Cardiovascular diseases are the number one cause of death in Germany. More than 350,000 people die from it every year. For comparison, the second most common cause of death, cancer, is 230,000. Because a diseased heart can go unnoticed for a long time, experts have long emphasized how essential possible early detection is.
An important step could be large-scale screening for familial hypercholesterolemia (FH).
Familial hypercholesterolemia (FH) – that’s why it’s so dangerous
FH is a congenital disorder of cholesterol metabolism. The cause is a gene mutation. FH is therefore hereditary, meaning parents can pass it on to their children. Patients with FH have few or no functional LDL receptors, which means that too much LDL cholesterol (in simple terms: fat) remains in the blood.
As a result, severe hardening of the arteries (technical term arteriosclerosis) and early heart attacks or strokes often occur at a young age. According to the German Heart Foundation, the general risk of developing cardiovascular diseases is increased five to 20 times for those affected. In the particularly severe form of homozygous hypercholesterolemia, in which the defect is inherited from both parents, those affected often die before they reach the age of 20.
FH is also severely underdiagnosed. According to experts at the German Heart Foundation, up to 270,000 people in Germany are carriers of the genetic defect. But only one in a hundred affected people is diagnosed with this.
FH often goes unnoticed for years
The problem is that elevated LDL levels often go unnoticed for years. Family history is an important indication of a FH. So if grandparents, parents or siblings have suffered a heart attack or stroke at a relatively young age or are suffering from peripheral occlusive disease (PAD), you should pay attention. The same applies if high cholesterol levels have always been measured in the family.
In the severe form of homozygous hypercholesterolemia there are visible signs. These include fatty deposits on the elbows, joints, the Achilles tendon or in the eyelid area. These appear as yellowish nodules or pads under the skin.
The good news: “Detecting the disease and treating it as early as possible enables those affected to live an almost normal life,” explain the heart experts.
This is how the therapy works
Diagnosis is based on cholesterol levels. If these are significantly increased, a molecular genetic test for FH can be carried out. If the disease is diagnosed, those affected should pay attention to the following three points:
regular check-ups: Arrange regular checks with your family doctor or cardiologist. This checks blood pressure, blood sugar, weight and cholesterol levels and, if necessary, ECGs are also carried out.
healthy lifestyle: This includes a healthy diet (preferably plant-based, with little animal fat), lots of exercise, no nicotine and no alcohol.
Medication: As a rule, medication is also necessary to permanently lower cholesterol levels; Statins are considered the most important cholesterol-lowering drugs. For children, drug treatment is recommended from the age of eight.
Always speak to a doctor about treatment options and implementation.
Children and young people should be tested – the first screenings are underway
Because children are already affected by the sometimes extremely high LDL cholesterol levels, experts recommend that the first tests be carried out in childhood. Large-scale screenings are already underway in some federal states. There, parents can have their children between the ages of five and 14 examined free of charge by a pediatrician for elevated cholesterol levels. In suspected cases, a molecular genetic test for FH is carried out and, if necessary, examinations of close relatives.
In Bavaria, as part of the Vroni study (motto: “Heart attack at 35? Without me!”), 15,000 children were screened in the past three years and more than 160 affected families were discovered. In Lower Saxony and Hamburg, as part of the Fr1dolin study (now completed), there were over 360 affected families out of 15,000 children screened. The Vroni study will start in the north in February 2024 and will then run parallel to the Vroni study in Bavaria.
The aim is for FH screening to be included in standard care in Germany in the future.
Hope: Fewer cardiovascular diseases through early detection
That would be an important step. Because: “Cardiovascular diseases are still the number one cause of death in Germany. And when it comes to life expectancy overall, we are at the bottom of the list in Western Europe,” emphasizes cardiologist Thomas Voigtländer, CEO of the German Heart Foundation. “Identifying those people who have an increased risk of heart disease and cardiac death earlier than before could take us a good step towards changing that.”
As a reminder, there are other risk factors for cardiovascular disease. The Robert Koch Institute (RKI) lists the most important factors that can be influenced as follows:
High blood pressure Diabetes mellitus (type 2 diabetes) Lipid metabolism disorders (this includes familial hypercholesterolemia) Obesity Smoking Physical inactivity Unhealthy diet
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