Hereditary Angioedema (HAE) is a rare hereditary illness characterized by periodic episodes of swelling beneath the skin, particularly in the face, limbs, gastrointestinal tract, and upper airway. This disorder is caused by a lack or dysfunction of C1 inhibitor (C1-INH), a protein that regulates many pathways in the body, including the complement system and bradykinin synthesis. The defining sign of HAE is rapid and unpredictable swelling, which can be debilitating and life-threatening, particularly when it affects the airways. Facial swelling, stomach pain, and extremities swelling are all typical symptoms. These bouts usually last a few days, with the severity and frequency varied greatly between individuals. HAE is an inherited condition that is normally passed down in an autosomal dominant fashion. This indicates that a person with HAE has a 50% probability of passing on the genetic mutation to their offspring. However, in approximately 25% of cases, the illness results from a spontaneous genetic mutation. HAE is classified into three categories, each of which involves a different genetic mutation. Type I and Type II HAE are caused by low or malfunctioning C1-INH protein, whereas Type III, a less recognized type, has normal C1-INH levels but exhibits identical symptoms. HAE can be difficult to diagnose because its symptoms are similar to those of other illnesses. Genetic testing and blood tests to determine C1-INH levels and function are critical for correct diagnosis. Treatment for HAE is primarily concerned with managing and preventing attacks. Acute attacks frequently necessitate rapid treatment with drugs like C1-INH replacement therapy, ecallantide, or icatibant to relieve symptoms. Some people may benefit from preventative medications that lower the frequency and severity of attacks. In recent years, a number of targeted therapeutics have emerged, including drugs that block bradykinin production or effects. These improvements have opened up new avenues for managing HAE and increasing the quality of life for those affected. Living with HAE necessitates close monitoring, avoiding recognized triggers, and implementing a specific management plan. Patients and their families frequently benefit from information and assistance from healthcare professionals as they negotiate the obstacles of this chronic condition.
