What are the symptoms of familial hypercholesterolemia?

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.

How is heterozygous familial hypercholesterolemia ( hefh ) treated in Spain?

By contrast, in the Spanish Familial Hypercholesterolemia Cohort study, xanthomas and corneal arcus were present in <15% and 30% of patients with heterozygous FH (HeFH), respectively. 4 However, the prevalence of these findings increases with age in untreated individuals.

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.

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]

How is familial hypercholesterolemia related to recessive inheritance?

When familial hypercholesterolemia is caused by mutations in the LDLRAP1 gene, the condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results from two altered copies of the gene in each cell.

What foods are good for familial hypercholesterolemia?

Good sources include oats, peas, beans, apples, citrus fruits and carrots. Increasing physical activity. Maintaining a healthy body weight. With familial hypercholesterolemia, your doctor likely will also recommend that you take medication to help lower your LDL cholesterol levels.

How does autosomal dominant inheritance work in familial hypercholesterolemia?

Familial hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder.

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