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INHERITED MONOGENIC DISEASES

           

Familial hypercholesterolemia

Familial hypercholesterolemia (FH) is an inherited condition that is characterized from birth by very high levels of cholesterol in the blood, principally the cholesterol transported by low-density lipoproteins (c-LDL).

It is a very common condition and it is estimated that 1 in every 400 persons in the general population have it. In Spain, there are about 100,000 persons with FH.

The importance of an early diagnosis stems from the elevated risk of having a heart attack or other atherosclerotic cardiovascular diseases early in life. Cardiovascular disease affects more than 50% of the FH patients before they reach 55 years of age.

GENE OR REGION STUDIED


  • APOB
  • LDLR

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