Dyslipoproteinemia occurs when the ratio of certain proteins (proteins) in the blood serum is disturbed. Both a genetic (primary) form and a secondary variant, which occurs as part of another underlying disease, exist. In the latter, treatment of the dyslipoproteinemia usually also requires therapy for the underlying disease; in many cases, adapted diet and possibly drug therapies contribute to treatment.
What is dyslipoproteinemia?
Dyslipoproteinemia is a disorder of the protein composition of the blood serum. Often, an increased concentration of proteins is responsible for this incorrect ratio – a condition known as hyperlipoproteinemia. However, dyslipoproteinemia refers to a more general condition, as the ratio of proteins in the blood serum can also be due to other disorders. Physicians distinguish between different forms of dyslipoproteinemia: primary or hereditary dyslipoproteinemia is due to genetic causes and, in turn, can also manifest itself in various sub-forms. Secondary or acquired dyslipoproteinemia, on the other hand, usually appears in association with other diseases (for example, metabolic diseases).
Causes
Primary dyslipoproteinemia is based on a genetic defect in the genome of affected individuals. Physicians therefore also refer to it as hereditary or hereditary dyslipoproteinemia. In this case, an autosomal hereditary disease is responsible for the protein ratio disorder, which parents can pass on to their children. The mode of inheritance is dominant: one affected allele is already sufficient for the disease to manifest itself in the affected person. If one parent suffers from primary dyslipoproteinemia, not all of the children necessarily have the disease as well, since humans have a double set of chromosomes and, in addition to the disease-carrying allele, a healthy variant of the gene can also occur in the chromosome set. In contrast to the primary form of the disease, secondary dyslipoproteinemia is usually caused by another underlying disease. Physicians therefore sometimes refer to it as acquired dyslipoproteinemia. A typical underlying disease is diabetes, for example. This is a metabolic disease characterized by a disturbance in blood glucose regulation and may be due, among other things, to permanent malnutrition.
Symptoms, complaints and signs
Dyslipoproteinemia does not always manifest itself in specific symptoms; in some circumstances, it is virtually asymptomatic, but it can still lead to physical impairment without being noticed. Primary genetic dyslipoproteinemia in some cases leads to the development of xanthomas in the skin, which have an orange-yellow coloration and may appear as small nodules on various parts of the body. If dyslipoproteinemia is not treated, for example because it is asymptomatic and therefore left untreated, cardiovascular diseases, among others, may result. In addition, especially in the long term, dyslipoproteinemia may result in various other diseases, for example, arteriosclerosis.
Diagnosis
To diagnose dyslipoproteinemia and other lipid disorders, physicians may order a blood test. This involves measurement of various blood lipid values in the laboratory, including detection of cholesterol levels; significant deviations in certain measurement ranges provide evidence of dyslipoproteinemia or other medical conditions. They may be noticed during routine examinations, during examinations in the context of an underlying disease such as diabetes, or if symptoms suggest the suspicion of dyslipoproteinemia. The course of dyslipoproteinemia depends largely on early detection. If left untreated, the disease can lead to various complications, but with timely diagnosis, patients can often control dyslipoproteinemia well.
Complications
Various complications can occur with dyslipoproteinemia, depending primarily on the underlying disease. In most cases, treatment by medication or by a strict diet is possible and leads to a positive course of the disease without limiting life expectancy. Symptoms do not occur in all patients. For this reason, dyslipoproteinemia is often diagnosed too late.Only in rare cases do affected individuals suffer from yellowish skin and nodules. These nodules can occur in different places and are often not directly associated with dyslipoproteinemia. In the worst case, the disease can also cause problems with the cardiovascular system, which can lead to a heart attack or arteriosclerosis. The symptoms of dyslipoproteinemia can be limited by a change in diet and a general healthy lifestyle. Patients may also need to reduce their excess weight to reduce and prevent cardiac symptoms. In some cases, treatment with the help of medications may also take place. There are usually no further physical limitations or complications.
When should you see a doctor?
If orange-yellowish xanthomas repeatedly form on the skin, this indicates dyslipoproteinemia. Medical treatment is necessary if the fatty deposits appear on various parts of the body and do not disappear on their own after a few days. If cardiovascular disease subsequently becomes apparent, a physician must be consulted. If there are signs of arteriosclerosis, the dyslipoproteinemia may already be far advanced – in this case, go to a general practitioner immediately and have the cause of the symptoms clarified. In the event of a heart attack, the emergency physician must be called. People who already suffer from a serious disease such as diabetes are particularly at risk of developing dyslipoproteinemia. Serious consequences, such as a heart attack, mainly affect people who are overweight and those who generally lead an unhealthy lifestyle. Anyone with these risk factors should talk to their family doctor immediately if they show signs of dyslipoproteinemia. Other contacts are the specialist in hematology or – in case of medical emergencies – the medical emergency service.
