Familial combined hyperlipidemia — also known as mixed hyperlipidemia — is a genetic disorder that may pass from parents to children. It involves high fat or lipid levels in the body.
A person with mixed hyperlipidemia has higher-than-average levels of lipids in their body. Lipids include cholesterol and fats called triglycerides, which store energy.
People with familial combined hyperlipidemia have a higher risk of developing plaque in their arteries. A plaque buildup can lead to cardiovascular events, including heart attack and stroke.
Hyperlipidemia is the term for a range of disorders that cause elevated lipid levels.
Primary hyperlipidemia is a specific disorder that can pass from parents to children. Mixed hyperlipidemia is a type of primary hyperlipidemia.
Lipids are substances that do not dissolve in water but are soluble in organic solvents. Cholesterol and triglycerides are two of the types of lipids that people most commonly discuss with regards to cardiovascular health.
Elevated levels of these two lipids
An estimated
The exact cause of familial combined hyperlipidemia is unknown, as scientists have not yet identified the gene responsible.
However, they
Mixed hyperlipidemia is an inherited disorder. However, there is no guarantee that the condition will occur just because a person’s parents have the disorder.
When both parents have the disorder, a child can get what some refer to as a “double dose.” When this occurs, they have a higher risk of developing coronary issues earlier in life.
However, more recent research suggests that the pattern of inheritance is more complex than this. Environmental factors may also contribute to a person’s risk.
Doctors may suspect mixed hyperlipidemia if blood tests reveal high levels of cholesterol. They will ask a person about their medical and family history. If their family history reveals the disorder in at least one parent, the person may have mixed hyperlipidemia.
One
- low-density lipoprotein (LDL) cholesterol
- high-density lipoprotein (HDL) cholesterol
- triglycerides
- total cholesterol
Before the blood draw, a person will need to avoid eating for 9 to 12 hours. However, non-fasting lipid profile tests, which would not require any restriction on eating, are also acceptable and may be more convenient.
The
Diagnosing mixed hyperlipidemia in children is complex due to
However, some research indicates that the diagnosis of hyperapolipoprotein B (hyperapo B) — an elevated level of a specific type of LDL — in children might be a good marker for diagnosing mixed hyperlipidemia in later life.
The American Academy of Pediatrics recommends screening for children ages 9 to 11, and again when they are 17 to 21.
There is currently no cure for mixed hyperlipidemia. Instead, treatment is
In some cases, a doctor may recommend lifestyle and habit changes as a first-line treatment. Lifestyle changes to manage cholesterol levels
- quitting smoking
- eating a heart-healthy diet with whole grains, fruits, vegetables, and lean proteins
- maintaining or achieving a moderate weight
- exercising regularly
If these changes are not effective enough, a doctor may prescribe medications to help lower lipid levels. The
- statins, although these are not safe for people with liver concerns
- ezetimibe (Zetia), which blocks the absorption of cholesterol
- PCSK9 inhibitors, which lower LDL cholesterol
- bile acid sequestrants, which help the body get rid of cholesterol
- adenosine triphosphate-citrate lyase (ACL) inhibitors, which block cholesterol production
- fibrates, which lower triglycerides
People of childbearing age who plan to get pregnant should explain their circumstances to their doctor, as some cholesterol medications, such as statins, are unsafe during pregnancy.
The Social Security Administration (SSA) does not consider mixed hyperlipidemia a disability. However, it can coexist with or lead to conditions that may qualify. These conditions include:
- kidney problems
- heart disease
- stroke
- diabetes
The
People should make the doctor aware of any known risk factors for heart attack or stroke, such as:
- family history
- stress
- physical inactivity
- smoking
People should also talk with a doctor if they develop symptoms or issues they cannot explain. The doctor can help determine what may be causing them.
Anyone who suspects that they are experiencing a heart attack or stroke should call 911 or seek emergency medical help.
The symptoms of a stroke can include:
- slurred speech
- numbness in the leg, arm, or face, usually on one side of the body
- vision problems in one eye
- confusion
- a severe headache with no apparent cause
- issues with movement or coordination
The symptoms of a heart attack can include:
- discomfort in one or both shoulders
- chest pain
- pain in the neck, jaw, or back
- shortness of breath
Various factors can affect the outlook for people with hyperlipidemia, including:
- the person’s age
- how closely they stick to their treatment plan
- how well their cholesterol levels respond to treatment
Treatment will likely have the highest chance of success if a person follows the plan as closely as possible. They can also maximize their likelihood of a good outcome by:
- eating a nutritious, well-balanced diet
- engaging in regular exercise
- reaching or maintaining a moderate weight
- quitting smoking, if applicable
These changes can help people reduce their risk of cardiovascular disease and live longer, healthier lives.
Mixed hyperlipidemia is a congenital disorder in which a person has naturally higher levels of cholesterol and fat in their body. Without proper treatment, it can increase a person’s risk of complications, such as cardiovascular disease.
The treatment often involves a combination of lifestyle changes, such as diet and exercise, to help lower cholesterol levels. In some cases, medication may be necessary.