Glanzmann-Naegeli Disease

Glanzmann-Nechelian disease is a rare disease characterized by a decrease in the number of platelets in the blood. It is also known as Glanzmann thrombocytopenia or thrombocytastema. The disease was discovered at the beginning of the 20th century by Swiss hematologists Erwin Glanzmann and Otto Neheli.

Glanzmann-Nehelian Disease has three main forms of manifestation:

The first form is the most common and manifests itself in the form of minor hemorrhages on the skin and mucous membranes. In severe cases, it can lead to internal bleeding and bleeding into the brain.

The second form manifests as fever, joint and muscle pain, and severe bleeding after an insect bite or other minor injury to the skin.

The third form is an autoimmune variant of the disease that can lead to severely low platelets and an increased risk of bleeding.

The disease is caused by a genetic mutation that disrupts the process of platelet formation. Treatment of Glanzmann-Nägel disease is carried out with the help of hormonal therapy, platelet transfusions, and the use of specific antiplatelet drugs. It is also possible to use various types of immunosuppressive therapy. If treatment does not help, then surgery may be used. In very rare cases, a bone marrow transplant may be required.

This is a serious and dangerous disease, so its diagnosis and treatment must be carried out at an early stage of the disease.

Glanzmann-Nägeli disease is also known as platelet thrombosthenia by Swiss scientists E. Glanzmann and O. Nägeli and is a hereditary disease of an autoimmune nature, belonging to the group of hemorrhagic diathesis.

Etiology The disease is caused by genetic abnormalities - defective or non-functional alleles of the TSC2 and MNG0 genes, which in turn determine resistance to stress and the intensity of expression of the tubulin protein.

Classification There are (Altshtein Ya.Z., 2002): 1. latent stage, duration from 6 months. up to several years with gradual deterioration; 2. pronounced stage, characterized by the duration of the disease for 3-4 months with the phenomena of hemorrhages under the influence of provoking factors (taking medications, physical overload).

Symptoms may be absent or appear gradually and are characterized by multiple hemorrhagic rashes in the area of ​​the mucous membranes, above the surface of the skin - ulcerations, hemorrhages and petechiae (pinpoint intradermal blood