Hereditary Angioedema; Disorder That Results In Recurrent Attacks of Severe Swelling

 

Hereditary Angioedema Market

Hereditary angioedema (HAE) is an inherited disorder characterized by recurrent episodes of nonpitting, nonpruritic, submucosal, or subcutaneous swelling. The life-threatening condition is caused due to the lack of C1-esterase inhibitor (C1-INH) causing the blood vessels to dilate. HAE due to C1-inhibitor deficiency (HAE-C1-INH) is a rare, autosomal-dominant disease, which is characterized by recurrent attacks of diffuse, marked, nonpruritic, and nonpitting skin swellings, laryngeal edema, and painful abdominal attacks.

The most common areas of the body to develop swelling are face, limbs, airway, and intestinal tract. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Symptoms often begin by age 5-11 years and worsen during puberty, but attacks can occur at any age and recur throughout life. An HAE attack can result in rapid swelling of the face, limbs, feet, hands, intestinal tract, trachea (windpipe), or larynx (voice box). Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty.

On average, untreated individuals have an attack every 1 to 2 weeks, and most episodes last for about 3 to 4 days. There is no way to tell if the next Hereditary Angioedema (HAE) attack will be severe. When untreated, the swelling in an HAE attack usually increases over 12-36 hours and then gradually subsides during the next 2 to 5 days. HAE due to C1-INH is a rare genetic disorder in which mutations in the SERPING1 gene result in deficiency (type I) or dysfunction (type II) of C1 inhibitor (C1-INH) protein.

HAE type II is a more uncommon form of the disorder and may occur because of abnormal C1 esterase proteins that do not function properly. According to the National Organization for Rare Disorders, around one in 50,000 to 150,000 individuals is affected by this disorder worldwide. According to the National Institutes of Health (NIH), around 6,000 people (1 in 50,000) in the U.S. are affected by HAE either as a result of type I or type II.

 

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