Lipoprotein lipase deficiency, also known as type 1 hyperlipoproteinemia, inhibits the breakdown of fats and causes high levels of triglycerides in the blood, leading to symptoms such as abdominal pain and an increased risk of heart disease. Diagnosis is made by checking LPL activity in the blood, and treatment involves a low-fat diet and avoiding triggers such as estrogen-containing medications and alcohol.
Lipoprotein lipase deficiency is a disorder that inhibits a person’s ability to properly break down fats. This condition is also known as type 1 hyperlipoproteinemia, chylomicronemia, or familial lipoprotein lipase deficiency. Patients with this disease have high levels of a type of fat called triglycerides in their blood and experience symptoms such as abdominal pain. After diagnosis of this disorder, usually based on measurement of lipoprotein lipase activity in the blood, patients begin a low-fat diet.
Patients with lipoprotein lipase deficiency have decreased activity of the protein lipoprotein lipase (LPL), which is a chemical that usually helps break down triglycerides so they can be transported to cells in the body. Several genetic mutations that cause the syndrome have been identified. An abnormality in the deoxyribonucleic acid (DNA) that codes for LPL can cause the disorder, as can a mutation in apoprotein C-II, a protein that normally helps activate LPL. The disease is often transmitted in an autosomal recessive manner, meaning patients must inherit mutated genes from both parents to develop the condition.
The lack of a properly functioning lipoprotein lipase enzyme means that affected patients’ cells are unable to absorb fats from the blood. As a result, patients with this disorder have extremely high levels of triglycerides in their blood. These high levels of fat can cause a range of symptoms including abdominal pain, skin lesions called xanthomas which represent the accumulation of fat under the skin, and recurring problems with inflammation of the pancreas, a condition known as pancreatitis. In the long term, they have an increased risk of heart disease and are often monitored by doctors who specialize in cardiology.
The diagnosis of lipoprotein lipase deficiency is often made by checking the LPL activity in a patient’s blood. In other patients, the diagnosis is based on clinical suspicion, as patients will have very high blood triglyceride levels from a young age and often also suffer from a range of symptoms. Once a person has been diagnosed with this condition, other family members are typically advised to check their fasting blood triglyceride concentrations to see if they too have elevated levels.
The mainstay of treatment for patients with lipoprotein lipase deficiency is maintenance of a low-fat diet, with many experts recommending a daily intake of less than 20 grams of fat. The patient’s triglyceride levels are checked regularly to ensure that levels do not get too high, as high concentrations can trigger a pancreatitis attack. Patients are also advised to avoid substances that could trigger an increase in triglyceride levels, including estrogen-containing medications and alcohol.
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