This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Familial defective apoB -100 (apo B -100)

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

In this genetic hyperlipidaemia cholesterol levels are raised (usually cholesterol 7.5-16 mmol/L) and triglyceride levels are below 2.3 mmol/L. LDL-cholesterol is increased.

In this condition a mutation of apo B intereferes with binding of LDL. The most common cause of this condition is due to a substitution of an amino-acid at position 3500. This mutation has an incidence of approximately 1 in 600 in the general population although it generally does not produce an especially severe hyperlipidaemia.

This is an example of a type IIa hyperlipidaemia according to the Who/Fredrickson classification of primary hyperlipidaemias.

Clinical features are similar to those seen in familial hypercholesterolaemia (FH).

It has been estimated that up to 4% of patients with clinical FH may have familial defective apo B.


Related pages

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