Hyperlipoproteinemia Tip 1 (HPL-1), also known as hypertriglyceridemia type IV, is a rare disorder of lipoprotein metabolism caused by mutations in the gene that encodes apolipoprotein C-II (APOC2). It is characterized by elevated levels of triglycerides in the blood due to an abnormally high level of very low-density lipoproteins (VLDL). HPL-1 is a genetic disorder that is inherited in an autosomal recessive pattern. It is typically diagnosed in late childhood or early adulthood.
Symptoms of Hyperlipoproteinemia Tip 1
The most common symptom of HPL-1 is elevated triglycerides in the blood. In some cases, other lipid levels may also be affected, such as an increased level of LDL cholesterol and decreased levels of HDL cholesterol. In some cases, xanthomas (cholesterol deposits) may also be seen on the skin or around the eyes. Other symptoms may include abdominal pain, pancreatitis, and acute abdominal pain due to gallstones.
Diagnosis of Hyperlipoproteinemia Tip 1
The diagnosis of HPL-1 is made based on the patient's symptoms, family history, and laboratory tests. Laboratory tests include a lipid panel, which measures the levels of triglycerides, LDL cholesterol, and HDL cholesterol. Genetic testing can also be used to confirm a diagnosis of HPL-1.
Treatment of Hyperlipoproteinemia Tip 1
The treatment of HPL-1 focuses on controlling the levels of triglycerides in the blood. This is typically done with a combination of lifestyle changes, such as diet and exercise, and medications, such as fibrates and statins. In severe cases, plasmapheresis (a procedure that removes fats from the blood) may also be used.