Hyperlipoproteinemia: Causes, Symptoms & Treatment

Hyperlipoproteinemia (HLP) is characterized by elevated concentrations of cholesterol, triglycerides, and lipoproteins in the blood. The causes of hyperlipoproteinemia are diverse, and its consequences must be considered in a differentiated manner.

What is hyperlipoproteinemia?

Hyperlipoproteinemia is a lipid metabolism disorder that has either primary or secondary causes. Primary hyperlipoproteinemia is genetic, while the secondary form is always a result of unhealthy lifestyle or underlying diseases, such as diabetes. Lipoproteins are constantly present in the blood, where they perform a transport function for cholesterol and triglycerides (fats). Cholesterol, which is formed in the course of fat metabolism, assumes central functions in the organism. It is the starting material for steroid hormones, bile and is a main component of all cell membranes. Triglycerides must also be transported to their destination for energy production. Lipoproteins transport lipids either from the liver to the other organs by means of LDL (low-density lipoproteins) or vice versa from the organs and vascular system to the liver by means of HDL (higher-density lipoproteins). In hyperlipoproteinemia, the ratio of LDL to HDL is often shifted in favor of LDL. However, LDL has a great risk potential for atherosclerosis and the resulting diseases. HDL has the opposite effect. Hyperlipoproteinemias are further classified as hypercholesterolemias (elevated cholesterol levels), hypertriglyceridemias (elevated triglyceride levels), and mixed hyperlipidemias.

Causes

In its primary form, hyperlipoproteinemia is genetic. In this context, there are multiple mutation possibilities at the lipoproteins. The regulatory mechanism of the degradative and anabolic processes of cholesterol may also be disturbed. As a result, hyperlipoproteinemias of various types occur with different risks for secondary diseases. Secondarily, they usually result from a high-fat diet, lack of exercise or as a consequence of underlying diseases related to lipid metabolism, such as diabetes, obesity, liver or biliary diseases. Type 2 diabetes, for example, is characterized by the need to produce very high concentrations of insulin due to its poor effectiveness. However, since insulin also mobilizes fat, the lipid concentration in the blood increases. Fats and cholesterol belong to the lipids and are therefore always transported together by lipoproteins. Diseases that lead to disruption of fat breakdown are also causes of hyperlipoproteinemias, as are increased fat intake from food, decreased fat breakdown from lack of exercise, or increased fat release from fat cells in obesity.

Symptoms, complaints, and signs

There are different forms of hyperlipoproteinemia. They differ in terms of their symptoms. One prominent symptom that may indicate all forms of the disease is the appearance of tendinous xanthomas. These are small yellowish-white skin lesions. There are five types of primary hyperlipoproteinemia with different symptoms. Type 1 is mainly indicated by xanthomas and lipid deposits in the liver and spleen. Type 2 results in circulatory disturbances, atherosclerosis, and elevated cholesterol levels. This type of the disease is associated with an increased risk of heart attack. Type 3 also has elevated cholesterol levels and an increased risk of atherosclerosis. The most prominent symptoms of type 4 are abdominal pain in the form of upper abdominal colic, obesity, fatty liver, hyperuricemia (gout), increased risk of atherosclerosis, and frequent pancreatitis. Characteristic of type 5 is simultaneous enlargement of the spleen and liver (hepatosplenomegaly). There are also xanthomas of the skin, upper abdominal colic, obesity, and elevated cholesterol levels. In addition, there is also secondary hyperlipoproteinemia, which, in addition to tendinous xanthomas, can be indicated in a few cases by so-called xanthelasmata. These are conspicuous symmetrical yellowish-white skin changes on the eyelids and the inner corner of the eye.

Diagnosis and course

Hyperlipoproteinemia is primarily asymptomatic. However, it can be the cause of serious cardiovascular disease leading to myocardial infarction or stroke.Certain forms of hyperlipoproteinemia can form plaques in the blood vessels (arteriosclerosis), which then cause these diseases. An increased risk of arteriosclerosis is only given with increased LDL or decreased HDL. HDL transports lipids from the vascular system to the liver. In the process, it also partially dissolves cholesterol from the plaques, allowing them to shrink. LDL cholesterol, however, is transported from the liver to the organs. It is easily oxidized and, in its oxidized form, is rapidly taken up by macrophages, which then attach to the plaques as fat-laden foam cells. Hyperlipoproteinemia is diagnosed by determining blood lipid levels of total cholesterol, triglycerides, LDL cholesterol, HDL cholesterol, and lipoproteins after at least 12 hours of dietary restriction.

Complications

Hyperlipoproteinemia causes various complaints and symptoms in the patient. These complaints usually depend on the exact type of hyperlipoproteinemia. Usually, patients suffer from obesity and continue to be overweight. There is an increased risk of myocardial infarction, which usually greatly reduces the patient’s life expectancy. It is not uncommon for abdominal pain to occur. The liver can also be affected by hyperlipoproteinemia due to fatty liver. The obesity itself has a very negative effect on the general health of the patient, and in the process can lead to further pain in the joints and knees of the affected person. There are also other cardiovascular diseases caused by hyperlipoproteinemia. If a stroke occurs, it can lead to death or to severe limitations in the daily life of the affected person. In particular, paralysis occurs, which can make everyday life difficult. Treatment of hyperlipoproteinemia does not lead to further complications. In most cases, it takes place with the help of medications that limit the symptoms. However, the affected person should lead a healthy lifestyle and avoid obesity at all costs. There may be a reduction in life expectancy.

