[Hereditary angioedema in organs of the head and neck as an indication for emergency tracheotomy]

Angioedema (angioneurotic edema) is often associated with urticaria, but edema is located deeper in the skin and mucous membranes. There are limited, painless, soft and medium hard swellings. Lack of general symptoms is evident, except if mucous membranes of the gastrointestinal system are affected and pain appears. It is particularly dangerous if located in the brain or larynx when there is a risk of suffocation. In 20% cases with laryngeal involvement intubation or tracheotomy is necessary.

This is a case report of a patient hospitalized at the Clinic, having a swelling at the front side of neck, lower lip and difficulties with deglutition. Occasionally the patient had similar difficulties in the main joints whereas periodical swellings are characteristic for his father, sister, and sister's daughter. Clinical check-up indicated a greyish swelling, of the oropharynx structure, with 1 cm respiratory space. Larynx was not visible due to swelling of epiglottis. The patient received intravenous steroid therapy, followed by infusion of physiologic solution with calcium. As his condition become very bad half an hour after admittance he was transported to the operation room. He received adrenaline but within the excepted time his respiration did not improve. Emergency tracheotomy was performed and afterwards his respiration and skin colour became normal. Regarding family anamnesis, clinical picture and laboratory results, hereditary angioedema was diagnosed.

Hereditary angioedema is a rare form of angioedema which is an inherited autosomal dominant disorder. The disease is a result of deficit in C esterase inhibitor, which is a serum glycoprotein of SERPIN family (serum protease inhibitors), that is usually synthesized in hepatocytes. All the diseased are heterozygotes. There are two genetic variantions of the disease: I--patients with decreased quantity of inhibitor level in serum due to decreased synthesis and II--patients that have normal protein concentrations, but with abnormal protein, which is functionally inactive. Laryngeal edema can very soon cause narrowing of respiratory space, and if tracheotomy is not performed on time, suffocation occurs. Tracheotomy is one of the most urgent surgical interventions with the purpose to make patient's breathing easier to prevent suffocation and sometimes to save thr patient from certain death.

In differential diagnosis of laryngeal edema, hereditary angioedema should be considered. Therapy of acute hereditary angioedema attacks should involve antihistamines, corticosteroids and adrenaline, as well as administration of fresh frozen plasma or infusion of C 1 inhibitor concentrate. Hereditary angioedema of the head and neck causing airway obstruction, is an indication for emergency tracheotomy.