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Gaucher disease
Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function.The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures. If the bone marrow is affected, it can interfere with your blood's ability to clot.An enzyme that breaks down these fatty substances doesn't work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy.An inherited disorder, Gaucher disease is most common in Jewish people of Eastern and Central European descent (Ashkenazi). Symptoms can appear at any age.
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.
The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.
Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).
Symptoms
There are different types of Gaucher disease, and signs and symptoms of disease vary widely, even within the same type. Type 1 is by far the most common.
Siblings, even identical twins, with the disease can have different levels of severity. Some people who have Gaucher disease have only mild or no symptoms.
Most people who have Gaucher disease have varying degrees of the following problems:
- Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
- Skeletal abnormalities. Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
- Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.
More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age.Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher changed (mutated) gene for their child to inherit the condition
National Institute Of Medical Coding
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