Hyperlipoproteinemia type 1 (HLP type 1) is a hyperlipoproteinemia. Hyperlipoproteinemia is characterized by the inability to break down fat molecules called lipids. HLP type 1 is characterized by high levels of a type of fat called triglycerides. Fats play an important role helping our body work properly. Similar to how oil and water do not mix, fats like triglycerides do not mix well with our blood. Proteins called lipoproteins help fats travel through our blood. Chylomicrons, a type of lipoprotein, help triglycerides travel through blood.
Each person has two copies of every gene, one from each parent. Our genes make up the recipe for who we are. When a gene is mutated, that means that the recipe has been changed in some way. HLP type 1 is inherited in an autosomal recessive pattern meaning that one mutation from each parent is inherited by a child in order to cause symptoms.
Symptoms of HLP type 1 typically begin during early childhood and include stomach pain, nausea, loss of appetite, and pain in muscles and bones. Visible signs include yellowish bumps on or just below the skin, mostly on the hands (xanthomas). These bumps may also occur on the elbows, knees, knuckles, and legs. Inflamed liver, spleen, and pancreas are common. Preexisting health conditions, like diabetes, overactive thyroid, certain kidney diseases, and liver disease, can increase risk of HLP type 1. Drinking alcohol can be harmful because it increases triglyceride levels.
HLP type 1 can be diagnosed with a blood test. A doctor may also use family history to help make a diagnosis. The most common treatment is to make lifestyle changes like eating a low fat diet and regularly exercising. Medications are available if these changes do not work. Xanthomas can typically be removed by surgery. If you or a family member has been diagnosed with familial HLP type 1, talk to your doctor about the most current treatment options.
Description Last Updated: Feb 26, 2018