Variable immunodeficiency syndrome

The variable immunodeficiency syndrome, also as Common variable immune deficiency - CVID - known to be a congenital immunodeficiency. In the context of the defect, the immunoglobulin synthesis, especially the immunoglobulin G, is extremely low.

What is the variable immunodeficiency syndrome?

CVID or that variable immunodeficiency system is a congenital disease in which those affected have very few or no antibodies. The lack of antibodies leads to an increased susceptibility to infection. Above all, those affected suffer from gastrointestinal tract complaints and infections of the airways; the triggers are bacteria.

The defect is called "variable" because the defects do not always have to occur in the same part of the immune system. For this reason, the clinical picture of CVID can vary, which on the one hand makes treatment and on the other hand makes diagnosis more difficult. In many cases, CVID only appears between the ages of 16 and 25; the disease is relatively rare, at 1: 25,000.

causes

In the context of the variable immunodeficiency syndrome, the B cells are often present, but inoperable. For this reason, no necessary number of antibodies can form to protect the body from possible infections. The patients unfortunately suffer from a (sometimes greater, sometimes less) reduction in the antibody classes IgA, IgM and IgG.

So far, the genetic causes and the reason for the defect could not be clarified. However, medical professionals are of the opinion that women and men are equally affected by the variable immunodeficiency syndrome. Familial clusters have already been observed, although doctors currently still hold the opinion that CVID is not inherited.

Symptoms, ailments & signs

The symptoms are divided into the following groups: disorders or problems with the gastrointestinal tract, infections, skin symptoms, granulomas, chronic respiratory infections, changes in the lymphatic tissue as well as tumors and autoimmune phenomena.

Infections include respiratory infections caused by bacteria (Streptococcus pneumoniae, Haemophilus influenzae, Moraxella catarrhalis), inflammation of the brain caused by the enteroviruses (encephalitis) and infections of the urinary tract (mycoplasma). Diarrhea and insufficient nutrient absorption are just as possible as chronic respiratory diseases (bronchiectasis).

As part of the changes in the lymphatic tissue, enlargement of the spleen and an enlarged liver were documented (hepato-splenomegaly). Granulomas are also symptoms and signs of CVID; those express themselves through foci of inflammation in the body, which mainly affect the organs (lungs, spleen, liver) and the bone marrow.

The physician uses the term autoimmune phenomena to refer to reactive joint inflammation as well as the immunologically induced deficiency of blood platelets; around 20 percent of all those affected complain of immune thrombocytopenia. Occasionally, immunologically induced and pernicious anemia can also occur. Further symptoms are hair loss, granulomas of the skin and also white spot disease. Tumors (thymomas, stomach cancer, malignant lymphomas) can also develop.

Diagnosis & course of disease

Due to recurring respiratory tract infections, the doctor will probably express the suspicion that it could sometimes be a variable immunodeficiency syndrome. However, a so-called incidental finding can also lead to the doctor making the diagnosis. After the suspected diagnosis, the doctor determines the immunoglobulins in the blood.

In the context of the CVID, the immunoglobulin G is always low; As a rule, the value is below 3 g / l. In many cases, however, the immunoglobulins A and M are also reduced. The antibody deficiency is the essential component and also the indication that a variable immunodeficiency syndrome is present. However, in order for the definitive diagnosis to actually be made, the physician must rule out any other diseases that can certainly cause an antibody deficiency.

These include, for example, the monoclonal reproduction of so-called immunoglobulin light chains (also known as Bence Jones myeloma). The nephrotic syndrome (loss of protein via the kidneys) and exudative enteropathy (loss of protein via the intestines) must also be completely ruled out in advance. In addition, special immunological tests are carried out; for example, the subclasses of immunoglobulin B values ​​are measured.

The prognosis and the course of the disease are relatively difficult to assess. Due to IVIG therapy, which has been offered for some time, the prognosis has improved significantly. However, over time, people suffering from variable immune deficiency syndrome develop severe diseases (such as autoimmune phenomena or tumors) that can sometimes drastically shorten life expectancy.

Complications

A variety of complications can occur in the context of the variable immunodeficiency syndrome, all of which contribute to a reduction in life expectancy. Exact statistical information is not available. However, it has been observed that regular infusion of immunoglobulins leads to an improvement in the prognosis.

The most important complications are severe bacterial inflammation of the respiratory tract, viral brain infections, diarrheal diseases caused by lamblia or infections of the lower urinary tract caused by mycoplasmas. The chronic respiratory diseases can lead to bronchiectasis, which is characterized by an irreversible expansion of the bronchi with chronic festering bacterial infections of the bronchial wall.

