Patients with dysproteinemia suffer from a congenital or acquired imbalance of blood proteins. Because these proteins are produced in the liver, liver damage is behind the phenomenon in many cases. Treatment depends on the primary cause.
What is dysproteinemia?
The Greek prefix “dys-” literally means “disorder” or “malfunction.” “Aemia” means “in the blood” in German. In medical terminology, the compound word dysproteinemia stands for a disorder of the blood composition. Patients with dysproteinemia have an abnormally composed protein level in their blood. The disorder results in a disproportion of plasma proteins. By plasma proteins, physicians mean the cellular elements of the blood: that is, the protein building blocks. Instead of a qualitative imbalance, in dysproteinemia there is a quantitative imbalance. The disorder mainly refers to the so-called albumins and globulins. Globulins are storage proteins. Albumin is the only blood protein not included in globulins, but like globulins it is a globular protein. Dysproteinemia can occur in congenital or acquired form. The phenomenon is usually the symptom of an overarching disease and tends not to correspond to an isolated phenomenon.
Causes
The most common cause of dysproteinemia is within the context of a larger syndrome. α₁-1-antitrypsin deficiency is one of the most important congenital causes. In addition, dysproteinemia occurs in the congenital form as defect dysproteinemias, analbuminemia, or atransferrinemia. Most congenital mismatches are due to genetic mutations, which are often hereditary. Causes of acquired dysproteinemias can be a wide variety of diseases. Many of them affect the main site of blood protein formation: the liver. In addition to causative liver diseases, so-called paraneoplastic syndromes can also provide the larger framework for dysproteinemia. In addition, different types of inflammation can result in a disproportion of blood proteins. The immune system is the primary trigger in this regard. Acquired dysproteinemias also occur with plasma protein losses in nephrotic syndrome. Antibody deficiency syndrome can also be manifested by blood protein imbalance. The mentioned diseases are only to be understood as examples. Overall, the phenomenon may be symptomatic of numerous other diseases.
Symptoms, complaints, and signs
Symptoms of patients with dysproteinemia differ depending on the primary cause. For example, the congenital form most commonly underlies a metabolic α₁-1-antitrypsin deficiency. In most patients with this metabolic disorder, chronic active hepatitis is present. This hepatitis can cause pain and results in extreme liver dysfunction, which eventually causes dysproteinemia. Patients with congenital atransferrinemia, on the other hand, suffer from iron deposition in various organs. Depending on which organs are affected, organ-specific dysfunctions develop in addition to dysproteinemia, such as renal insufficiency. If the blood protein imbalance is present in the acquired form within the larger framework of a paraneoplastic syndrome, hormonally active tumors are the leading symptom. By secreting hormones, these tumors simulate an endocrinologic disorder that can cause symptoms of various organs.
Diagnosis
The diagnosis of dysproteinemia is made by serum electrophoresis. In this procedure, blood proteins are separated and then quantitated. Normally, the primary cause of dysproteinemia is diagnosed well before the symptom itself is brought to diagnosis. Only in rare individual cases is the diagnosis of dysproteinemia followed by fine diagnosis and investigation of the cause of the imbalance. The prognosis for patients with dysproteinemia depends on the primary cause. For example, patients with liver cirrhosis have a more unfavorable prognosis.
Complications
The complications and symptoms of dysproteinemia depend largely on the cause of the symptom. However, there is usually damage to the liver, which can have varying degrees of impact on the patient’s health.Most of those affected suffer from a metabolic disorder. This can manifest itself in the form of abdominal pain, diarrhea or flatulence. This often develops into an inflammation in the liver. Due to the liver complaints, iron deposits occur in various organs, which can ultimately lead to kidney damage. In the case of renal insufficiency, dialysis is then necessary to keep the patient alive. In the worst case, this can lead to the development of cancer. Treatment here is causal and is aimed primarily at the underlying disease. In many cases, the affected person must avoid certain foods in order not to continue to whitewash the liver. Severe cases require surgical intervention. If tumors occur due to dysproteinemia, they are likewise surgically removed or treated with the help of chemotherapy. Various complications may occur. If necessary, complete treatment of dysproteinemia is not possible, resulting in a shortened life expectancy.
When should you see a doctor?
If there is liver inflammation and symptoms of renal failure, dysproteinemia may be underlying. A visit to the doctor is recommended if symptoms persist longer than usual or increase in intensity as they progress. In the event of complications, emergency medical assistance should always be requested. Depending on how early the disease is detected, the affected person may subsequently have to spend several days to weeks in hospital. By regular consultation with the responsible physician, the appropriate treatment can be initiated quickly in case of acute symptoms. Acquired dysproteinemias occur in particular in connection with liver diseases and so-called paraneoplastic syndromes. Inflammations as well as diseases such as nephrotic syndrome or antibody deficiency syndrome can also lead to a disproportion of blood proteins. Anyone with these risk factors should consult a physician if they experience the typical symptoms of dysproteinemia. For further examinations, depending on the symptoms, the hepatologist, the nephrologist or a specialist in internal medicine can be consulted. In addition, a nutritionist should be consulted to help with dietary changes.
