Hypogammaglobulinemia is a clinical picture that belongs to the group of so-called primary immunodeficiencies. Characteristic of this particular immunodeficiency is that it is determined by a lack of antibodies. Basically, hypogammaglobulinemias are diseases in which gamma globulins, especially immunoglobulins, are completely absent.
What is hypogammaglobulinemia?
The term hypogammaglobulinemia is predominantly used as a synonym for the term agammaglobulinemia. The only difference is that in hypogammaglobulinemia the gamma fraction is decreased, whereas in agammaglobulinemia it does not exist at all. Observations have shown that a large proportion of agammaglobulinemias are basically hypoglobulinemias. However, this difference is not of clinical relevance in most cases. In contrast, hypogammaglobulinemia is differentiated from dysgammaglobulinemia, which is much more common. Both hypogammaglobulinemias and dysgammaglobulinemias occur in a variety of immunodeficiencies, such as WHIM syndrome, ICOS deficiency, CVID, and hyper-IgM syndrome. Hypogammaglobulinemia is also possible as an accompanying symptom. In general, antibody deficiency disorders such as hypogammaglobulinemia are the most common immunodeficiencies.
Causes
In principle, all antibody-deficiency diseases, including hypogammaglobulinemia, are based on reduced production of antibodies. Antibodies are called immunoglobulins by their medical name. These are the body’s own proteins that are used to defend against specific microorganisms. A basic distinction is made between congenital, so-called primary hypogammaglobulinemias and, on the other hand, acquired or secondary hypogammaglobulinemias. Secondary hypogammaglobulinemias can be caused by certain diseases, such as malignant or malignant diseases. These are often related to the system responsible for blood formation. For physiological reasons, hypogammaglobulinemias occur in babies in the period from the second to the sixth month. During this period, the infant’s organism replaces the antibodies absorbed from the mother in utero with those produced by itself. During this period, the probability of serious bacterial infections is increased. A particular and also relatively common manifestation of hypogammaglobulinemia is the so-called selective IgA deficiency. In some antibody deficiency diseases, such as agammaglobulinemia, genetic causes are also involved in the development of the disease.
Symptoms, complaints, and signs
In the setting of hypogammaglobulinemia, affected patients may experience a variety of different symptoms and complaints. For example, a feared complication of vaccinations is a lack of response to the vaccine antigens. In addition, in many cases the disease leads to an increased susceptibility to bacterial infections. The resulting infections often affect the upper respiratory tract, gastrointestinal tract, and skin. In a number of syndromes, hypogammaglobulinemia also occurs as a major feature. Mental retardation sometimes occurs in association with X-linked hypogammaglobulinemia and neurologic deficits. X-linked hypogammaglobulinemia also sometimes occurs in short stature resulting from an isolated deficiency of growth hormones. In addition, the condition is part of the osteopetrosis-hypogammaglobulinemia syndrome. Basically, antibody deficiency diseases, which include hypogammaglobulinemia, differ based on the severity and expression of symptoms. The diseases usually have in common that the patients suffer from recurrent infections. These primarily affect the sinuses and ears, for example in the form of middle ear infections. Conjunctivitis is more common in the eyes, while purulent rhinitis appears in the nose. Bronchitis often affects the bronchi, and pneumonia may occur in the lungs. Recurrent infections on the lungs can lead to chronic changes in the organ. The bronchial tubes dilate, making it easier for pus to accumulate. Diarrhea is favored by clustered infections of the gastrointestinal tract.Autoimmune reactions are also possible, in which the immune system attacks the body’s own substances and tissues.
Diagnosis and course of the disease
To diagnose hypogammaglobulinemia, it is essential for the affected person to consult an appropriate specialist. The latter will first discuss the patient’s medical history, possible previous illnesses, and individual lifestyle together with the patient. The symptoms described above are of central importance, as they provide indications of the severity of the hypogammaglobulinemia. Blood tests are necessary to reliably diagnose an antibody deficiency. Antibodies are detectable in the blood and can be determined precisely in terms of quantity. In addition, the deficiency of a single subgroup of antibodies can be precisely determined. It is also necessary to perform an analysis of so-called specific antibodies, which are directed against specific pathogens and components of blood groups.
