Hereditary angioedema (HAE) is a rare, genetic disorder causing recurrent episodes of swelling (angioedema) in various parts of the body. It is characterized by episodes of swelling, most commonly affecting the limbs, face, intestinal tract, and airway. Some patients also have, or only have gastrointestinal symptoms. HAE can manifest early or late in life and diagnosis can be delayed due to symptoms mimicking other conditions. HAE is caused by a deficiency or dysfunction of a protein called C1 inhibitor, which is crucial for regulating inflammation.
“At some point, allergists are involved in managing HAE because during this discovery process, the patient may think their swelling or perhaps their doctor thinks their swelling is from an allergy. And of course, they find out that later it’s an immunological disease.” Dr. Siri, both an allergist and immunologist at MASA+R, shared her experience in the podcast “Simplifying the Science, the Root Cause of HAE.”
Midwest Allergy Sinus Asthma and Respiratory (MASA+R) is the largest combined allergy, immunology, and respiratory practice in central Illinois and is a referral center for managing patients with severe, complex rare medical conditions such as HAE.
Key aspects of hereditary angioedema:
- Inheritance:
HAE is an autosomal dominant disorder, meaning it can be passed down from parent to child.
- Triggers:
Minor trauma, stress, or even surgery can trigger an attack, but swelling can also occur without a known cause.
- Symptoms:
HAE attacks can cause swelling in various areas, including the hands, feet, limbs, face, intestines, and airway. Swelling in the intestinal tract can cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can lead to life-threatening obstruction.
- Types:
HAE is broadly classified into two types, but each unique patient has a unique genetic mutation that manifests in the similar symptoms of HAE as those of other patients.
- Treatment:
Acute attacks can be treated with medications like C1 inhibitor replacement therapy or kallikrein inhibitors. Long-term prevention may involve medications. Tailored action-plan for self-treat/self-care may also be developed by providers, specialist, and the patient to improve quality of life of those with less access to a tertiary medical facility.
Why diagnosing and treating HAE is important:
- Life-threatening:
Swelling in the airway can be dangerous and require immediate medical attention.
- Impact on quality of life:
Frequent and painful attacks can significantly impact a person’s daily life.
- Diagnosis challenges:
Because HAE is rare and symptoms can mimic other conditions, diagnosis can be delayed. Diagnosis of HAE usually requires collaboration between specialized medical centers and local providers.
- Treatment advances:
New therapies have improved the management of HAE, allowing for better prevention and treatment of attacks.