Treatment and therapy
As far as possible, dysproteinemia involves causative treatment of the primary disease. Symptomatic therapy would only attempt to compensate for the imbalance, not eliminate the cause, and thus would not achieve a true cure. In the case of liver cirrhosis or other diseases with severe damage to the liver tissue, standard therapy primarily embraces supportive steps designed to prevent progression of the disease. Patients must henceforth avoid all foods and consumer products that are toxic to the liver or otherwise stress the liver. For patients with cirrhosis of the liver, a causal cure is only possible through organ transplantation. Liver transplantation is also the final therapeutic option for patients with congenital dysproteinemia associated with alpha-1 antitrypsin deficiency. Nonetheless, these patients initially receive substitutions of the deficiency substance to control sequelae. Patients with paraneoplastic syndrome are treated invasively. During surgery, the hormone-producing tumor is removed as completely as possible. Depending on the degree of malignancy, additional radiation or chemotherapy is given. For the symptomatic treatment of dysproteinemia, immunoelectrophoresis has been available for some time. In this procedure, excess blood cells are removed from the patient’s blood. The “cleaned” blood is returned to the patients similar to dialysis. The procedure is not suitable for dysproteinemias of any cause. Only when the disproportion is in the majority of certain blood proteins can immunoelectrophoresis be used for symptomatic treatment.
Prospect and prognosis
The prognosis of dysproteinemia depends on the underlying cause and severity of the disease. If no liver damage has occurred, there is a good chance of recovery. The imbalance of the protein balance is treated and therapized. If the underlying disease can be cured, the protein concentration is then in natural balance. In this case, the dysproteinemia is also considered cured. If tissue damage to the liver has already occurred, the prognosis changes.The liver damage is irreparable and cannot be regenerated. In severe cases, organ failure is imminent. This results in a life-threatening condition for the patient. If the patient suffers from a tumor, the prognosis is equally unfavorable. Surgical intervention and subsequent cancer therapy are performed. The chances of recovery depend on the size of the tumor and the success of the therapy after tumor removal. In most cases, secondary damage remains, but the patient’s life can be saved. If the patient has too many blood cells in his organism, the blood is cleaned. Over it a healing of the dysproteinemia takes place. In the course of life, the blood may need to be purified again, because in this procedure temporary relief of symptoms is achieved, not a cure.
Prevention
Dysproteinemia can be the symptom of quite a few diseases. Those who want to prevent the disproportion of blood proteins would thus have to prevent a variety of different diseases. Since many of them are genetically determined, there are no one hundred percent successful preventive measures available. In principle, it is advisable to handle liver-toxic substances with caution. Abstaining from alcohol can be broadly interpreted as one of dozens of prevention steps in the context of dysproteinemia.
Follow-up
In most cases of dysproteinemia, there are no follow-up measures or options available to the affected individual. Therefore, first and foremost, a comprehensive diagnosis and examination should be performed for this disease to prevent further complications and also to prevent further worsening of the symptoms. The earlier the dysproteinemia is detected, the better the further course of this disease usually is. If the disease is treated correctly and, above all, at an early stage, the life expectancy of the person affected is not reduced. The treatment of this disease always depends on the underlying disease, so that it should be treated and further avoided if possible. The further course of dysproteinemia also depends very much on the underlying disease, so that no general prediction can be made about it. If a tumor is responsible for the dysproteinemia, regular examinations are also recommended after removal in order to detect other tumors at an early stage. The support and care of family or friends also has a very positive effect on the course of the disease and can prevent psychological upsets in particular.
What you can do yourself
In dysproteinemia, the physiological, i.e. normal, composition of the protein bodies in the blood is disturbed. The causes are quite different and therefore dysproteinemia is only a symptom of quite different disease processes. Therefore, if you wanted to prevent the disproportion of a defective composition of blood proteins, you would have to prevent a whole range of different diseases. This is not feasible in everyday life, especially since many of the dysproteinemias known today are clearly genetic. However, anyone who knows that they suffer from one of the various forms of dysproteinemia should do everything they can to prevent the disease from worsening. In everyday life, this means in particular always handling with care and consideration all substances and materials that are toxic to the liver. In certain professions, handling paints, varnishes or solvents should therefore be avoided at all costs. However, the most important avoidable liver-toxic substance in everyday life is alcohol. In terms of self-help in the presence of dysproteinemia, total abstinence from alcohol should be maintained in the best case. This is because even the consumption of the smallest amounts of alcohol has a much stronger toxic effect in patients with dysproteinemia than in metabolically healthy individuals.
