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Familial Hypertriglyceridemia

Alternate Names

  • type IV hyperlipoproteinemia

Definition

Familial hypertriglyceridemia is an inherited disorder that causes high triglycerides in the blood.

What is going on in the body?

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.

Risks

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 hypertriglyceridemia has an increased risk of developing pancreatitis. This is an inflammation of the pancreas that may cause severe abdominal pain and, rarely, death.

Prevention

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 counseling may be useful to couples with a family history of this disease.

Diagnosed

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 the cholesterol values.

Long Term Effects

What are the long-term effects of the condition?

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.

Other Risks

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.

Treatments

What are the treatments for the condition?

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 overweight
  • kidney disease
  • severe infection
  • alcohol 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)

Side Effects

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

After Treatment

What happens after treatment for the condition?

Treatment is needed for life.

Monitor

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 healthcare professional immediately. This may be a sign of pancreatitis or a heart attack.

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