Treatment and therapy
Treatment of dyslipoproteinemia depends on the particular triggering conditions and individual disease factors. Physicians cannot treat primary dyslipoproteinemia causally because it results from a genetic defect. In many cases, however, patients can at least partially control the disease through a special diet and in this way also reduce the risk of secondary diseases and complications. Patients should not only eat a calorie-conscious diet, but also pay attention to foods and preparations that are low in fat and cholesterol. Doctors also frequently recommend that patients reduce any excess weight they may have. An active lifestyle and avoidance of tobacco, alcohol and similar substances can also have a positive effect on the development of dyslipoproteinemia. In addition, various drugs can participate in the therapy of dyslipoproteinemia, which belong to the group of cholesterol synthesis inhibitors (CSE inhibitors). Cholesterol uptake inhibitors, nicotinic acid, bile acid complexing agents, fibrates and others may also be considered. However, only the treating physician can decide which treatment is appropriate. The various measures aim to rebalance the disturbed composition of the blood serum; lowering blood lipids may contribute to this.
Outlook and prognosis
Dyslipoproteinemia is a disease that is not considered curable. Both the acquired and genetic forms of dyslipoproteinemia can be treated symptomatically, but complete recovery does not occur with current medical options. The patient can contribute a lot to his health by a special diet. A diet particularly rich in protein as well as low in calories leads to the alleviation of the existing symptoms. The nutritional plan is normally worked out with the patient and specifically adapted to the needs of the organism. Depending on the intensity of the symptoms, the change in diet is sufficient for some patients in the long term to achieve an improvement in their well-being. Further medical treatment is not necessary for them. In most cases, however, long-term drug treatment is prescribed in addition. This ensures that imbalances are quickly corrected and no further complaints occur. The prognosis worsens as soon as the patient also suffers from a chronic disease. In the case of diabetes, for example, the stage of the underlying disease is decisive for the further course of the disease.With a disciplined approach to medical guidelines and a healthy lifestyle, a good quality of life can be maintained over a long period of time. However, if the progression of the disease cannot be contained, the patient is at risk of a premature death. Additional cardiovascular disease is also unfavorable.
Prevention
Prevention of dyslipoproteinemia is particularly important for individuals who are at increased risk for developing the secondary form. This includes, for example, people who suffer from diabetes. Effective treatment of the underlying disease is essential to avoid secondary diseases and complications, which include dyslipoproteinemia. In particular, the conscientious intake of necessary medication and the implementation of dietary recommendations play an important role. A healthy and balanced diet and sufficient exercise can contribute to the prevention of dyslipoproteinemia. In addition, abstaining from alcohol and tobacco seem to have a positive effect on reducing the risk of disease.
Follow-up
Because dyslipoproteinemia is a serious and severe disease, it must be treated primarily by a physician. As a rule, this also cannot result in self-healing, so the focus in this disease is definitely on early diagnosis with subsequent treatment. Whether dyslipoproteinemia reduces the life expectancy of the affected person cannot generally be predicted. In the case of a desire to have children, genetic counseling can also be performed for this disease to potentially prevent inheritance of the disease to descendants. In any case, those affected with dyslipoproteinemia are dependent on a healthy lifestyle with a healthy diet. As a rule, alcohol and smoking should be avoided. Sporting activities have a positive effect on the further course of dyslipoproteinemia. In many cases, however, those affected are also dependent on taking medication. It is important to ensure that the correct dosage is taken and that the medication is taken regularly. Furthermore, blood values should be examined regularly by a physician in order to detect possible deviations at an early stage.
What you can do yourself
Dyslipoproteinemia can be genetic or the result of another underlying disease. The disease is not always accompanied by noticeable side effects, but if left untreated, it can lead to serious complications in the long term, particularly cardiovascular disorders or arteriosclerosis. Those affected should therefore take adequate countermeasures promptly in any case. Genetic dyslipoproteinemia cannot be treated causally. However, irrespective of the cause of the disease, patients can make a significant contribution to improving their state of health by adopting a healthy lifestyle, in particular by following a specific diet. The most important step towards self-help is the development and implementation of a diet plan tailored to the requirements of the disease. Above all, a diet low in fats and cholesterol is important. Fatty foods, foods with high cholesterol content such as meat and sausages, butter, cream, but also most sweet and snack foods must be consistently avoided. Instead, whole-grain products and plenty of fresh fruit and vegetables should be eaten. Low-fat methods such as water cooking or steaming should also be preferred when preparing food. Patients should always seek advice from an ecotrophologist and have a diet plan drawn up. Overweight patients are also well advised to start a reduction diet as soon as possible. Here, too, a nutritionist can provide competent support.
