Variable Immunodeficiency Syndrome

Variable Immunodeficiency Syndrome

Variable immunodeficiency syndrome, also known as common variable immunodeficiency – CVID – is a congenital immunodeficiency. Within the defect, immunoglobulin synthesis, especially immunoglobulin G, is extremely low.

What is variable immunodeficiency syndrome?

CVID, or the variable immunodeficiency system, is an inherited 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 increasingly from gastrointestinal complaints and infections of the airways ; the triggers are bacteria. For hypermenorrhea meaning, please visit phonejust.com.

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

Causes

In the context of the variable immunodeficiency syndrome, the B cells are often present but not able to function. For this reason, the necessary number of antibodies cannot form to protect the body from any infections. Unfortunately, the patients therefore suffer from a (sometimes stronger, sometimes smaller) reduction in the antibody classes IgA, IgM and IgG.

So far, the genetic causes for which the defect can arise have not yet been clarified. However, medical professionals are of the opinion that women and men are equally affected by variable immunodeficiency syndrome. Familial clusters have already been observed, although doctors are currently of 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 enteroviruses (encephalitis) and infections of the urinary tract (mycoplasma). Diarrhea and insufficient nutrient intake are just as possible as chronic respiratory diseases ( bronchiectasis ).

As part of the changes in the lymphatic tissue, enlargements of the spleen and an enlarged liver were documented (hepato-splenomegaly). Granulomas are also symptoms and signs of CVID; these manifest themselves as 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 caused lack of blood platelets; about 20 percent of all those affected complain of immune thrombocytopenia. Occasionally, immunologically induced and pernicious anemia can also occur. Other symptoms include hair loss, skin granulomas and vitiligo. In addition, tumors (thymomas, gastric cancer, malignant lymphomas) can form.

Diagnosis & course of disease

Due to recurring respiratory 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 CVID, 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 lack of antibodies is the essential building block and also the indication that a variable immunodeficiency syndrome is present. However, so that the definitive diagnosis can actually be made, the doctor must rule out any other diseases that can definitely cause an antibody deficiency.

This includes, for example, the monoclonal replication 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 intestine) must also be completely ruled out in advance. In addition, special immunological tests are also carried out; for example, the subclasses of the immunoglobulin B values ​​are measured.

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

Complications

In the context of the variable immunodeficiency syndrome, a variety of complications can occur that contribute to a reduction in life expectancy. Precise statistical information is not available. However, it has been observed that regular infusions of immunoglobulins lead to an improvement in prognosis.

The most important complications are severe bacterial inflammation of the respiratory tract, viral encephalitis, diarrhea caused by lamblia or infections of the urinary tract by mycoplasma. Chronic respiratory diseases can lead to bronchiectasis, which is characterized by an irreversible expansion of the bronchi with chronic suppurating bacterial infections of the bronchial wall.

There is constant tissue death (necrosis) 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 foci of inflammation in the internal organs.

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

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

When should you go to the doctor?

This disease usually requires treatment by a doctor. Only early diagnosis and subsequent treatment can prevent further complications or symptoms. The person concerned should therefore contact a doctor at the first sign 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 also a very low resilience. An enlarged liver can also indicate this disease.

Many patients also suffer from hair loss or white spots that spread on 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 life expectancy of those affected is reduced.

Treatment & Therapy

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

A new treatment method based on the subcutaneous or intravenous infusion of immunoglobulins was found some time ago. The doctor speaks of IVIG therapy as part of the treatment. With IVIG therapy, the doctor administers a strong dosage of 200 to 600 mg, depending on body weight, every two to six weeks. If the doctor opts for a subcutaneous infusion, the dosage is lower, but this is administered weekly.

The aim of IVIG therapy is to keep the immunoglobulin G level above 5 g/l. If diseases occur that are typical of the variable immunodeficiency syndrome, the bacterial infections are treated with antibiotics. The dosage is higher; it takes much longer to take than in healthy people.

Prevention

Due to the fact that no reasons that have caused an outbreak of the immune deficiency could be found so far, 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 immunodeficiency syndrome as such cannot be treated. Therefore, the treatment and follow-up care extends to the resulting diseases.

The goal is, on the one hand, to heal the present illness and, on the other hand, to avoid a relapse and prevent further physical complaints. The patient’s quality of life is paramount. If the patient has no symptoms, neither therapy nor follow-up checks are necessary. The form of follow-up care depends on the disease in the affected organs. The patient is treated with appropriate medication, and the tolerability and healing are checked during follow-up care.

The aftercare ends with the successful elimination of the symptoms. Special care must be taken when prescribing antibiotics, as they must not be taken for a certain period of time. If the immunodeficiency syndrome represents 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

The immunodeficiency syndrome is a challenge in the life of the patient due to the weakening of the immune system, especially against viral and bacterial infections. 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 that has already attacked the immune system and shows the appropriate immune response via the immunoglobulins M. The adaptation of everyday behavior as well as effective self-help measures presuppose that the causative factors of this disease are already known. The disease can be genetic or triggered by certain circumstances such as severe protein deficiency or chemotherapy.

If the disease is caused by genetic factors, self-help measures consist of staying away from as many sources of infection as possible. This means that contact with people who have a cold, for example, must be avoided, since the immune system cannot fight off the infectious germs that have been absorbed. The same behavior is also effective in the case of the acquired immunodeficiency syndrome in order not to bring about a deterioration in the state of the disease.

In such cases, in which other serious health disorders such as autoimmune diseases or cancer are possible causes of the immunodeficiency syndrome, these must be clarified as quickly as possible. Because only then can the efficient treatment against the immunodeficiency syndrome be started as early as possible.

Variable Immunodeficiency Syndrome