Familial hypertriglyceridemia is an inherited disorder that causes high triglycerides in the blood.
Triglycerides, like cholesterol, are a type of fat in the body. Normally, the liver makes a relatively small amount of fats. The body uses fats for energy. In familial hypertriglyceridemia, the liver makes too much triglyceride, causing the level of triglycerides in the blood to be too high.
This condition usually causes no symptoms. Sometimes, skin rashes can occur if the disease is severe.
This disease is inherited and occurs in about 1 in 100 people. A person with familial hypertriglyceridemia has an increased risk of developing pancreatitis. This is an inflammation of the pancreas that may cause severe abdominal pain and, rarely, death.
An inherited trait cannot be prevented. However, the risk of pancreatitis can be reduced with treatment. Genetic counseling may be useful to couples with a family history of this disease.
This disease is diagnosed by a blood test and family history. Triglyceride levels in the blood are usually abnormally high without major changes in the cholesterol values.
Unlike with 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 because of pancreatitis, these functions may be impaired.
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.
Someone with this disease should discuss treatment with a healthcare professional. 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: poorly controlled diabetes an underactive thyroid gland, that is, hypothyroidism obesity or being overweightkidney disease severe infectionalcohol abuse
To lower triglycerides, some people may need to take medications, such as: gemfibrozil (i.e., Lopid)fenofibrate (i.e., Lofibra, Tricor, Triglide)niacin (i.e., Niaspan, Slo-Niacin)
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 niacinmuscle aches with gemfibrozil and fenofibrate
Treatment is needed for life.
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 healthcare professional immediately. This may be a sign of pancreatitis or a heart attack.
