This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Genetic lipoprotein disorders

Authoring team

Features of Major Genetic Lipoprotein Disorders

Disorder

Principle plasma abnormality

[corresponding Fredrickson classification**]

Clinical Features

Estimated Frequency

Heterozygous familial hypercholesterolemia

TC>7.5,LDL>5.0,TG<2.3

+LDL only (inherited abnormality of the LDL receptor) [IIa]

  • tendinous xanthomas
  • corneal arcus
  • premature CAD
  • family history of hypercholesterolemia
  • 0.2% of general population
  • 5% of MI survivors <60 yr old
  • Autosomal codominant

Familial defective apolipoprotein B

+LDL (inherited abnormality of apoprotein B interferes with binding to LDL receptor) [IIa]

same clinical features as heterozygous familial hypercholesterolemia

same frequency as heterozygous familial hypercholesterolemia

Familial combined hyperlipidemia

TC>7.0,LDL>4.0,HDL<1.0,TG>3.5

  • 1/3: LDL only [IIa]
  • 1/3: VLDL only [IV]
  • 1/3: LDL and VLDL [IIb]

Apo-B overproduction is common

  • usually >30 yr old
  • often overweight
  • usually no xanthomas
  • premature CAD
  • different generations have different lipoprotein abnormalities
  • 0.5% of general population
  • 15% of MI survivors <60 yr old
  • autosomal dominant

Polygenic hypercholesterolemia

TC>6.5,LDL>4.0,TG<2.3

+LDL [IIa]

  • premature CAD
  • no xanthomas
  • possible family history of hypercholesterolemia
  • unknown

Familial hypertriglyceridemia (2.3-10 mmol/L)

+VLDL only (high VLDL production, decreased lipoprotein lipase activity) [IV]

  • often overweight
  • >30 yr old
  • often diabetic
  • hyperuriaemic
  • may or may not have premature CAD
  • determined by family history and HDL-C
  • 1% of general population
  • 5% of MI survivors <60 yr old
  • autosomal dominant

Severe hypertriglyceridemia ( TG >10 mmol/L))

+Chylomicrons and VLDL (high VLDL production, decreased lipoprotein lipase activity) [V]

  • usually middle-aged
  • often obese
  • often hyperuricaemic
  • usually diabetic
  • risk for recurrent pancreatitis
  • unknown

Familial hypoalpha- lipoproteinemia

reduced HDL (< 0.78 mmol/L) in males; <0.90 mmol/L) in females)

(decreased apo A-1 production)

  • premature CAD
  • 1% of general population
  • 25-30% of patients with premature CAD
  • autosomal recessive

Dysbetalipoproteinemia

(TC 9-14 mmol/L; TG 9-14 mmol/L)

+IDL, +chylomicron remnants

(defective apo E2/2) [III]

  • yellow palmar creases
  • palmar xanthomas
  • tuberoeruptive xanthomas
  • premature CAD
  • uncommon 3% of MI survivors
  • autosomal recessive

 

* CAD = coronary artery disease; HDL-C = high-density lipoprotein cholesterol; IDL = intermediate-density lipoproteins; LDL = low-density lipoproteins; MI = myocardial infarction; TC = total cholesterol; TG = triglycerides; VLDL = very low-density lipoproteins ** See Fredrickson Classification of Lipid Disorders More information.

The lipid levels in the table are a guide to the patterns of found in the dyslipidaemias. Diagnosis is made by taking into account other factors such as age, sex, ethnic origin, family history and physical findings and other laboratory tests such as apolipoproteins.

NB: 1mmol/cholesterol = 39mg/dl; 1 mmol triglyceride = 89mg/dl


Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.