Hyperlipoproteinaemia Type 3

What else is it called?

  • Broad beta disease 
  • Dysbetalipoproteinemia 
  • Familial dyslipidemia type 3 
  • HLP type 3 
  • Hyperlipidemia type 3 
  • Hyperlipoproteinemia type 3 
  • Remnant hyperlipoproteinemia 
  • Remnant removal disease 

Get in touch

Contact our caring team on 08452 412 173 for help and support. Our phone lines open 10am-4pm, Monday to Friday.

Prefer to email? Our email address is contact@metabolicsupportuk.org.

What causes it?

The disorder is caused by a problem in the APOE gene. This gene produces the protein apolipoprotein E, which attaches to fats (called lipids) to create a molecule called a lipoprotein. This molecule helps to distribute fats around the body to be used as energy. 

If you have a problem in the APOE gene, you will not be able to break down fats properly into lipoproteins. Therefore, you will have a build-up of lipids in your bloodstream and this can block your blood vessels, leading to cardiovascular problems, among other health issues. 

You may inherit a mutation in the APOE gene and not have Hyperlipoproteinaemia Type 3. Other factors relating to your diet, metabolism, or hormones are believed to affect the faulty gene and lead to the development of this disorder. 

How common is it?

Hyperlipoproteinaemia Type 3 is estimated to affect around 1 person in every 5,000-10,000. 

The disorder is more likely to affect males than females, although it can be observed in both genders. Almost all females that have the disorder develop it after menopause due to the change in their hormone levels. It is very rare for the disorder to occur in childhood. 

What are the signs and symptoms?

Most cases of Hyperlipoproteinaemia Type 3 typically start showing symptoms during early adulthood. They may include: 

  • Fatty yellow bumps on the skin (xanthomas) 
  • Development of premature coronary heart disease 
  • Restricted blood flow to the legs, causing cramping and possibly a limp (claudication) 
  • Enlarged liver or spleen (hepatosplenomegaly) 

Some people present as asymptomatic, which means that they do not display any signs the disorder. 

Life expectancy for this disorder is dependent on the severity of your symptoms, and how well they are managed. People with Hyperlipoproteinaemia Type 3 are 5-10 times more likely to develop recurring blood clots, which can cause significant harm to the body, including heart attacks and strokes. These can be life threatening if not treated quickly. 

How is it diagnosed?

Hyperlipoproteinaemia Type 3 is diagnosed using a specialised blood test. To prepare for this, you may be asked to fast for around 12 hours. It is important that you follow your medical team’s instructions prior to the blood test. You may also have a genetic test to confirm your diagnosis. 

After your diagnosis, you may have a scan to check for atherosclerosis, which is a disease of the arteries. 

Some people do not have any symptoms and may only be diagnosed after a family member, such as a parent, sibling, or child, has tested positive.  

In some cases, Hyperlipoproteinaemia Type 3 may be misdiagnosed as another metabolic disorder, such as familial hypercholesterolemia or familial hypertriglyceridemia. This is because these disorders have similar symptoms and presentations.

Can it be treated?

There is no cure for Hyperlipoproteinaemia Type 3, but treatments are available to manage the condition.  

 

The most important way to stop the disorder from progressing is by leading a healthy lifestyle. This includes keeping active and eating a healthy, balanced diet that is low in saturated fats and carbohydrates. A dietician will help support you to do this. Refraining from smoking and drinking is also very important. Your medical team may also give you supplements or medication, depending on your presentation. 

These actions will lower the likelihood of your blood vessels becoming blocked, which will greatly reduce your chances of suffering from coronary heart disease, stroke, and other life-threatening conditions. 

Prognosis for Hyperlipoproteinaemia Type 3 varies from person to person. As people with the disorder are much more likely to develop blood clots than the general population, it is important to follow your medical team’s guidance to reduce your risk of serious illness. With proper management, many people with this disorder can live a normal life expectancy. 

Do my family need to be tested?

Hyperlipoproteinaemia Type 3 is an autosomal recessive disorder, which means that it is inherited from both parents, who are carriers of the disorder through their genes. 

All genes come in pairs. Carriers of Hyperlipoproteinaemia Type 3 have one working APOE gene and one faulty gene. Children inherit one gene from each parent to make their pair. Whether they have Hyperlipoproteinaemia Type 3 depends on the genes they inherit: 

  • There is a 50% chance that the child will inherit one faulty and one working gene, which means they will also be a carrier. 
  • There is a 25% chance that the child will inherit two working genes and not inherit or carry the faulty gene. 
  • There is a 25% chance that the child will inherit two faulty genes, which means they will have Hyperlipoproteinaemia Type 3.

In around 10% of cases, Hyperlipoproteinaemia Type 3 is inherited in an autosomal dominant inheritance pattern. This means that only one parent has to be affected to pass on the disorder through their genes.

In these cases, children inherit one gene from each parent to make their pair. If one parent has Hyperlipoproteinaemia Type 3: 

  • There is a 50% chance that the child will inherit one faulty and one working gene, which means they will also have Hyperlipoproteinaemia Type 3. 
  • There is a 50% chance that the child will inherit two working genes and not inherit the disorder. 

If you think somebody in your family may have Hyperlipoproteinaemia Type 3, or that you may be a carrier, contact your medical team who may refer you for genetic testing. 

 

Relevant Organisations

References

References are available on request. Please contact Helen Morris by phoning 0845 241 2173 or emailing helen@metabolicsupportuk.org [Resource Library No: HLL012].

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