hyperlipoproteinemia type 3; familial dysbetalipoproteinemia; remnant hyperlipidemia; remnant hyperlipoproteinaemia; broad beta disease; remnant removal disease
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Etiology
- homozygous apolipoprotein E2/E2
- exacerbating conditions
Epidemiology
- 1/10,000
- rarely found in childhood
- manifestations between ages 30-55 years
Pathology
- premature atherosclerosis
- cerebral & peripheral vascular disease are as common as coronary artery disease
- increase in plasma chylomicron remnants & intermediate density lipoprotein (IDL)
Genetics
- polymorphism or defect in apolipoprotein E
- most frequently, homozygous apolipoprotein E2/E2
Clinical manifestations
- majority of patients are asymptomatic
- palmar xanthomas (pathognomonic)
- obesity
- diabetes mellitus
Laboratory
- elevated serum triglyceride & usually elevated serum cholesterol
- VLDL cholesterol/triglyceride ratio exceeds 0.25
- abnormal VLDL & apolipoprotein E (quantitative or qualitative)
- isoelectric focusing gel for apo E2/apo E2 genotype
Management
- treat exacerbating disorders
- maintenance diet restricting calories, cholesterol, saturated fats & alcohol
- pharmaceutical agents
- LDL apheresis[5]
More general terms
References
- ↑ Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 208
- ↑ Tietz Textbook of Clinical Chemistry, 2nd ed. Burtis CA & Ashwood ER (eds), WB Saunders Co, Philadelphia PA, 1993, pg 1042
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998
- ↑ OMIM https://mirror.omim.org/entry/107741
- ↑ 5.0 5.1 Koehler VF, Parhofer KG. Images in Clinical Medicine. Xanthoma Striatum Palmare. N Engl J Med 2018; 378:e26. May 10, 2018 PMID: https://www.ncbi.nlm.nih.gov/pubmed/29742369 https://www.nejm.org/doi/full/10.1056/NEJMicm1713658