Familial Hypertryglyceridaemia

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Familial Hypertriglyceridemia is caused by the overproduction and decreased removal of very low-density lipoproteins (VLDL) particles by the liver. As a result, the levels of triglycerides (a type of fat) are elevated in the blood. The VLDL particle is an important lipoprotein responsible for carrying the triglycerides we make in our liver and taking them to areas of the body that need energy, usually in between meals.  

Familial Hypertriglyceridemia is a rare inherited condition. It occurs in roughly 1% of the population.  

Patients with familial hypertriglyceridemia are usually asymptomatic (showing no symptoms), however, they may have an increased risk of progressing to type two diabetes and cardiovascular disease. Possible complications of the disorder can lead to pancreatitis or coronary artery disease.  

 This condition is not usually noticeable until puberty or early adulthood. Risk factors including obesity, high blood glucose levels and high levels of insulin commonly occur in these patients and can worsen the condition by increasing the amount of VLDL particles being produced. This can be worsened even more by diets high in saturated fat and carbohydrates, added sugars and excessive alcohol.  

A diagnosis for this condition usually starts with a physical exam, a full family history and questions about symptoms.  

 Specialised blood tests can be done to check levels of VLDL and triglycerides. If you have a family history of this condition you should have blood tests done to check these levels.  

 A coronary risk profile may also be done.  

The aim of treatment for this condition is to control conditions that can raise triglyceride levels such as obesity, hypothyroidism (low thyroid) and diabetes.  

Patients may be advised not to drink alcohol. Certain birth control pills can also raise triglyceride levels. Talk to your doctor to discuss your risks.  

Treatment also includes a restricted diet, avoiding excess calories and foods high in saturated fats and carbohydrates.  

In the case of triglyceride levels staying high even after making diet changes, medication (such as nicotinic acid) to lower triglyceride levels may be required.  

Familial hypertriglyceridemia is an inherited condition. Humans have chromosomes made up of DNA. Genes are pieces of DNA that carry the genetic information. Each chromosome may have several thousand genes. We inherit chromosomes from the egg of the mother and sperm of the father. The genes on those chromosomes carry the instructions that determine a person’s characteristics, which are a combination of the parents.  

 The pattern of inheritance of familial hypertriglyceridemia is autosomal dominant. This means that one copy of the altered gene in each cell is enough to cause the disorder. Cases can occur in people with no known family history of the disorder as it can result from a new mutation in the gene. Spontaneous mutations happen during the formation of an egg or sperm cell or during the development of the embryo.  

 A person affected by an autosomal dominant disorder such as familial hypertriglyceridemia has a 50% chance of passing the mutated gene to each child. There is also a 50% chance that the child will not inherit the mutated gene.  

Genetic counselling can be requested to get a full explanation. 

If there is a family history of hypertriglyceridemia (high triglycerides), you should have blood tests done to check triglyceride levels. Screening family members for high triglycerides may detect the disease early.  

References are available on request. Please contact us on 0800 652 3181 or by emailing contact@metabolicsupport.org.

Please note calls to 0800 numbers are free from UK landlines and mobiles. Calls from business lines may be charged – please check with your provider.

This information about metabolic diseases is provided by Metabolic Support UK and is intended for educational purposes only. It should not be used for diagnostic or treatment purposes.

Should you require more detailed information please contact Metabolic Support UK by email (contact@metabolicsupport.org) or by telephone ( 0800 652 3181). For specific medical information regarding a disorder or individual please contact your GP or Paediatrician. Metabolic Support UK accepts no responsibility for any errors or omissions nor does Metabolic Support UK assume any liability of any kind for the content of any information contained within this summary or any use that you may make of it.