8. Hereditary angioedema.
Hereditary angioedema is an episodic swelling disorder with autosomal dominant inheritance. Attacks are characterized by brawny, self-limited, nonpruritic edema of the deep dermal layers of the skin that most often involve the hands and feet. They usually begin in childhood and become more severe after puberty. Patients also have episodic attacks of severe abdominal pain caused by edema of the gastrointestinal mucosa. Swelling attacks are life threatening when they involve the airway. Estrogens exacerbate attacks, and in some patients attacks are precipitated by trauma or psychologic stress. The disease is caused by a mutation in one of the 2 copies of the gene for the plasma protein C1 inhibitor, with the product of 1 gene unable to control generation of bradykinin. Eighty-five percent of patients have low antigenic levels of C1 inhibitor, and 15% have normal levels of poorly functioning protein. Most patients have decreased plasma complement protein C4 levels. Impeded androgens and, less frequently, epsilon-aminocaproic acid are currently the mainstays of chronic treatment. These agents or fresh frozen plasma are also used for prophylaxis. At this time, acute therapy is mostly supportive. There are currently ongoing multiple trials of new therapeutic agents. In half a century, a life-threatening disease has become one that is manageable and rarely causes death.
Frank
Michael M
MM
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710-0001, USA. frank007@mc.duke.edu
D015119:Aminocaproic Acid / Q000627:therapeutic use; D000728:Androgens / Q000627:therapeutic use; D054179:Angioedemas, Hereditary / Q000235:genetics / Q000503:physiopathology / Q000517:prevention & control / Q000628:therapy; D000933:Antifibrinolytic Agents / Q000627:therapeutic use; D001803:Blood Transfusion; D006801:Humans; D010949:Plasma
D000728:Androgens; D000933:Antifibrinolytic Agents; D015119:Aminocaproic Acid