Complications
As a result of hypogammaglobulinemia, the affected person is usually relatively frequently ill and frequently affected by infections and inflammations. This mainly involves infections of the respiratory tract, so that breathing difficulties or pneumonia occur. In the worst case, this can be fatal for the patient. Furthermore, there may also be complaints of the stomach. In many cases, patients suffer from reduced intelligence and retardation, so that they are dependent on the help of other people in everyday life. Not infrequently, hypogammaglobulinemia also leads to short stature. As the disease progresses, inflammation of the nasal cavities or middle ear also occurs. The constant infections and inflammations can also have a negative effect on the patient’s psychological state and lead to a reduced quality of life. The stomach complaints often cause diarrhea or pain in the abdominal area. As a rule, it is not possible to cure hypogammaglobulinemia permanently. Therefore, treatment is carried out with the help of infusions and medication and can limit the symptoms for a short period of time. However, the affected person must undergo the treatment several times. Life expectancy is usually reduced by hypogammaglobulinemia.
When should you see a doctor?
Since hypogammaglobulinemia does not heal itself and, in most cases, the course of the disease is negative, it is essential for the affected person to see a doctor. This can prevent further complications and discomfort. A visit to the doctor is necessary if the patient frequently suffers from infections and inflammations. Especially the respiratory tract is affected by these infections, so that severe breathing difficulties may occur. Likewise, mental retardation often indicates hypogammaglobulinemia and should be examined by a physician. Complaints of the eyes or frequent inflammation of the conjunctiva may also indicate the disease. The sooner the complaints are investigated, the higher the likelihood of a complete recovery. In most cases, hypogammaglobulinemia can be diagnosed by a general practitioner or by a pediatrician. However, further treatment requires the involvement of various specialists to alleviate the symptoms of hypogammaglobulinemia. If diagnosed early, there is usually no decreased life expectancy.
Treatment and therapy
To date, there are no known ways to cure antibody deficiency in general and hypogammaglobulinemia in particular in the long term. However, affected patients can receive immunoglobulin G replacement. This is the main component of antibodies. For this purpose, special antibodies are filtered from the blood of plasma donors. After the antibodies have undergone intensive purification, they are administered to the individuals either intravenously or subcutaneously by regularly scheduled injection. This delivery of antibodies does a good job of containing recurrent infections in most cases.
Prevention
Specific measures to prevent hypogammaglobulinemia are not yet known. In addition, the disease also has a genetic component that cannot be influenced in any way. This makes it all the more important to consult a physician immediately if signs or symptoms of the disease appear.
Aftercare
In most cases of hypogammaglobulinemia, the affected person has no particular options for follow-up care.Those affected should contact a physician at the first symptoms and signs of the disease so that early treatment can be initiated. A complete cure is not possible. If there is a desire to have children, genetic testing and counseling can also be performed in the case of hypogammaglobulinemia. This may prevent the disease from recurring in descendants. Affected individuals are usually dependent on taking various medications. The doctor’s instructions should always be followed, with attention paid to the correct dosage and regular intake. In case of any ambiguity or questions, the doctor should always be consulted first. Since a complete cure for hypogammaglobulinemia is not possible, affected individuals are dependent on taking the medication for the rest of their lives. Further measures of follow-up care are usually not necessary. The disease also does not reduce the life expectancy of the affected person. However, the disease makes the risk of infectious diseases relatively high, so the affected person should take special precautions against them.
This is what you can do yourself
Since the lack of immunoglobulins constitutes the condition of hypogammaglobulinemia, self-help is primarily about strengthening and supporting one’s own immune defenses. The risk of easy infection with infectious diseases, is difficult for many patients to handle. But there are some precautions you can take, the challenge is to avoid bacteria as much as possible. Hand cleaners, available at any drug store, are good for this. A large part of the immune system is in the gut, or depends on gut health. Keeping the gut fit is helped by probiotics and a healthy diet. Fruits and vegetables, especially salads, should be washed especially thoroughly. Anywhere bacteria can form, cleaning and washing is very important for hypogammaglobulinemia patients. For many people suffering from hypogammaglobulinemia, participation in support groups is helpful. Especially in the period after diagnosis, the emotional support offered in groups is a great support. Individual measures to improve the quality of life and to combat hypogammaglobulinemia are shared in the exchange of experiences. However, patients and relatives also come together on online forums to share experiences and have the opportunity to alleviate individual symptoms with the support of others.