Gaucher Disease
Description
Gaucher disease is a rare, genetic disorder that affects the body‘s ability to break down certain fats, called lipids. This buildup of lipids can lead to a range of symptoms, primarily affecting the liver, spleen, bones, and nervous system. The severity of Gaucher disease varies greatly depending on the type and the individual‘s genetic makeup. With early diagnosis and appropriate management, individuals with Gaucher disease can live long, fulfilling lives.
Genes Involved
Gaucher disease is caused by mutations in the GBA gene. This gene provides instructions for making the enzyme glucocerebrosidase. This enzyme is essential for breaking down a fatty substance called glucocerebroside. When the GBA gene is mutated, the body doesn‘t produce enough glucocerebrosidase, leading to the buildup of glucocerebroside in the cells.
Recognizing the Signs and Symptoms
The signs and symptoms of Gaucher disease can vary depending on the type and severity of the condition. Some common symptoms include:
- Enlarged liver and spleen: This is often the first sign of Gaucher disease, and it can cause abdominal discomfort and fullness.
- Bone pain: Gaucher disease can affect bone density and lead to fractures.
- Easy bruising and bleeding: The buildup of lipids in the bone marrow can interfere with the production of blood cells, leading to easy bruising and bleeding.
- Fatigue: This is often a common symptom of Gaucher disease, and it can be caused by the body‘s effort to manage the buildup of lipids.
- Jaundice: This yellowing of the skin and eyes can occur due to liver dysfunction.
- Neurological problems: In some cases, Gaucher disease can affect the nervous system, leading to problems such as seizures, tremors, and cognitive decline.
- Eye problems: In rare cases, Gaucher disease can cause eye problems such as retinal abnormalities.
Causes
Gaucher disease is caused by a genetic mutation in the GBA gene. This gene provides instructions for making the enzyme glucocerebrosidase. Mutations in this gene lead to a deficiency or absence of the enzyme, causing the buildup of glucocerebroside. This genetic disorder is inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene for their child to be affected.
If both parents are carriers, there is a 25% chance their child will inherit the disorder, a 50% chance their child will be a carrier, and a 25% chance their child will not have the disorder and be a carrier.
Inheritance/recurrence risk
Gaucher disease is an autosomal recessive disorder. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. If both parents are carriers of the mutated gene, there is a 25% chance their child will inherit the disorder, a 50% chance their child will be a carrier, and a 25% chance their child will not have the disorder and be a carrier.
The risk of recurrence depends on the parents‘ genetic status. If both parents are carriers, there is a 25% chance of having a child with Gaucher disease in each pregnancy. Genetic counseling is important for families affected by Gaucher disease to understand their risk of having a child with the disorder and to make informed decisions about family planning.
