Wiskott-Aldrich Syndrome: a description of the disease

Wiskott-Aldrich syndrome refers to hereditary ailments that only boys suffer from. It appears already in early childhood and, as a rule, leads to death in five to ten years.

This disease was first described in 1937 by the German pediatrician Viscott. He observed it from three siblings, who suffered from persistent bloody diarrhea, eczema and constant ear inflammation, although the four sisters were absolutely healthy. Already in 1954, an American pediatrician named Aldrich established that the disease is inherited as an X-linked recessive trait.

The disease is transmitted to boys, and the carriers of the mutating chromosome are women. The geographical factor is not affected by the prevalence of the problem.

Symptoms and course of the disease

Wiskott-Aldrich syndrome is associated with a decreased number of platelets. In the first years of life, the patient exhibits the following symptoms: poor blood clotting, uninterrupted eczema, bloody diarrhea. Subsequently, a primary immunodeficiency state is observed. Due to a lack of T and B lymphocytes, a person is susceptible to all sorts of viral and bacterial diseases. Immunodeficiency conditions in children provoke permanent inflammation of the middle ear, pneumonia, sinusitis, dropsy and many other serious diseases. In patients with this disease, the risk of oncology is much higher. It should be noted that adults are more likely to develop malignant neoplasms.

In patients with Viscota-Aldrich syndrome, very often only hemorrhagic syndrome is observed , which leads to incorrect diagnosis. In such cases, only after the DNA analysis, at which it is possible to identify the gene responsible for this syndrome, designate the right treatment.

Diagnostics

• A complete blood test to detect a decrease in the number of platelets.
• Study of the blood smear on the structural inferiority of platelets.
• Genetic analysis (performed to detect mutations in the gene responsible for the structure of the protein in the blood).
• Determination of the level of immunoglobulin.
• Conducting prenatal diagnosis to identify Wiskott-Aldrich syndrome in the early stages of pregnancy.
• The determination in blood of the level of the Wiskott-Aldrich protein.

Treatment

Unfortunately, modern science has not yet found a cure for this serious disease. It is known that platelets are destroyed in the spleen, therefore, in the patients who were diagnosed with the "Wiskott-Aldrich Syndrome", this organ was removed. And the patients began to feel much better. The constant transfusion of immunoglobulin and the administration of appropriate antibiotics also improves the general condition of the patient. At present, the introduction of healthy stem cells into the bone marrow is practiced. But while this method is carried out only experimentally. Also, couples who have had this syndrome in the family are advised to take all necessary tests before planning pregnancy.