Familial hypertriglyceridaemia

Familial hypertriglyceridaemia is a common condition passed down through families which causes a higher than normal level of triglycerides.

What causes familial hypertriglyceridaemia?

It is caused by the over production by the liver and decreased removal of very low-density lipoproteins (VLDL) particles. The VLDL particle is an important lipoprotein which carries the triglycerides we make in our liver and takes them to areas of our body which need energy, usually between meals. Familial hypertriglyceridaemia does not usually cause an increase in other blood fats such as cholesterol levels unless the condition worsens causing a delay in removal in all blood fats.

Familial hypertriglyceridaemia is caused by a genetic defect passed in an autosomal dominant fashion (this means that if you inherit a copy from one parent you will have the condition). It does not usually appear until puberty or early adulthood and risk factors such as obesity, high blood glucose levels and high levels of insulin are also often present which can worsen the condition by increasing the production of the VLDL particles. This can be further worsened by factors such as diets high in saturated fat and carbohydrate, specifically added sugars, excessive alcohol and progression to type 2 diabetes.

Diagnosis

If there is a family history of hypertriglyceridaemia, (high triglycerides) then you should have blood tests to check your triglyceride levels. Blood tests showing mild to moderate increase in triglycerides (about 2.2 – 5.6mmol/L) even after a fast of 12 to 14 hours, with relatively normal cholesterol, are highly suggestive of this condition.

In familial hypertriglyceridemia, patients are usually asymptomatic, but may have an increased risk of progression to type 2 diabetes and cardiovascular disease.