Hyperlipoproteinemia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Classification

Hyperlipoproteinemia

Type I: Familial hyperchylomicronemia

Type II

Type III: Dysbetalipoproteinemia

Type IV: Primary hypertriglyceridemia

Type V: Mixed hyperlipoproteinemia

Type A: Familial hypercholesterolemia

Type B: Familial combined hyperlipidemia

Synopsis

Hyperlipoproteinemia	Synonyms	Problems	Labs description	Treatment
Type I	Buerger-Gruetz syndrome, primary hyperlipoproteinaemia, or familial hyperchylomicronemia	Decreased lipoprotein lipase (LPL) or altered ApoC2	Elevated chylomicrons	Diet control
Type IIa	Polygenic hypercholesterolaemia or familial hypercholesterolemia	LDL receptor deficiency	Elevated LDL only	Bile acid sequestrants, statins, niacin
Type IIb	Combined hyperlipidemia	Decreased LDL receptor and increased ApoB	Elevated LDL, VLDL and triglycerides	Statins, niacin, gemfibrozil
Type III	Familial Dysbetalipoproteinemia	Defect in ApoE synthesis	Increased IDL	Drug of choice: Gemfibrozil
Type IV	Endogenous Hyperlipemia	Increased VLDL production and decreased elimination	Increased VLDL	Drug of choice: Niacin
Type V	Familial Hypertriglyceridemia	Increased VLDL production and decreased LPL	Increased VLDL and chylomicrons	Niacin, gemfibrozil

Differential Diagnosis

	Diseases	Mode of Inheritance	Laboratory Findings								Other Findings	Management	Complications	Prognosis
			Lipid Profile					Other Laboratory Findings
			Total Cholesterol	LDL	HDL	Triglycerides	Plasma Appearance	Chylomicrons	VLDL	Genetic mutations
Primary Hyperlipoprotenemia	Type I	Autosomal Recessive & Autosomal Dominant(Rare)	Normal or ↑	↓	↓↓↓	↑↑↑↑	Milky	↑↑↑↑	↓	-LPL gene mutation	-Fat tolerance markedly abnormal -Carbohydrate inducibility may be abnormal	Treatment for hyperlipoproteinemia type 1 is intended to control blood triglyceride levels with a very low-fat diet	-Recurrent Pancreatitis -Rarely life threatening	Good
	Type IIA
	Type IIB
	Type III
	Type IV	Autosomal Recessive & Autosomal Dominant	Normal or ↑		Prebeta-HDL ↑ & HDL-C	↑↑	Clear or Cloudy	Normal	↑	-LPL genes (Gly188Glu,Asp9Asn, Asn291Ser,Ser447Ter) -APOA5 -LMF1 -GPIHBP1	Hyperglycemia, Pancytopneia and pseudo-Niemann pick cells	-Weight reduction -Fibrates -Gene therapy	-Ischemic Heart Disea -Recurrent Pancreatitis -NIDDM -NAFLD
	Type V
Secondary Hyperlipoprotenemia	Diabetes Mellitus
	Alcohol Abuse
	Estrogen Therapy
	Glucocorticoid therapy
	Renal Disease
	Obesity
	High-fat diet
	Poor physical activity
	Paraproteinemic disorders
	Hypothyroidism

Diagnostic Approach

Hyperlipidemia

Triglycerides > 75th Percentile

NO

Type IIa

YES

Types I, IIb, IV, V

Total Cholesterol/Apo B ratio ≥ 6.2

NO

Types IIb, IV

YES

Types I, III, V

Triglycerides/Apo B ratio < 10.0

NO

Types I, V

YES

Type III