What is Hereditary Angioedema (HAE)?
Hereditary Angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of swelling beneath the skin and/or mucosal surfaces. It is caused by a deficiency or dysfunction of a protein called C1 esterase inhibitor (C1-INH), which plays a crucial role in regulating the body's immune response and preventing excessive inflammation. HAE is inherited in an autosomal dominant pattern, meaning that a person with one affected gene has a 50% chance of passing the condition on to each of their children.
Globally, it is estimated that HAE affects approximately 1 in 50,000 to 1 in 150,000 individuals.
What Are the Symptoms Associated with Hereditary Angioedema (HAE)?
The main symptom of HAE is recurrent episodes of swelling, which can occur anywhere in the body but commonly affect the face, extremities, gastrointestinal tract, and airway. The swelling can be sudden, painful, and may last for a few days. It is often unpredictable and can be triggered by stress, trauma, hormonal changes, infections, or certain medications. In some cases, swelling in the airway can be life-threatening and requires immediate medical attention. Other symptoms that may occur during an HAE attack include abdominal pain, nausea, diarrhea, and vomiting.
How is Hereditary Angioedema (HAE) Diagnosed?
Diagnosing HAE can be challenging due to its rarity and similarity of symptoms with other conditions. A thorough medical history, physical examination, and specialized laboratory tests are necessary for an accurate diagnosis. These tests may include measuring the levels and activity of C1-INH, as well as other complement proteins. Genetic testing can also be performed to identify specific mutations in the genes related to HAE. It is crucial to consult with a physician experienced in diagnosing and managing HAE to ensure a proper evaluation.
What Are the Treatment Options for Hereditary Angioedema (HAE)?
Management of HAE aims to prevent and control the frequency and severity of attacks. There are three main approaches to HAE treatment: on-demand therapy, short-term prophylaxis, and long-term prophylaxis. On-demand therapy involves the administration of medications, such as C1-INH concentrate or specific bradykinin receptor antagonists, during an acute attack to relieve symptoms and minimize the duration of swelling. Short-term prophylaxis involves the use of similar medications prior to known triggers or high-risk situations to prevent attacks. Long-term prophylaxis may be recommended for individuals experiencing frequent and severe attacks, and it typically involves regular administration of preventive medications (e.g., attenuated androgens or monoclonal antibodies). It is important for individuals with HAE to work closely with their healthcare providers to develop personalized treatment plans based on the frequency and severity of their attacks.
