People with high triglycerides, or hypertriglyceridemia, have high amounts of fats in their blood. Triglycerides are derived from fatty foods in the diet and are also made by the liver. Triglycerides are normally an essential energy source in the muscles, but when levels are abnormally elevated, they can lead to heart disease by causing arteries to clog up and can also contribute to other health problems, such as abdominal pain caused by inflammation of the pancreas (pancreatitis). Some people are more susceptible to having high triglycerides due to a combination of genetics passed down from parents, diseases such as diabetes, and lifestyle factors. Doctors measure the levels of triglycerides with a simple blood test. Levels above 150mg/dL are generally considered hypertriglyceridemia. If you have been told by your doctor or another healthcare provider that you have high triglycerides or hypertriglyceridemia and your triglyceride levels are > 500mg/dL, click here to learn more about the Compass Study.
Chylomicrons are little packets of triglycerides, made by the intestine after a meal, that travel through the bloodstream to deliver triglycerides to muscles and other organs. Chylomicrons are normally removed from the bloodstream several hours after a meal. In some people, chylomicrons are not removed and instead accumulate in the bloodstream, causing the blood to have a milky appearance referred to as lipemia. The presence of excess chylomicrons in the blood is referred to as chylomicronemia. Chylomicronemia is a condition caused by a combination of genetic (i.e., passed down from parents), environmental or lifestyle factors. A simple blood test can detect chylomicronemia by measuring highly elevated triglyceride levels in the blood. People with chylomicronemia may develop fat deposits on their skin called eruptive xanthomas. They often experience abdominal pain (pain in the stomach area) and have a higher risk of developing inflammation of the pancreas, called pancreatitis. Pancreatitis can cause severe pain in the stomach area, often requires long hospital stays, and may be fatal during the most severe episodes. If you have been told by your doctor or another healthcare provider that you have any of the following: severely high triglycerides (> 750mg/dL), Lipoprotein Lipase (LPL) deficiency, chylomicronemia, or you have a history of pancreatitis, read more below or click here to learn more about the APPROACH Study.
FCS, also known as Type 1 Hyperlipoproteinemia, Fredrickson Type 1 Hyperlipidemia and LPL Deficiency, is a rare genetic disorder passed down through families. Loss-of-function mutations in other genes related to triglyceride metabolism (such as LPL, apolipoprotein C-II (apoCII), glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1) and lipase maturation factor 1 (LMF1)) are also known to be associated with FCS. In patients with FCS, the process that normally removes chylomicrons and triglycerides from the bloodstream either doesn’t work properly or doesn’t work at all. In these patients, even small amounts of fat in the diet can result in severely elevated chylomicrons and triglycerides, which in turn can result in leading to health problems such as pancreatitis. Volanesorsen (formerly ISIS-APOCIIIRx) is being evaluated in these patients to determine whether treatment can lower blood chylomicron and triglyceride levels. Elevated levels of chylomicrons and triglycerides have been associated with increased risk of acute pancreatitis.
Familial Partial Lipodystrophy (FPL) is an under-diagnosed, rare, metabolic disease characterized by abnormal fat distribution across the body (with loss of fat (also called adipose tissue) in the arms, legs, and buttocks and excess fat accumulation in the face, neck and upper trunk), and a range of important issues with metabolism. Patients with FPL are unable to store a specific type of fat called triglycerides in normal locations, so excess triglycerides are stored in the liver and muscle. These fat deposits lead to significant metabolic complications including severe insulin resistance, hypertriglyceridemia and increased liver fat (called hepatic steatosis). Patients often present with diabetes and severe insulin resistance requiring high doses of insulin. Other evidence of severe insulin resistance is provided by the presence of dark, thickened skin potentially found in patient’s armpits, groin and neck (this is called acanthosis nigricans) and polycystic ovary syndrome symptoms (like excessive hair growth which is also known as hirsutism and unusual variations in menstrual cycles which is called oligomenorrhea). Triglyceride levels remain persistently elevated despite fully optimized therapy or diet modifications. As a result of these issues FPL patients are at an increased risk of heart disease, pancreatitis (a condition where the pancreas becomes inflamed, leading to severe abdominal pain and potentially death) and liver problems, including cirrhosis. Additional information on FPL is available through Lipodystrophy United at www.lipodystrophyunited.org.
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