familial lipoprotein lipase deficiency…

Medical experts recommend this detailed explanation.

[ Find Organization | Index Page ]

coronary artery disease, type i hyperlipoproteinemia, familial chylomicronemia, familial lipoprotein lipase deficiency, group of rare genetic disorders characterized by deficient activity of an enzyme, lipoprotein lipase, breaks down fat molecules, causing the accumulation of large quantities of fat, lipoproteins, blood, a defective gene, the cause of this disorder, is inherited in an autosomal recessive manner, blood tests show a high level of chylomicrons, a lipoprotein that carries fat from digested food, blood stream, chylomicrons, not broken down properly, the deficiency, the lipoprotein lipase enzyme, build-up of fat-laden chylomicrons, in the blood, skin lesions, xanthomas, form, a result of deposits of these chylomicrons, in the skin, inflammation, the pancreas, resulting abdominal pain, risk factors, a family history of lipoprotein lipase deficiency, very high triglycerides, in the blood, multiple unexplained episodes of pancreatitis, failure to thrive in infancy, incidence is 1 out of 1,000,000 people, shows up in infancy, early childhood, abdominal pain, manifest, colic in infancy, nausea, vomiting, loss of appetite, failure to thrive in infancy, musculoskeletal pain, skin lesions, xanthomas, fatty deposits, in the skin, a physical examination, reveal xanthomas, an enlarged liver, an enlarged spleen, jaundice, an eye examination reveals pale retinas, whitish retinal vessels, observations, indicate this disorder is present, milky-appearing serum, plasma from blood, a special test showing little, no lipoprotein lipase activity in blood collected after treatment, intravenous heparin, high triglycerides in blood, elevation of cholesterol, total fat in blood, blood test showing failure to remove chylomicrons from blood more than 12 hours after a meal, overnight icebox test showing chylomicrons in blood serum taken after fasting, apolipoprotein cii deficiency, a rare subset of this disease, normal lipoprotein lipase activity, genetic testing, reveal a mutation, in the genes, lipoprotein lipase, apolipoprotein cii, treatment is intended to control the symptoms, blood triglyceride levels, a very low-fat diet, fat intake, must be less than 20 grams per day to keep the symptoms from coming back, twenty grams of fat is equivalent to one, 2, 8-ounce glasses of whole milk, 4 teaspoons of margarine, 4-ounce serving of meat, average american diet has an average fat content of up to 45% of total calories, fat-soluble vitamins a, d, e, k, mineral supplements, dietary counseling helpful, patients trying to stick to a strict diet, maintain adequate calorie, nutrient intake, pancreatitis responds to conventional treatments, by following a very low-fat diet, live into adulthood, pancreatitis, recurrent episodes of abdominal pain, numerous xanthomas typically occur, in the skin, painful, site of recurrent rubbing, surprisingly, no increased risk of atherosclerosis, heart attacks, screening, lipoprotein lipase deficiency has been diagnosed, family member, have extremely elevated triglyceride levels, genetic counseling, anyone, a family history of this disease, no known prevention, rare, inherited disorder, awareness of risks, allow early detection, prompt institution of a very low fat diet, dramatically improve the symptoms of this disease.