Hereditary Angioedema: A Rare but Potentially Deadly Disease

 

Hereditary Angioedema

What is Hereditary Angioedema?

Hereditary angioedema (HAE) is a rare genetic disorder that causes swelling in various body parts, including airways in the lungs. The swelling is caused by decreased levels of the C1 esterase inhibitor. This protein normally regulates other proteins involved in a process called the complement system which helps clear away foreign substances in the body. Without enough C1 esterase inhibitor, uncontrolled inflammation occurs and this causes swelling.

Causes and Genetics of HAE

HAE is caused by a mutation or abnormalities in the gene that controls the C1 esterase inhibitor protein. Approximately 85% of HAE cases are inherited in an autosomal dominant pattern, which means only one copy of the abnormal gene is necessary to develop symptoms of Hereditary Angioedema. The remaining 15% of cases appear in individuals with no family history and may be the result of spontaneous genetic mutations. People with HAE will have either low levels or dysfunctional C1 esterase inhibitor protein.

Symptoms of Hereditary Angioedema

The most common symptoms of HAE include swelling of the skin in various body parts like the limbs, genitals, face, intestinal tract and airway. Skin swellings known as angioedema are painless and may look like hives but are not itchy. Episodes typically resolve after a few days. Abdominal attacks involve painful swelling of the intestinal wall and can mimic an acute surgical emergency like appendicitis. The most dangerous attacks involve swelling of the larynx which can lead to airway obstruction and potentially suffocation if not treated promptly.

Diagnosis and Testing for HAE

Diagnosing HAE can be challenging as symptoms can mimic other conditions. Blood tests are used to measure levels of the C1 esterase inhibitor protein and function. Low antigenic (quantity) or low functional levels confirm the diagnosis of HAE. Genetic testing may also be done to check for mutations in the associated SERPING1 gene. Episodes are usually diagnosed clinically based on family history, physical exam findings and responsive treatment. During an acute attack, imaging tests are not usually helpful in diagnosing HAE but may be used to rule out other conditions.

Treatment of Hereditary Angioedema Attacks

Acute HAE attacks are treated using products that replace or supplement the deficient C1 esterase inhibitor. These include plasma-derived C1 esterase inhibitors (Cinryze, Berinert, and Haegarda), a bradykinin receptor blocker (Firazyr), and a kallikrein inhibitor (Takhzyro). The goal is to administer treatment as early as possible during an attack to abort swelling and relieve symptoms. C1 esterase inhibitors work best for facial, abdominal or laryngeal attacks while icatibant (Firazyr) is preferred for isolated skin swellings in non-life-threatening areas. For severe laryngeal attacks, emergency treatment in a hospital may be necessary to maintain an open airway.

Long Term Management of HAE

In addition to acute treatments, patients may also use long-term prophylactic therapy to help prevent attacks from occurring. Products approved for prophylaxis include Cinryze, Takhzyro, oral danazol, and androgens like stanozolol. Having quick access to acute treatments and developing an individualized treatment plan in collaboration with an HAE specialist is important for safely managing this condition long term.

Prognosis and Complications of Hereditary Angioedema

With proper diagnosis and access to modern treatments, the prognosis for people with HAE has greatly improved. Untreated, the condition can be potentially fatal if swelling occurs in the larynx or intestinal tract. Prompt treatment of acute attacks helps prevent complications. Laryngeal attacks pose the highest risk and may require intubation or tracheotomy. Rarely, prolonged attacks can lead to complications from prolonged tissue swelling or damage. With appropriate prophylaxis and acute treatment plans in place along with patient education regarding recognition of symptoms, risk of death from HAE is low. However, quality of life may still be impaired during active periods of swelling. Outbreaks continue to be unpredictable and prompt access to care during an episode remains important.

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