The main task of the leukocytes in human blood is to ward off dangerous diseases. The body makes blood cells known as white blood cells primarily in the bone marrow. The basis for all types of leukocytes is the pluripotent stem cell, from which the white blood cells develop. Deficits in the concentration as well as the adhesion deficit of the white blood cells lead to various symptoms. These range from increased susceptibility to infectious diseases to delayed mental and physical development.
Adhesion deficit – symptoms and diagnosis
In a healthy body, leukocytes roll along the inner walls of blood vessels in search of a focus of infection. If they encounter an infection, they attach themselves there. An immediate procedure kills the pathogen and eliminates it from the body.
In the case of an adhesion deficit, the ability of the white blood cells to attach themselves to the vessel wall is disrupted by a genetic defect. The leukocytes have an unusually smooth surface that prevents them from sticking to the focus of infection. Thus, the leukocytes cannot fulfill their task of immune defence.
The adhesion deficit as a leukocyte disease is one of the rare diseases . Around 300 cases are currently documented in Europe. The disease occurs after birth and, if left untreated, leads to a reduced life expectancy. Typical symptoms are growth and development disorders, a delayed fall of the umbilical cord and a mental deficit.
Those affected are prone to infections of the skin, respiratory tract and mouth. The focus of infection does not show the typical characteristics such as swelling, redness, pus or increased temperature. Periodontal disease often leads to premature tooth loss. In many cases, the disease is accompanied by a greatly increased tendency to bleed. In mild cases, the symptoms are less pronounced. There is also the prospect of a longer life expectancy due to the absence of life-threatening infections.
Diagnosis is based on complete quantitative blood counts and clinical findings. A molecular analysis allows a diagnosis before the birth of the child. Considered individually, the symptoms do not allow a reliable conclusion to be drawn about an adhesion deficit of the white blood cells. Genetic counseling is necessary for affected families during treatment.
Therapy and chances of recovery in patients with adhesion deficit
Since it is a hereditary disease, there are currently no reliable therapy methods. A bone marrow transplant with hematopoietic stem cells increases the possible life expectancy into adulthood.
Without a transplant, those affected die from severe infections during the first two years of life. The main focus of therapy is on treating the symptoms. Antibiotics reduce the effects of the infections and are essential when there is an adhesion deficit. The primary goal is to prevent a life-threatening infection. A good prognosis is given by the administration of fucose. Fucose is one of the monosaccharides and is used to produce fucosides.
Even with successful therapy, those affected remain physically and mentally handicapped for life. The short stature typical of adhesion deficit persists into adulthood. Due to the short arms and legs as well as the club hands and feet, those affected are restricted in their freedom of movement. The same applies to the mental deficit. The children suffer from impaired language development and psychomotor retardation. In special kindergartens and special schools there are good opportunities for treating children with an adhesion deficit of the leukocytes.