Tissue death (necrosis) is constantly occurring on the bronchial wall. Without adequate antibiotic treatment, these infections often lead to premature death. Further complications are caused by various autoimmune reactions of the immune system. This can lead to reactive joint inflammation, a lack of blood platelets, hemolytic anemia, pernicious anemia or a variety of sources of inflammation in the internal organs.

The lack of platelets (thrombocytopenia) inhibits blood clotting and leads to frequent bleeding. Hemolytic and pernicious anemia are characterized by severe blood deficiency, which can be attributed to increased blood breakdown or insufficient blood formation. Both thrombocytopenia and anemia can lead to death in severe cases.

The foci of inflammation in the liver, lungs, spleen or bone marrow are noticeable as granulomas. Finally, in the context of variable immunodeficiency syndrome, malignant lymphomas, thymomas or gastric cancer can develop in some cases.

When should you go to the doctor?

This disease usually always requires treatment by a doctor. Only through an early diagnosis and subsequent treatment can further complications or complaints be prevented. The person affected should therefore contact a doctor at the first signs and have an examination carried out. A doctor should be consulted if the person concerned suffers from chronic breathing difficulties. As a rule, there is a strong cough and thus a very low resilience. An enlarged liver can also indicate this disease.

Many patients also suffer from hair loss or white spots that spread over the skin all over the body. If these symptoms persist, a doctor must be consulted. Since the disease also significantly increases the likelihood of tumors, regular examinations of the internal organs should also be carried out in order to detect them at an early stage.

As a rule, the disease can be diagnosed by a general practitioner or an internist. However, further treatment depends on the exact severity of the symptoms, so that no general prediction can be made. In many cases, however, the person's life expectancy is reduced.

Therapy & Treatment

Treatment is only given if it is necessary or if the patient suffers from symptoms or if other diseases have occurred that have arisen due to the variable immunodeficiency syndrome. However, patients who are free from symptoms and complaints are not treated.

Some time ago a new method of treatment was found which is based on the subcutaneous or intravenous infusion of immunoglobulins. The doctor speaks of IVIG therapy as part of the treatment. With IVIG therapy, the doctor gives a dose of 200 to 600 mg, depending on body weight, every two to six weeks. If the doctor decides on a subcutaneous infusion, a lower dosage is used, which is administered weekly.

The goal of IVIG therapy is to keep the immunoglobulin G level above 5 g / l. If there are other diseases that are typical of the variable immune deficiency syndrome, the bacterial infections are treated with antibiotics. The dosage is higher; the intake takes much longer than in healthy people.

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prevention

Due to the fact that so far no reasons that have caused an outbreak of the immunodeficiency could be found, no preventive measures are known.

Aftercare

The variable immunodeficiency syndrome is one of the rare immunodeficiencies. It is hereditary and is caused by mutated chromosomes. The defect triggers various secondary diseases that require treatment. For this reason, follow-up care is necessary. The immune deficiency syndrome as such cannot be treated. Therefore, treatment and aftercare extends to the diseases that result from it.

The aim is, on the one hand, to heal the present disease, on the other hand, to avoid relapse and prevent further physical complaints. The focus is on the quality of life of the person affected. If the patient does not show any symptoms, neither therapy nor follow-up checks are necessary. The form of aftercare depends on the disease in the affected organs. The patient is treated with appropriate medication, tolerance and healing are checked as part of the aftercare.

Aftercare ends with the successful elimination of the symptoms. Particular caution is required when giving antibiotics, as they must not be taken over a certain period of time. If the immunodeficiency syndrome is a significant emotional burden for the person affected, psychotherapy is recommended in addition to medical care. Depression or affective disorders must be prevented, the patient's quality of life should be maintained despite the chronic hereditary disease.

You can do that yourself

Due to the weakening of the immune system, especially against viral and bacterial infections, the immunodeficiency syndrome is always a challenge in the life of the patient. The gamma globulins of those affected make up the majority of all antibodies in the blood plasma. These are each aimed at a very specific pathogen, by which the immune system has already been attacked and shows the appropriate immune response via the immunoglobulins M. The adaptation of everyday behavior and effective self-help measures require that the causative factors of this disease are already known. The disease can be genetically caused or triggered by certain circumstances such as severe protein deficiency or chemotherapy.

If the disease is caused by genetic factors, self-help measures consist in keeping as far away as possible from all sources of infection. This means that contact with people who have a cold, for example, must be avoided, as the immune system cannot fend off the infectious germs it has picked up. The same behavior is also effective in the acquired immune deficiency syndrome in order not to worsen the condition of the disease.

In such cases, in which other serious health disorders, such as autoimmune diseases or cancer, may be the cause of the immune deficiency syndrome, these must be clarified as soon as possible. Only then can the efficient treatment against the immune deficiency syndrome be started as early as possible.