Lipometabolic disorders

Hereditary or lifestyle-related

General

It is estimated that 20 % of the population have elevated lipid levels, and about 2 % have extremely elevated levels. Dyslipidemia is associated with a high risk of cardiovascular events (myocardial infarction, apoplexy) and should be taken seriously.

Some of those affected have a familial genetic dysposition. Another part of the patients “acquires” dyslipidemia in the course of life. These secondary causes of dyslipidemia include alcoholism, tobacco use, malnutrition or overeating, the use of certain medications or drugs, physical inactivity, psychosocial stress, and certain diseases.

Diseases that promote dyslipidemia include autoimmune and other inflammatory diseases, kidney disease (nephrotic syndrome), pancreatitis, diabetes mellitus types 1 and 2, certain liver diseases (hepatopathies), biliary obstruction (cholestasis), and severely elevated uric acid levels (hyperuricemia).

In case of an increased familial occurrence of high cholesterol levels and if close relatives have suffered from coronary infarctions or heart diseases at an early age or have died early from them, early screening is recommended. Hereditary hyperlipoproteinemias can be divided into HLP type 1 to HLP type 5. In HLP type 2 a, affected individuals already suffer from massive arteriosclerosis and circulatory disorders during childhood.

Diagnostics

In order to clearly classify inherited and acquired lipometabolic disorders, a comprehensive (family) medical history is required: Are familial or own atherosclerotic diseases known? In addition, values such as body mass index (BMI) and blood pressure (RR) are informative. The skin should be examined for xanthomas (fatty deposits) as well as stretch marks (striae palmaris, stripe-like atrophic skin changes). Opacity rings on the cornea may also be a warning sign. Laboratory tests should also be performed (blood draw, total cholesterol, LDL chol, HDL chol, triglycerides, and lipoprotein a). And genetics are also informative: PCSK-9 gene, Apo B, LDL receptor, and others.

The treatment of dyslipidemia includes a change in lifestyle (avoidance of alcohol, nicotine, drugs), a change in diet – often accompanied by weight reduction -, stress reduction, exercise, and the supportive use of certain dietary supplements and medications. Those affected should follow the Mediterranean diet and include plenty of vegetables, legumes, olive, rapeseed and linseed oil in their diet. Low-meat meals, occasionally with fatty sea fish (salmon or mackerel) are recommended. Sports and long walks, gymnastics and/or yoga are also very helpful. Omega-3 fatty acids (2,000–4,000 mg/d) have proven to be a good dietary supplement. Recommended medications include lipid-lowering agents (statins, fibrates, anion exchangers, bempedoic acid) and PCSK-9 inhibitors. As a “last resort”, plasmapheresis or “lipidapheresis” – regular blood washing – remains.

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