Definition Familial hypertriglyceridaemia is an inherited disorder that causes high triglycerides in the blood.
What is going on in the body? triglycerides are a type of fat in the body, just like cholesterol. Normally, the liver makes a fairly low level of fats. The body uses fats for energy. In familial hypertriglyceridaemia, the liver makes too much triglyceride. This causes the level of triglycerides in the blood to be too high.
What are the signs and symptoms of the condition? This condition usually causes no symptoms. Sometimes, skin rashes can occur if the disease is severe.
What are the causes and risks of the condition? This disease is inherited and occurs in about 1 in 100 people. A person with familial hypertriglyceridaemia has an increased risk of developing pancreatitis. This is an inflammation of the pancreas that may cause severe abdominal pain and, rarely, death.
What can be done to prevent the condition? An inherited trait cannot be prevented. However, the risk of pancreatitis can be reduced with treatment. Genetic counselling may be useful to couples with a family history of this disease.
How is the condition diagnosed? This disease is diagnosed by a blood test and family history. Triglyceride levels in the blood are usually abnormally high without major changes in other cholesterol values.
What are the long-term effects of the condition? Unlike other cholesterol problems, this condition does not seem to cause heart disease. The main long-term concern is pancreatitis. The pancreas is important because it makes insulin and substances to help digest food. If the pancreas stops working properly, as in pancreatitis, these functions may stop working.
What are the risks to others? This condition is inherited, so it is not contagious. However, children and other family members of the affected person should get cholesterol screening. Early diagnosis and treatment may prevent complications.
What are the treatments for the condition? Someone with this disease should discuss treatment with a doctor. This condition responds to diet changes. Affected people should eat a diet low in fat and cholesterol. Conditions that can raise triglycerides should be avoided or treated, such as:
To lower triglycerides, some people may need to take medications, such as:
gemfibrozil
fenofibrate
niacin
What are the side effects of the treatments? Because the liver makes triglycerides, the medications used to treat this condition may affect the liver. For this reason, someone taking these medications often needs periodic liver function tests. Specific side effects vary by the medication and include:
flushing, itching, and increased blood sugar with niacin
muscle aches with gemfibrozil and fenofibrate
What happens after treatment for the condition? Treatment is needed for life.
How is the condition monitored? Blood levels of cholesterol and Triglycerides are measured on a regular basis to see how well treatment is working. Periodic liver function tests are often needed.
Pain in the abdomen or chest should be reported to the doctor right away. This may be a sign of pancreatitis or a heart attack.
Author: Evan M. Sisson, Pharm.D., MHA, CDE Reviewer: HealthAnswers Australia Medical Review Panel Editor: Dr David Taylor, Chief Medical Officer HealthAnswers Australia Last Updated: 1/10/2001 Contributors Potential conflict of interest information for reviewers available on request
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