Hereditary Angioedema (HAE) is a rare and often misunderstood genetic disorder. It can cause recurrent episodes of severe swelling in different parts of the body, including the skin, gastrointestinal tract, and airways. Here, we address some of the most frequently asked questions about HAE to help patients, families, and caregivers better understand this condition.

What Is Hereditary Angioedema (HAE)?

Hereditary Angioedema is a genetic disorder characterized by recurrent episodes of severe swelling (angioedema). This swelling can occur in various parts of the body, most commonly the extremities, face, gastrointestinal tract, and airway. HAE is caused by a deficiency or dysfunction of the C1 inhibitor protein, which helps control inflammation.

What Are the Symptoms of HAE?

The symptoms of HAE can vary but typically include:

• Swelling of the Extremities: Hands and feet can become swollen, making it difficult to perform everyday tasks.
• Facial Swelling: This can affect areas around the eyes and lips, causing significant discomfort and disfigurement.
• Abdominal Pain: Swelling in the gastrointestinal tract can cause severe pain, cramping, nausea, vomiting, and diarrhea.
• Throat Swelling: This is particularly dangerous as it can lead to airway obstruction, making it difficult to breathe and requiring immediate medical attention.
• Skin Rash: Some patients may develop a non-itchy rash called erythema marginatum before an attack.

How Is HAE Diagnosed?

Diagnosing HAE involves a combination of clinical evaluation, family history, and specific laboratory tests:

• Family History: Since HAE is a genetic disorder, having a family member with the condition can be a significant indicator.
• Clinical Evaluation: Doctors will assess symptoms and the frequency of swelling episodes.
• Blood Tests: These tests measure the levels and function of C1 inhibitor protein and other complement components such as C4 and C1q.

What Triggers HAE Attacks?

Several factors can trigger HAE attacks, including:

• Stress: Both physical and emotional stress can trigger an episode.
• Trauma or Injury: Any physical trauma, including surgery or dental procedures, can precipitate an attack.
• Hormonal Changes: Menstrual cycles, pregnancy, and certain contraceptives can trigger symptoms.
• Medications: ACE inhibitors and some other medications can induce HAE attacks.
• Infections: Common illnesses and infections can also act as triggers.

Is There a Cure for HAE?

There is currently no cure for Hereditary Angioedema. However, effective treatments are available to manage and prevent attacks. These include on-demand treatments for acute attacks and prophylactic treatments to reduce the frequency and severity of episodes. If you want to be considered for HAE clinical trials, join our registry here. 

What Are the Treatment Options for HAE?

Treatment for HAE focuses on managing symptoms and preventing attacks:

• On-Demand Treatments: These include C1 inhibitors, bradykinin receptor antagonists (icatibant), and kallikrein inhibitors (ecallantide) to treat acute attacks.
• Prophylactic Treatments: Long-term preventive therapies include regular infusions of C1 inhibitors, androgens (such as danazol), or antifibrinolytics (tranexamic acid).
• Emergency Care: Immediate medical attention is crucial for throat swelling to prevent airway obstruction.

Can Lifestyle Changes Help Manage HAE?

While lifestyle changes cannot prevent HAE attacks, they can help manage the condition and reduce triggers:

• Avoid Triggers: Identifying and avoiding known triggers such as stress, certain medications, and trauma can help.
• Healthy Lifestyle: Regular exercise, a balanced diet, and stress management techniques can support overall health.
• Medical Alert: Wearing a medical alert bracelet and having an emergency action plan can ensure prompt treatment during an attack.

What Is the Prognosis for Someone with HAE?

With proper management and treatment, individuals with HAE can lead normal, healthy lives. The prognosis depends on the frequency and severity of attacks and adherence to treatment plans. Regular follow-up with healthcare providers is essential for optimal management.

How Can I Find Support and Resources for HAE?

Support and resources for HAE are available through various channels:

• Patient Organizations: Groups such as the US Hereditary Angioedema Association (HAEA) provide information, support, and advocacy.
• Healthcare Providers: Specialists in immunology or genetics can offer personalized care and management plans.
• Online Communities: Forums and social media groups where patients and families share experiences and support. Visit our website here for additional resources. 

Understanding Hereditary Angioedema is crucial for managing the condition effectively. By staying informed and working closely with healthcare providers, individuals with HAE can achieve better outcomes and improve their quality of life. If you have more questions or need further information about HAE, consult your healthcare provider or visit reputable medical websites and patient organizations.