlargement, seizures, blood disorders, breathing difficulties, and brain damage. Some patients may also develop dementia in advanced stages of this disease type.
Perinatal lethal Gaucher disease
In perinatal lethal Gaucher disease, complications begin before birth or in very early infancy. It is the most aggressive type of Gaucher disease that is usually fatal within days of birth.
Symptoms include hydrops fetalis or excessive fluid accumulation in the fetus, distinct facial features, skin abnormalities such as dry, flaky skin, and severe brain damage.
Cardiovascular Gaucher disease
Cardiovascular Gaucher disease is a type of Gaucher disease that primarily affects the heart. It is sometimes called type 3C Gaucher disease. Symptoms include hardening of the heart valves, eye abnormalities, bone involvement, and swelling of the spleen. Depending on the severity of the heart symptoms, a valve-replacement may be necessary.
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