Antibody deficiency syndrome (AMS) is a collective term for congenital and acquired immunodeficiencies that are particularly characterized by a deficiency of immunoglobulin G. As a consequence of this immunodeficiency, there is an increased susceptibility to infections. Treatment is indicated especially in cases of constantly occurring severe infections.
What is antibody deficiency syndrome?
The term antibody deficiency syndrome refers to a variety of congenital and acquired immunodeficiencies that are accompanied by a lack of antibodies. The congenital immunodeficiencies are also referred to collectively as variable immunodeficiency syndrome (CVID). The incidence of CVID is reported to be one in approximately 25,000 individuals. It is assumed that in Germany about 800 to 3200 people suffer from the congenital form of the disease. Accordingly, CVID is a very rare syndrome. However, in relation to other congenital immunodeficiency diseases, it is the most common. Acquired AMS is much more common and can be caused by a variety of pre-existing conditions. In the antibody deficiency syndrome, too few antibodies of the type immunoglobulin G are formed. Immunoglobulin G acts against bacteria and viruses. Therefore, the lack of immunoglobulin G results in a high susceptibility to infections, which leads mainly to respiratory infections. Most commonly, antibody deficiency syndrome is diagnosed in both infancy and early adulthood.
Causes
Antibody deficiency syndrome involves several genetic or acquired disorders. However, most of the gene mutations of congenital AMS are still unknown. In a few cases, however, the gene locus could already be localized. For example, various mutations of the TNFRSF13B gene on chromosome 17 have been found to cause immunodeficiencies. The mode of inheritance of most immunodeficiencies is also unknown. Both sporadic and familial cases of disease have been identified. However, various underlying diseases, poor living conditions, chemotherapies or radiotherapies can also lead to an acquired deficiency of antibodies. As mentioned above, the main feature of antibody deficiency syndrome is the lack of immunoglobulin G, which acts against bacteria and viruses. When it is lacking, bacterial or viral infections can spread unchecked. The antibody deficiency is caused by defects in the regulation of B cells. The expression of symptoms within the syndrome varies.
Symptoms, complaints, and signs
A variety of symptoms can occur in antibody deficiency syndrome. Thus, in addition to chronic respiratory diseases, many other infections, disorders of the digestive system, skin diseases, lymph node swelling, granulomas, autoimmune diseases, as well as tumors occur. Respiratory diseases are dominated by encapsulated bacteria such as Streptococcus pneumoniae, Haemophilus influenzae or Moraxella catarrhalis. Enteroviruses can cause brain inflammation. Lamblia frequently produce diarrhea and mycoplasma not infrequently infect the urinary tract. Due to the constant diarrhea, nutrients are not sufficiently absorbed. Deficiency symptoms can occur. In some cases, the lower respiratory tract also dilates (bronchiectasis), resulting in constant coughing fits and sputum. Bronchiectasis is often accompanied by chronic bacterial infections, which can further destroy the bronchial wall. Furthermore, the spleen and liver enlarge. So-called granulomas often form in the lungs, spleen, liver and bone marrow. These are inflammatory foci with a special structure. Skin changes such as white spot disease, hair loss or granulomas on the skin can also occur. In many cases, autoimmune diseases also occur. Thus, rheumatic joint inflammation, immunologically caused platelet or blood deficiency, and pernicious anemia are frequently observed. Tumors of the thymus, lymphatic system or stomach may also accompany the antibody deficiency syndrome. In general, it must probably be assumed that the life expectancy of patients with antibody deficiency syndrome is somewhat lower than in the normal population. However, few statistical data are available in this regard due to the rarity of the congenital form of the disease. Acquired forms of antibody deficiency are curable by treatment of the underlying disease, unlike the congenital forms.
Diagnosis and course
In cases of recurrent infectious disease, the physician may make a tentative diagnosis of AMS. The diagnosis is confirmed if too little immunoglobulin G is found in the blood. Often, immunoglobulins A and M are also decreased. Other tests are also performed to differentiate between congenital and acquired AMS, such as determination of protein excretion in the urine or protein loss through the intestine.
When should you see a doctor?
When antibody deficiency syndrome is suspected, a physician should be consulted immediately. Anyone who suddenly notices disturbances of the digestive system, skin disorders, or complaints with the respiratory tract that cannot be attributed to any other cause must have them medically clarified. If the antibody deficiency syndrome is detected early, it can usually be cured without any complications. However, if the syndrome remains undetected, infections continue to increase as the disease progresses. At the latest, when severe complaints and increasing physical or mental discomfort are noticed, the symptoms must be taken to a doctor. In case of organ failure or anaphylactic shock, the emergency physician must be consulted immediately. People who have cases of AMS in their family should have regular routine checkups and also seek information about immune system disorders. If unusual symptoms occur that do not subside after one to two weeks at the latest, a visit to the family doctor should be made. Other contacts are rheumatologists, immunologists and specialists for the respective immune defect.
Treatment and therapy
In congenital antibody deficiency syndrome, treatment is required only for individuals who have symptoms. There is no possibility of causative therapy in this form of AMS. Patients must receive intravenous or subcutaneous infusions of immunoglobulins for life, and infusions should be regular. Intravenous infusions are given every two to six weeks. These infusions involve injecting between 200 and 600 milligrams of immunoglobulins per kilogram of body weight. Subcutaneous infusions require much less immunoglobulins to be administered at weekly intervals. Existing bacterial infections are controlled by antibiotics. If acquired AMS is present, the underlying disease must be treated. In these cases, complete cure of AMS is possible.
