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Familial chylomicronemia syndrome: A rare but devastating autosomal recessive disorder characterized by refractory hypertriglyceridemia and recurrent pancreatitis.
Chyzhyk, Vadzim; Brown, Alan S.
Affiliation
  • Chyzhyk V; Division of Cardiology, Advocate Heart Institute at Advocate Lutheran General, Hospital, 1775 Dempster St., Parkside B-01, Park Ridge, IL 60068, USA.
  • Brown AS; Division of Cardiology, Advocate Heart Institute at Advocate Lutheran General, Hospital, 1775 Dempster St., Parkside B-01, Park Ridge, IL 60068, USA. Electronic address: alan.brown@advocatehealth.com.
Trends Cardiovasc Med ; 30(2): 80-85, 2020 02.
Article in En | MEDLINE | ID: mdl-31003756
Familial Chylomicronemia Syndrome (FCS) is a rare autosomal recessive lipid disorder characterized by severe hypertriglyceridemia and recurrent pancreatitis. Because the disorder is often misdiagnosed or not diagnosed and because traditional triglyceride lowering medications are often ineffective, the disease leads to a tremendous physical, social and emotional burden on afflicted patients and their caretakers. Mutations in 5 different genes have been implicated in the development of FCS, all of which have an effect on the activity of lipoprotein lipase. Lipoprotein lipase(LPL) is responsible for removing triglycerides from chylomicrons and other triglyceride rich lipoproteins in the circulation, breaking them down into free fatty acids for use as energy. Patients with FCS have loss of function of their LPL leading to severely elevated chylomicrons in the circulation and hence, severe hypertriglyceridemia. The principle treatment for FCS is to reduce chylomicron formation in the gut by placing the patient on an extremely low fat diet. New medications in development hold significant promise for improving the quality of life for FCS patients.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pancreatitis / Triglycerides / Hyperlipoproteinemia Type I / Mutation Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Aspects: Patient_preference Limits: Humans Language: En Journal: Trends Cardiovasc Med Journal subject: ANGIOLOGIA / CARDIOLOGIA Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pancreatitis / Triglycerides / Hyperlipoproteinemia Type I / Mutation Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Aspects: Patient_preference Limits: Humans Language: En Journal: Trends Cardiovasc Med Journal subject: ANGIOLOGIA / CARDIOLOGIA Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States