When should one go to the doctor?

When symptoms such as abdominal pain, obesity, circulatory problems, or signs of fatty liver are noticed, hyperlipoproteinemia may be underlying. A visit to the doctor is indicated if the symptoms persist for several days and severely affect well-being. If further problems become apparent, it is best to consult a doctor on the same day. The disease can be treated well if it is detected early. If it is not treated, however, serious complications and late effects can develop. Medical advice is needed at the latest when signs of arteriosclerosis or other serious diseases are noticed. The affected person should immediately consult the family doctor and arrange for further examinations. People who maintain an unhealthy lifestyle are particularly susceptible to developing hyperlipoproteinemia. Obesity, liver or bile diseases, and type 2 diabetes are also typical risk factors that need to be clarified. If the above-mentioned symptoms occur in connection with these diseases, immediate clarification by the family doctor or an internist is indicated.

Treatment and therapy

Hyperlipoproteinemia requires treatment because of its risk for the development of atherosclerosis. Primary hyperlipoproteinemias require constant drug treatment. For this purpose, so-called lipid-lowering agents are applied. Important lipid-lowering agents include CSE inhibitors, niacin and fibrates. In the secondary forms of this metabolic disorder, a change in lifestyle is often sufficient. Excess weight should be reduced by eating a low-fat, low-calorie, high-fiber diet. If there is another underlying disease, its treatment is a basic prerequisite for achieving normal blood lipid levels. Since hyperlipoproteinemia is, after all, only a symptom and not a disease in its own right, it can also only be considered in the overall complex of therapy.

Outlook and prognosis

Hyperlipoproteinemia is not cured in most cases. Nevertheless, the prognosis is tied to the underlying disease present and must be evaluated on an individual basis. In chronic disease, the presenting symptoms are treated. In diabetes, no cure is indicated, yet a good quality of life can be achieved considering various guidelines.Through the administration of medication, a regulation of the metabolism takes place, which leads to an improvement of the symptoms. In long-term therapy, therefore, successful alleviation of symptoms can be documented in a large number of patients. However, a relapse occurs immediately if the medication is discontinued or if there is no necessary control examination in which a readjustment of the active substances takes place. If hyperlipoproteinemia is triggered by severe obesity, the patient will have a good prognosis if permanent weight loss occurs. Recovery from the underlying disease is lengthy and often associated with relapse or other complications. Nevertheless, there is a prospect of improvement. In the case of a lack of exercise and a poor diet, the affected person can in some cases independently contribute to an improvement of his quality of life. If there is damage to the organs, long-term therapy is also necessary. In some cases, organ donation must be performed. If this takes place successfully, hyperlipoproteinemia is considered cured.

Prevention

The secondary forms of hyperlipoproteinemia can be well prevented. A healthy lifestyle without nicotine, a healthy diet, and adequate exercise are already sufficient for this purpose. Some pre-existing conditions of hyperlipoproteinemia can also be prevented in this way.

Follow-up

In hyperlipoproteinemia, the focus is on early detection and treatment of the disease. In this regard, a physician should be contacted at the first symptoms and complaints. The earlier the disease is detected in the process, the better the further course of hyperlipoproteinemia in most cases. Since the disease cannot heal itself, a medical examination and treatment must always take place. The disease is usually treated by taking medication. Care must be taken to ensure that the correct dosage is taken regularly so that the symptoms can be properly alleviated. In case of side effects or interactions with other medications, a doctor should always be consulted first. In general, a healthy lifestyle with a proper diet also has a positive effect on the course of the disease in hyperlipoproteinemia. Excess weight should be avoided. Regular examinations by a doctor are also very useful, especially checking the lipid levels in the blood. In some cases, hyperlipoproteinemia has another underlying disease that must be treated first and foremost. There is possibly a reduced life expectancy of the affected person due to the disease.

What you can do yourself

Dietary changes can contribute significantly to the reduction of blood lipid levels and body weight in hyperlipoproteinemia. Daily fat intake should be limited to no more than 30 percent of daily calories, including hidden fats. Vegetable oils consisting of unsaturated fatty acids are recommended for food preparation; the use of chemically hydrogenated fats is not advisable. Coldwater fish such as salmon or mackerel contain valuable omega-3 fatty acids, which can have a favorable effect on cholesterol levels. Gentle cooking methods such as steaming or stewing do not require any fat at all. About half of the daily calorie requirement should be covered by complex carbohydrates from fruit, vegetables, whole grain products, potatoes and legumes. Garlic, artichoke leaves and psyllium are said to have a cholesterol-lowering and vasoprotective effect. Plenty of exercise and a healthy lifestyle with little alcohol and as little nicotine as possible help to reduce excess weight and thus improve blood lipid levels. In addition, the risk of developing cardiovascular disease as a result of hyperlipoproteinemia is reduced. Existing underlying diseases such as diabetes mellitus must be treated and controlled as well as possible. If there is a family history of hyperlipidemia, regular monitoring of blood lipid levels is recommended in order to counteract any increase before health damage occurs. In the case of hereditary hyperlipoproteinemia, drug therapy is usually necessary in addition to a change in lifestyle.