Follow-up
The need for follow-up in antibody deficiency syndrome often arises from plasmacytoma or multiple myeloma, lymphoma, or blood cancer. These severe tumor diseases require professional treatment. The therapy must also keep an eye on the resulting antibody deficiency syndrome during follow-up care. The lack of antibodies greatly increases the risk of infection. In an organism weakened by tumors, infections can have a much more fatal effect than in a body that can produce sufficient antibodies. In addition, radiation or chemotherapy also attacks healthy cell material. This further weakens the organism fighting for survival. Follow-up care is designed to let the patient know that he or she is under medical observation. This allows recurrences or changes in the causative tumor to be detected more quickly. Regular follow-up is essential in the presence of antibody deficiency syndrome. The general risk of disease is greatly increased. In addition, the aforementioned tumors can cause secondary damage. Therefore, regular follow-up appointments should be arranged. These ensure, through questioning and various control examinations, that everything has been done for the quality of life of those affected. However, the primary or secondary antibody deficiency syndrome can also be triggered by prolonged malnutrition. As a consequence, bacterial respiratory tract infections or gastrointestinal tract infections must be followed up. At the same time, the underlying disease or the triggering nutritional situation must be remedied.
Outlook and prognosis
People affected by congenital antibody deficiency syndrome may be symptom-free for life. They experience no adverse effects and do not need to undergo medical treatments. In contrast, sufferers with symptoms experience recurrent health problems for which no lasting relief can be obtained.They have to face the administration of infusions in regular time intervals in order not to experience deterioration of their health. If the infusions are used continuously, the organism can be sufficiently supplied with the missing antibodies. However, since these antibodies are not sufficiently produced by the body itself and are degraded within weeks, repeated treatment is necessary to maintain health. If this is suspended, the state of health deteriorates considerably within a short time. In the case of an acquired antibody deficiency syndrome, the prognosis prospects are clearly more optimistic than in the case of the congenital syndrome. Here, the organism only needs to be temporarily supplied with sufficient antibodies. Depending on the underlying disease present, the healing process may involve a single infusion or multiple infusions. As soon as the underlying disease is cured or the organism has been sufficiently stabilized, it independently produces the necessary amount of the vital immunoglobulin. This results in a permanent cure of the antibody deficiency syndrome and freedom from symptoms.
Prevention
Congenital antibody deficiency syndrome cannot be prevented. Only measures can be taken to prevent infectious diseases. These include reducing the risk of infection. Immunocompromised individuals should avoid large gatherings of people, especially during times of increased risk of infection. To prevent the acquired form of AMS, a healthy lifestyle with a balanced diet and plenty of exercise helps. Furthermore, alcohol and smoking should also be avoided. A healthy lifestyle can also support the therapy of the underlying disease and improve the prospects of recovery.
Aftercare
The need for follow-up care for antibody deficiency syndrome often arises from plasmacytoma or multiple myeloma, lymphoma, or blood cancer. These severe tumor diseases require professional treatment. The therapy must also keep an eye on the resulting antibody deficiency syndrome during follow-up care. The lack of antibodies greatly increases the risk of infection. In an organism weakened by tumors, infections can have a much more fatal effect than in a body that can produce sufficient antibodies. In addition, radiation or chemotherapy also attacks healthy cell material. This further weakens the organism fighting for survival. The aftercare measures are intended to convey to the patient that he or she is under medical observation. This allows recurrences or changes in the causative tumor to be detected more quickly. Regular follow-up is essential in the presence of antibody deficiency syndrome. The general risk of disease is greatly increased. In addition, the aforementioned tumors can cause secondary damage. Therefore, regular follow-up appointments should be arranged. These ensure, through questioning and various control examinations, that everything has been done for the quality of life of those affected. However, the primary or secondary antibody deficiency syndrome can also be triggered by prolonged malnutrition. As a consequence, bacterial respiratory tract infections or gastrointestinal tract infections must be followed up. At the same time, the underlying disease or the triggering nutritional situation must be remedied.
What you can do yourself
Antibody deficiency syndrome (AMS), which is characterized by a relative deficiency of immunoglobulins G, also known as gamma globulins, means a sensitive weakening of the immune system against bacterial and viral infections. Gamma globulins make up the bulk of antibodies in blood plasma. They are each directed at a specific pathogen with which the immune system has already been confronted once and has the corresponding immune response ready via the immunoglobulins M . Adjustment of daily behavior and effective self-help measures require that the causative factors of the disease are known. AMS may be genetic or may be triggered by certain circumstances such as extreme protein deficiency or by chemotherapy or radiotherapy. If the disease is caused by genetic factors, self-help measures consist mainly of staying away from sources of infection.This means that contact with persons who obviously have a cold should be avoided because the immune system cannot provide an appropriate defense against the infectious germs ingested. The same behavior in everyday life is also purposeful in the case of an acquired AMS, if the causes are known but cannot be prevented for certain reasons, for example to achieve other health effects. In cases where other serious health disorders such as autoimmune diseases or tumors are considered as the cause of AMS, these must be clarified quickly so that efficient therapy can be started as early as possible.
