Often the diagnosis only comes when it is too late: after a heart attack or sudden cardiac death. Doctors of the German Heart Foundation complain that the number of unreported cases of persons with the genetically inherited and life-threatening metabolic disease Familial Hypercholesterolemia (FH) is very high. According to estimates, 160,000 to 200,000 patients in Germany suffer from the metabolic disease, which is one of the most common genetic disorders. "Only a maximum of 15 percent of patients with this hereditary disease, which leads to massively elevated LDL cholesterol levels in the blood and can lead to a heart attack before reaching the age of 30, are diagnosed and treated without treatment. Unknown cases live with a 'ticking time bomb' in their blood because their coronary vessels can constrict unhindered and initially unnoticed until a heart attack," warns Prof. Dr. Frank Ulrich Beil, endocrinologist and lipid specialist at the Outpatient Centre of the University Hospital Hamburg-Eppendorf and at the Stephansplatz Hospital in Hamburg.
High LDL cholesterol levels cause Vascular changes (atherosclerosis) in the arteries of the heart and also in brain arteries with the formation of deposits in these vessels (plaques). With the help of cholesterol-lowering drugs (statins), the highly elevated LDL levels of FH can be greatly reduced. Often, however, the LDL target value of below 100 mg/dl is not reached, in which case further and newer lipid-lowering drugs are required to reduce the cardiovascular risk, as Prof. Beil explains in the new expert guidebook of the German Heart Foundation "Hohes Cholesterin: Was tun?
Warning signs of a disease only become noticeable at a late stage
If left untreated, atherosclerosis leads to Circulatory disorders in the heart muscle to complete vascular occlusion: heart attack. The treacherous thing about UAS is that the enormously high LDL cholesterol levels can already have their vascular-damaging effect in childhood, but atherosclerosis usually progresses insidiously over years without symptoms (as the patient case of Annalena Wolf also shows, see box). "Therefore, families with frequent cases of elevated cholesterol levels and heart attacks must have their relatives examined for elevated cholesterol levels as early as possible, ideally when they start school," advises Prof. Beil.
FH is suspected if the LDL level in adults is above 190 mg/dl and several family members died early - before 60 years of age in women, before 55 years of age in men - from heart attacks. "A clear warning sign of Familial Hypercholesterolaemia are yellow nodules on the Achilles tendons and finger joints called xanthomas." The diagnosis is confirmed by genetic testing, for which only 5 ml of blood (1 small blood count tube) needs to be taken from the patient. As a rule, genetic testing only needs to be carried out on one person with high cholesterol in the family, i.e. parents, siblings or the patient's own children. If both parents are affected by the genetic defect, the children can get very high cholesterol levels above 1,000 mg/dl (homozygous form) and suffer heart attacks before the age of 10. If only one parent has FH, there is a 50 percent chance that offspring will also develop the disease.
