What are symptoms of familial hypercholesterolemia?

What are symptoms of familial hypercholesterolemia?

Symptoms

• 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.

What is familial hypercholesterolemia caused by?

Familial hypercholesterolemia (FH) can be caused by inherited changes (mutations) in the LDLR, APOB, and PCSK9 genes, which affect how your body regulates and removes cholesterol from your blood. About 60-80% of people with FH have a mutation found in one of these three genes.

Do statins work for familial hypercholesterolemia?

The most common treatment for FH is statin drug therapy. Statin drugs work by blocking an enzyme that produces cholesterol in the liver and increases your body’s ability to remove cholesterol from the blood. They can lower your LDL cholesterol levels by 50 percent or more.

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.

Can you live a long 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.

What do you do if you have familial hypercholesterolemia?

How do you beat hereditary high cholesterol?

FH can be easily and effectively treated with a cholesterol-lowering statin. Usually, a high-intensity statin such as atorvastatin or rosuvastatin is needed to bring it down. Sometimes a different cholesterol-lowering drug called ezetimibe is given as well as a statin.

What is familial amyloidosis?

Familial amyloidosis is an inherited condition that can affect multiple organs throughout the body and sometimes lead to organ failure. It is caused by an abnormal protein called amyloid. Over 100 different mutations of the amyloid protein are associated with this condition.

What is familial hypercholesterolemia?

Familial hypercholesterolemia (FH) is a genetic disorder that affects about 1 in 250 people and increases the likelihood of having coronary heart disease at a younger age. People with FH have increased blood levels of low-density lipoprotein (LDL) cholesterol, sometimes called “bad cholesterol.”

What is the pathophysiology of hereditary amyloidosis?

Hereditary amyloidosis is characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system.

What is familial transthyretin amyloidosis (FTA)?

Familial transthyretin amyloidosis (FTA) is caused by changes (mutations) in the TTR gene. This gene is responsible for making a protein called transthyretin which transports vitamin A and a hormone called thyroxin to many parts of the body. Mutations in TTR lead to a transthyretin protein that is not made correctly.