C1INHDefizitSyndrom

C1INH-Defizit-Syndrom, also known as Hereditary Angioedema, is a rare genetic disorder characterized by recurring episodes of severe swelling. It is caused by a deficiency or malfunction of the C1-inhibitor (C1-INH), a protein that regulates the complement system and the contact system of the blood.

The C1-INH protein plays a crucial role in preventing the excessive activation of these systems, which can lead to the formation of bradykinin and other mediators that cause blood vessels to dilate and allow fluid to leak into tissues. As a result, individuals with the C1-INH-Defizit-Syndrom may experience painful and potentially life-threatening swellings in various parts of the body, including the face, neck, abdomen, and limbs.

The symptoms of C1INH-Defizit-Syndrom typically begin to manifest during childhood or adolescence, but may not become apparent until early adulthood. Episodes of swelling can be triggered by various factors, such as stress, trauma, infection, and certain medications. If left untreated, these episodes can lead to serious complications, including respiratory arrest, laryngeal edema, and even death.

Diagnosis of C1INH-Defizit-Syndrom is based on a combination of clinical evaluations, laboratory tests, and genetic analysis. Urinary C4 levels and plasma C1-INH activity are often used to distinguish between acute attacks and underlying C1-INH levels. Treatment options include plasma infusion, icatibant injections, and fresh frozen plasma, which aim to replenish the deficient C1-INH protein and alleviate symptoms.