HomeConditionsHereditary Angioedema

Hereditary Angioedema

Hereditary Angioedema (HAE) is a rare genetic disorder characterized by recurrent swelling caused by a deficiency or malfunction of the C1 esterase inhibitor (C1-INH) protein. HAE has three types, with type I being the most common. Symptoms include swelling in various body parts, including the skin, gastrointestinal tract, and airways. Treatment options include medication, attack management, and lifestyle modifications.

Best medications for Hereditary Angioedema

Drug NameClassRouteStandard DosagePrice
FirazyrBradykinin Receptor AntagonistsSubcutaneous30 MG/3MLfrom$1587.98
KalbitorPlasma Kallikrein InhibitorsSubcutaneous10 MG/MLfrom$5586.44
TakhzyroPlasma Kallikrein InhibitorsSubcutaneous300, 150 MG/2MLfrom$25791.60
HaegardaC1 InhibitorsSubcutaneous2000, 3000 UNITfrom$69550.22
OrladeyoPlasma Kallikrein InhibitorsOral110, 150 MGfrom$45218.69

Hereditary Angioedema

Hereditary Angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of swelling beneath the skin and mucosal membranes. This condition is caused by a deficiency or dysfunction of a protein called C1 esterase inhibitor (C1-INH), which plays a significant role in regulating inflammation and preventing fluid leakage from blood vessels.

Causes

HAE is an autosomal dominant disorder, meaning that individuals with an affected parent have a 50% chance of inheriting the condition. The primary cause of HAE is a mutation in the SERPING1 gene, which controls the production of C1-INH. When the level or function of C1-INH is reduced, it can lead to uncontrolled activation of certain proteins involved in the inflammatory response, resulting in the characteristic swelling seen in HAE.

Types

There are three main types of HAE:

1. Type I HAE:

This is the most common form of HAE, accounting for approximately 85% of cases. Type I HAE is characterized by reduced levels of functional C1-INH.

2. Type II HAE:

About 15% of individuals with HAE have Type II HAE. In this form, the levels of C1-INH are normal, but the protein is dysfunctional.

3. Type III HAE:

Previously known as estrogen-dependent HAE, Type III HAE primarily affects women. It is associated with hormonal fluctuations, particularly during puberty, pregnancy, and menstruation. Type III HAE is characterized by normal levels of functional C1-INH.

Symptoms

The hallmark symptom of HAE is recurrent attacks of swelling, often involving the skin, gastrointestinal tract, and airways. The severity and frequency of these episodes can vary among individuals, and they may last for a few hours to several days.

Common sites of swelling include the face, lips, tongue, throat, hands, feet, and genitals. Swelling in the intestinal wall can cause severe abdominal pain, nausea, vomiting, and diarrhea. In some cases, airway swelling can lead to life-threatening respiratory distress.

Treatment

The management of HAE focuses on preventing attacks and minimizing their impact when they occur. This involves:

1. Medications:

Several medications are available to help prevent or treat HAE attacks. These include:

  • Replacement therapy: Intravenous infusion of C1-INH concentrates can help replace the deficient or dysfunctional protein and reduce symptoms.

  • Bradykinin receptor antagonists: These drugs block the effects of bradykinin, a chemical that causes blood vessels to become leaky and leads to swelling.

  • Androgens: Certain male hormones, such as danazol, can help increase the level of C1-INH and reduce the frequency of attacks.

2. Attack management:

During an acute attack, medications such as antihistamines, corticosteroids, and pain relievers may be used to alleviate symptoms and reduce swelling. It is essential for individuals with HAE to work closely with their healthcare provider to develop a personalized treatment plan.

3. Triggers and lifestyle modifications:

Avoiding triggers that may precipitate HAE attacks, such as trauma, stress, hormonal changes, and certain medications,