Publication Cover
Baylor University Medical Center Proceedings
The peer-reviewed journal of Baylor Scott & White Health
Volume 31, 2018 - Issue 3
110
Views
3
CrossRef citations to date
0
Altmetric
Original Research

Identifying suspected familial chylomicronemia syndrome

, MD, , MD, MPH, , BA, CCRP ORCID Icon & , PhD ORCID Icon
Pages 284-288 | Received 05 Mar 2018, Accepted 09 Apr 2018, Published online: 21 May 2018

  • Gelrud A, Williams KR, Hsieh A, Gwosdow AR, Gilstrap A, Brown A. The burden of familial chylomicronemia syndrome from the patients' perspective. Expert Rev Cardiovasc Ther. 2017;15:879–887. doi:10.1080/14779072.2017.1372193. PMID:28847199.
  • Brahm A, Hegele RA. Chylomicronaemia—current diagnosis and future therapies. Nat Rev Endocrinol. 2015;11:352–362. doi:10.1038/nrendo.2015.26. PMID:25732519.
  • Stroes E, Moulin P, Parhofer KG, Rebours V, Löhr JM, Averna M. Diagnostic algorithm for familial chylomicronemia syndrome. Atheroscler Suppl. 2017;23:1–7. doi:10.1016/j.atherosclerosissup.2016.10.002. PMID:27998715.
  • Santamarina-Fojo S. The familial chylomicronemia syndrome. Endocrinol Metab Clin North Am. 1998;27:551–567. doi:10.1016/S0889-8529(05)70025-6. PMID:9785052.
  • Davidson M, Stevenson M, Hsieh A, Ahmad Z, Crowson C, Witztum JL. The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study. Expert Rev Cardiovasc Ther. 2017;15:415–423. doi:10.1080/14779072.2017.1311786. PMID:28338353.
  • Kota S, Kota SK, Jammula S, Modi KD. Familial chylomicronemia syndrome—an uncommon cause of acute pancreatitis with encephalopathy. Indian J Gastroenterol. 2012;31:277–279. doi:10.1007/s12664-012-0261-6. PMID:23081844.
  • Gagné C, Brun LD, Julien P, Moorjani S, Lupien PJ. Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population. CMAJ. 1989;140:405–411. PMID:2914262.
  • Rabacchi C, D'Addato S, Palmisano S, et al. Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene. J Clin Lipidol. 2016;10:915–921.e4. doi:10.1016/j.jacl.2016.03.009. PMID:27578123.
  • Ma Y, Henderson HE, Murthy V, et al. A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. N Engl J Med. 1991;324:1761–1766. doi:10.1056/NEJM199106203242502. PMID:2038366.
  • Nikkilä E. Familial lipoprotein lipase deficiency and related disorders of chylomicron metabolism. In: Stanbury J, Wyngaarden JB, Fredrickson DS, et al, eds. The Metabolic Basis of Inherited Disease. 5th ed. New York, NY: McGraw-Hill; 1983:622–642.
  • Miller M, Stone NJ, Ballantyne C, et al; American Heart Association Clinical Lipidology, Thrombosis, and Prevention Committee of the Council on Nutrition, Physical Activity, and Metabolism; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular Nursing; Council on the Kidney in Cardiovascular Disease. Triglycerides and cardiovascular disease: a scientific statement from the American Heart Association. Circulation. 2011;123:2292–2333. doi:10.1161/CIR.0b013e3182160726. PMID:21502576.
  • Gaudet D, de Wal J, Tremblay K, et al; Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency. Atheroscler Suppl. 2010;11:55–60. doi:10.1016/j.atherosclerosissup.2010.03.004. PMID:20427244.
  • Burnett J, Hooper AJ, Hegele RA. Familial lipoprotein lipase deficiency. In: Adam M, Ardinger HH, Pagon RA, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle. PMID:20301485. Accessed April 9, 2018.
  • Heilman K, Fisher WR. Hyperlipidemic dementia. Arch Neurol. 1974;31:67–68. doi:10.1001/archneur.1974.00490370093018. PMID:4834546.
  • Normand T, Bergeron J, Fernandez-Margallo T, et al. Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec. Hum Genet. 1992;89:671–675. doi:10.1007/BF00221960. PMID:1511985.
  • Blom D. Characterizing familial chylomicronemia syndrome: baseline data of the APPROACH study. J Clin Lipidology. 2017;11:816. doi:10.1016/j.jacl.2017.04.073.
  • Gaudet D. Familial chylomicronemia syndrome (FCS) patients recruited to the APPROACH trial of volanesorsen therapy are representative of subjects with FCS. J Clin Lipidol. 2017;11:817–818. doi:10.1016/j.jacl.2017.04.076.
  • Lin F, Thomas S, Calado F, Clegg J. Long-term costs and consequences of patients with familial chylomicronemia syndrome—a simulation model approach. Value Health. 2014;17:A400. doi:10.1016/j.jval.2014.08.908. PMID:27200950.
  • Won J, Zhang J, Tecson KM, McCullough PA. Balancing low-density lipoprotein cholesterol reduction and hepatotoxicity with lomitapide mesylate and mipomersen in patients with homozygous familial hypercholesterolemia. Rev Cardiovasc Med. 2017;18:21–28. PMID:28509890.
  • Meyers C, Tremblay K, Amer A, Chen J, Jiang L, Gaudet D. Effect of the DGAT1 inhibitor pradigastat on triglyceride and apoB48 levels in patients with familial chylomicronemia syndrome. Lipids Health Dis. 2015;14:1–9. doi:10.1186/s12944-015-0006-5. PMID:25889044.
  • Schmitz J, Gouni-Berthold I. Apoc-III antisense oligonucleotides: a new option for the treatment of hypertriglyceridemia. Curr Med Chem. 2017. doi:10.2174/0929867324666170609081612.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.