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hyperlipoproteinemia type 3; familial dysbetalipoproteinemia; remnant hyperlipidemia; remnant hyperlipoproteinaemia; broad beta disease; remnant removal disease
Etiology:
1) homozygous apolipoprotein E2/E2
2) exacerbating conditions
a) obesity
b) hypothyroidism
Epidemiology:
1) 1/10,000
2) rarely found in childhood
3) manifestations between ages 30-55 years
Pathology:
1) premature atherosclerosis
2) cerebral & peripheral vascular disease are as common as coronary artery disease
3) increase in plasma chylomicron remnants & intermediate density lipoprotein (IDL)
Genetics:
- polymorphism or defect in apolipoprotein E
- most frequently, homozygous apolipoprotein E2/E2
Clinical manifestations:
1) majority of patients are asymptomatic
2) palmar xanthomas (pathognomonic)
3) obesity
4) diabetes mellitus
Laboratory:
1) elevated serum triglyceride & usually elevated serum cholesterol
2) VLDL cholesterol/triglyceride ratio exceeds 0.25
3) abnormal VLDL & apolipoprotein E (quantitative or qualitative)
-> broad beta band on agarose gel
4) isoelectric focusing gel for apo E2/apo E2 genotype
Management:
1) treat exacerbating disorders
a) obesity
b) hypothyroidism
2) maintenance diet restricting calories, cholesterol, saturated fats & alcohol
3) pharmaceutical agents
a) fibrates
b) niacin
4) LDL apheresis [5]
General
hyperlipoproteinemia (HLP)
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 107741
MORBIDMAP 107741
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 :accession 107741
- Koehler VF, Parhofer KG.
Images in Clinical Medicine. Xanthoma Striatum Palmare.
N Engl J Med 2018; 378:e26. May 10, 2018
PMID: 29742369
https://www.nejm.org/doi/full/10.1056/NEJMicm1713658