Understanding Hereditary Angioedema (HAE): Causes, Symptoms, Diagnosis, and Treatment Options

hereditary angioedema

Hereditary angioedema (HAE) is a rare genetic disorder that affects the immune system and causes recurrent episodes of swelling in various parts of the body

Hereditary angioedema (HAE) is a rare genetic disorder that affects the immune system and causes recurrent episodes of swelling in various parts of the body. It is inherited in an autosomal dominant manner, meaning that a person with one affected parent has a 50% chance of inheriting the condition.

HAE is primarily caused by mutations in the C1 inhibitor (C1-INH) gene, which plays a crucial role in regulating a protein called C1 esterase inhibitor. This protein helps control the activation of complement, a part of the immune system responsible for inflammation and defense against infections. In HAE, the mutations lead to reduced or dysfunctional C1-INH protein, resulting in abnormal activation of complement and the release of chemicals called bradykinins, which cause blood vessels to widen and leak fluid into surrounding tissues. This fluid accumulation causes swelling, particularly in the face, extremities, gastrointestinal tract, and airways.

The symptoms of HAE can vary in severity and frequency among individuals. Common signs include sudden, painful swelling in the affected areas, which can last for hours to several days. Swelling in the airway can be life-threatening, leading to difficulty breathing and potentially fatal asphyxiation if left untreated. Gastrointestinal symptoms include abdominal pain, nausea, vomiting, and diarrhea.

Diagnosis of HAE involves a thorough medical history, physical examination, and laboratory tests. Blood tests can measure levels and function of C1-INH, as well as levels of complement proteins and bradykinin. Genetic testing can confirm the presence of mutations in the C1-INH gene. It is important to differentiate HAE from other types of angioedema and allergic reactions, as treatment approaches may differ.

Although there is currently no cure for HAE, there are treatments available to manage and prevent episodes. Acute attacks can be treated with medications that help alleviate symptoms and reduce swelling, such as antihistamines, nonsteroidal anti-inflammatory drugs (NSAIDs), or corticosteroids. For severe attacks, emergency medical attention may be necessary, potentially including the use of medications called C1-INH concentrates.

In addition to acute treatments, people with HAE may require long-term prophylactic therapy to reduce the frequency and severity of attacks. This can be achieved through the regular administration of medications such as C1-INH concentrates, selective bradykinin receptor antagonists, or other preventive agents.

It is essential for individuals with HAE to work closely with healthcare professionals who specialize in the management of this condition. Developing an individualized treatment plan, recognizing triggers, and managing potential complications are all important aspects of comprehensive care for individuals with HAE. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and potential risks of passing the condition to offspring.

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