How do you diagnose familial hypercholesterolemia?

How do you diagnose familial hypercholesterolemia?

Diagnosis of familial hypercholesterolemia is based on physical examination and laboratory testing. Physical examination may find xanthomas and xanthelasmas (skin lesions caused by cholesterol rich lipoprotein deposits), and cholesterol deposits in the eye called corneal arcus.

What is the best statin for familial hypercholesterolemia?

Rosuvastatin (Crestor) Rosuvastatin has the strongest lipid-lowering potential of all the statins currently available. It is indicated for adults with primary hyperlipidemia and mixed dyslipidemia, homozygous FH, primary dysbetalipoproteinemia, and hypertriglyceridemia.

What is the most common cause of familial hypercholesterolemia?

Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor.

When should you suspect familial hypercholesterolemia?

However, the diagnosis can be suspected clinically if the patient has very high LDL-C levels (> 500 mg/dL if untreated, or > 300 mg/dL if on maximal lipid-lowering treatment) and has cholesterol deposits in the first decade of life, especially if both parents have heterozygous familial hypercholesterolemia.

What are the signs and symptoms of familial hypercholesterolemia?


  • Fatty skin deposits called xanthomas over parts of the hands, elbows, knees, ankles and around the cornea of the eye.
  • Cholesterol deposits in the eyelids (xanthelasmas)
  • Chest pain (angina) or other signs of coronary artery disease may be present at a young age.
  • Cramping of one or both calves when walking.

How do you lower familial hypercholesterolemia naturally?

For people who don’t have FH, high cholesterol is often the result of unhealthy lifestyle choices. Lowering cholesterol naturally by eating a healthy diet, exercising regularly, not smoking and limiting exposure to secondhand smoke is often the only treatment they need.

Is familial hypercholesterolemia more common in males or females?

Familial hypercholesterolemia was more prevalent in women than in men, and the prevalence was the highest in the age group 45–54 years in men and 55–64 years in women.

Can I live a normal life with FH?

FH has no cure, but it’s treatable. Life expectancy with FH is lower without treatment, but the sooner you receive a correct diagnosis and start medication, the better your outlook and life expectancy. FH is inherited from one or both of your parents and requires treatment with medication to lower your LDL cholesterol.

Is familial hypercholesterolemia serious?

Familial hypercholesterolemia (FH) is a common life-threatening genetic condition that causes high cholesterol. Untreated, FH leads to early heart attacks and heart disease.

What are the symptoms of familial hypercholesterolemia?

Symptoms. With familial hypercholesterolemia, a person’s risk of high cholesterol is higher because a defect (mutation) in a gene changes how the body processes cholesterol. This mutation prevents the body from removing low-density lipoprotein (LDL) cholesterol, the “bad” cholesterol, from the blood.

Is there a cure for familial hypercholesterolemia?

The gene that causes familial hypercholesterolemia is inherited. The condition is present from birth. Treatments including medications and healthy lifestyle behaviors can help reduce the risks. High cholesterol is a common medical condition, but it’s often the result of unhealthy lifestyle choices, and thus preventable and treatable.

Is the Nord physician guide for familial hypercholesterolemia free?

The NORD Physician Guide for Familial hypercholesterolemia was developed as a free service of the National Organization for Rare Disorders (NORD) and it’s medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.

Are there any inherited forms of hypercholesterolemia?

There are other hereditary forms of hypercholesterolemia caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. [1]