What does it mean to have familial hypercholesterolemia?

What does it mean to have familial hypercholesterolemia?

Familial hypercholesterolemia is an inherited condition that causes high levels of LDL (low density lipoprotein) cholesterol beginning at birth, and heart attacks at an early age. Cholesterol is a fat-like substance that is found in the cells of the body.

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.

What is the purpose of a hypercholesterolemia registry?

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Familial hypercholesterolemia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.

What is a corneal arcus in familial hypercholesterolemia?

Heterozygous Familial Hypercholesterolemia. Corneal arcus is a white, grey or blue opaque ring around the edge of the cornea in the eye, often seen in patients with FH. Since corneal arcus is common in African Americans with normal cholesterol levels and becomes increasingly common in the general population with age,…

When does familial hypercholesterolemia cause chest pain?

If angina (chest pain) is present, it may be sign that heart disease is present. Individuals who have homozygous familial hypercholesterolemia develop xanthomas beneath the skin over their elbows, knees and buttocks as well as in the tendons at a very early age, sometime in infancy.

What kind of health problems do people with hypercholesterolemia have?

People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin).