Ventrilia: Familial Hypercholesterolemia

Synonyms: FH
Material
Material:
Buccal swab
Untersuchungsdauer
TAT:
2-4 weeks
Contact
Methode
Method:
NGS
Overview

Familial hypercholesterolemia (FH)  is an inherited condition that is caused by mutations in one or more genes and results in high levels of cholesterol in the blood, even from a young age. FH has a prevalence of approximately 1 in 250 people worldwide, making it one of the most common life-threatening hereditary conditions, yet it is greatly under-diagnosed. Undiagnosed FH significantly increases the risk of atherosclerosis, which might lead to vascular conditions, such as coronary artery disease, heart attack or stroke.

Unlike common high blood cholesterol, FH has no cure and cannot be treated only through a healthier diet and lifestyle. The key to a longer and healthier life of people affected with FH is early identification of the disease so that prompt and intensive treatment through medication can begin and prevent any associated cardiovascular complications.

Ventrilia: Familial Hypercholesterolemia
11 Gene(s)*
ABCA1
ABCG5
ABCG8
APOA5
APOB
APOE
LDLR
LDLRAP1
LIPA
LPL
PCSK9


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