What is familial hypertriglyceridemia?
Familial hypertriglyceridemia (FHTG) is a genetic condition where individuals have high levels of triglycerides in the blood due to inherited factors. This condition can lead to an increased risk of cardiovascular disease and other health issues.
What causes familial hypertriglyceridemia?
FHTG is caused by genetic mutations that affect the metabolism of triglycerides. These mutations can impact the production, breakdown, or clearance of triglycerides in the blood. Common genetic factors include mutations in genes such as LPL (lipoprotein lipase), APOA5 (apolipoprotein A5), and others involved in lipid metabolism.
How is familial hypertriglyceridemia inherited?
Familial hypertriglyceridemia is usually inherited in an autosomal dominant pattern. This means that inheriting a single copy of the mutated gene from one parent can increase the risk of developing the condition. There are also autosomal recessive forms, which require mutations in both copies of the gene to manifest the condition.
What are the symptoms of familial hypertriglyceridemia?
Many individuals with FHTG may not experience noticeable symptoms. However, potential signs and symptoms can include:
- Pancreatitis: Severe abdominal pain due to inflammation of the pancreas, which can occur with very high triglyceride levels.
- Xanthomas: Fatty deposits under the skin or around the eyes.
- Eruptive Xanthomas: Small, yellowish-orange bumps on the skin, often found on the buttocks, elbows, and knees.
- Lipemia Retinalis: A condition where the retina appears pale due to elevated triglycerides in the blood.
How is familial hypertriglyceridemia diagnosed?
Diagnosis of FHTG typically involves:
- Blood Tests: Measuring triglyceride levels in the blood. Diagnosis is usually confirmed when triglyceride levels are consistently elevated above 200 mg/dL.
- Genetic Testing: Identifying specific genetic mutations associated with FHTG.
- Family History: Evaluating family history to identify patterns consistent with a genetic disorder.
What are the treatment options for familial hypertriglyceridemia?
Treatment for FHTG may include:
- Lifestyle Modifications: Adopting a healthy diet low in saturated fats and refined carbohydrates, increasing physical activity, and maintaining a healthy weight.
- Medications: Drug therapies may include fibrates (e.g., fenofibrate), niacin, or omega-3 fatty acids to help lower triglyceride levels. Statins may also be used to manage lipid levels, though they are less effective in lowering triglycerides compared to fibrates.
- Monitoring and Management: Regular monitoring of triglyceride levels and managing other risk factors for cardiovascular disease.