What is the lack of lipoprotein lipase?

The lack of lipoprotein lipase is a disorder that inhibits the ability of a person to correctly distribute fats. This condition is also known as hyperlipoproteinemia of type 1, chylomicronemia or lack of familial lipoprotein lipase. Patients with this disease have an elevated level of fat called triglycerides in their blood and suffer from symptoms such as abdominal pain. After the diagnosis of this disorder, usually based on measurement of lipoprotein lipase activity, patients are initiated on a low fat diet.

patients with lack of lipoprotein lipases have reduced activity protein lipoprotein lipases (LPL), a chemical that usually helps to break down triglycerides to be transported to body cells. Several different genetic mutations causing syndrome have been identified. Abnormality in coding deoxyribonucleic acid (DNA) for LPL can cause disorder, as well as mutations in apoprotein C C-II, a protein that normally helps to activate LPL. IllnessE often transmits in an autosomal recessive way, which means that patients must inherit mutated genes from both parents to develop this condition.

The lack of a properly functioning lipoprotein lipase enzyme means that cells of the affected patients are unable to take blood from blood. As a result, patients with this disorder have extremely elevated triglycerides in their bloodstream. These high fat levels can cause a number of symptoms, including abdominal pain, skin lesions called xanthomata, which represent subcutaneous fat accumulation and repeating problems of abdominal inflammation, which is known as pancreatitis. In the long run, they have an increased risk for heart disease and are often monitored by doctors who specialize in cardiology.

diagnosis of lipoproteum lack of lipase deficiency is often performed by the patient's blood control for LPL activity. In other patients the diagnosis is based onClinical suspicion because patients will have a very high level of triglycerides in their blood from a young age and often suffer from a number of symptoms. Once one person is diagnosed with this condition, it is usually recommended that other family members check their concentrations of blood triglycerides on an empty stomach to see if it also has increased levels.

The basis of the treatment of patients with a lack of lipoprotein lipase is to maintain a very low -fat diet for them, with many experts recommending daily consumption of less than 20 grams of fat. The patient triglycerides are routinely controlled to ensure that the levels are not too high, as high concentrations can initiate pancreatitis attack. Patients are also recommended to avoid consuming substances that could cause an increase in triglycerides, including medical containing estrogenons and alcohol.