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Understanding Hereditary Angioedema (HAE): A Patient Guide

RyAnBy Updated:5 Mins Read

Hereditary angioedema (HAE) is a rare genetic condition that causes episodes of severe swelling in different parts of the body. This guide explains the condition, its causes, symptoms, treatments, and how to manage living with it.

What is Hereditary Angioedema?

Hereditary angioedema is a condition that leads to sudden and severe swelling (angioedema) in areas such as the skin, gastrointestinal tract (stomach and intestines), and airways. Unlike typical allergic reactions, HAE does not cause itching or hives. It is caused by a problem with a protein in your blood called C1-inhibitor, which helps regulate inflammation and swelling.

There are three types of HAE:

  • Type 1: The most common form, where there is a low level of C1-inhibitor protein.
  • Type 2: In this type, the C1-inhibitor protein is present but does not work properly.
  • Type 3: Rare and not linked to C1-inhibitor deficiency; it is often triggered by hormonal changes or certain medications.

Background on Hereditary Angioedema

  • History: HAE was first recognised in the late 19th century, but advances in understanding its genetic basis have only occurred in recent decades.
  • Global Impact: While rare, HAE significantly affects quality of life due to its unpredictable and potentially life-threatening attacks.

Causes, Incidence, and Prevalence

Causes

HAE is caused by mutations in the SERPING1 gene, which provides instructions for making the C1-inhibitor protein. Without enough functional C1-inhibitor, your body cannot properly regulate swelling and inflammation. The condition is inherited in an autosomal dominant pattern, meaning you only need one copy of the faulty gene from either parent to develop HAE.

Incidence and Prevalence

  • Incidence: HAE affects approximately 1 in 50,000 people worldwide.
  • Prevalence:I t occurs equally across all ethnic groups but may be underdiagnosed due to its rarity and similarity to other conditions like allergies or autoimmune diseases.

Who is Affected?

  1. Age of Onset: Symptoms often begin in childhood or adolescence but can appear at any age.
  2. Gender: Both males and females are affected equally; however, hormonal changes (e.g., during puberty or pregnancy) can worsen symptoms in women.

Geographic Distribution

HAE occurs globally without significant differences in prevalence between regions.

How Does Hereditary Angioedema Impact You?

Symptoms

Symptoms of HAE vary widely but often include:

  • Swelling in the hands, feet, face, or genitals.
  • Abdominal pain, nausea, vomiting, or diarrhoea due to swelling in the stomach or intestines.
  • Swelling in the throat (laryngeal oedema), which can block your airway and become life-threatening if untreated.

Attacks are unpredictable and may last 2–5 days without treatment. Triggers include stress, infections, minor injuries, hormonal changes, or certain medications like ACE inhibitors.

Living With Hereditary Angioedema

Living with HAE requires careful management to avoid triggers and treat attacks promptly. The condition can affect daily activities, work, relationships, and mental health due to its unpredictability.

Expected Life Expectancy

With proper diagnosis and treatment, most individuals with HAE live normal lifespans. However, untreated throat swelling can be fatal.

Managing and Treating Hereditary Angioedema

Available Treatments

While there is no cure for HAE, treatments focus on preventing attacks and relieving symptoms during an episode:

  1. Preventive (Prophylactic) Treatments:
    1. C1-Inhibitor Replacement Therapy: Regular infusions of C1-inhibitor protein help prevent attacks (e.g., Cinryze).
    2. Lanadelumab: A monoclonal antibody given as an injection every few weeks to reduce attack frequency.
    3. Androgens: Medications like danazol may be used to increase C1-inhibitor levels but are less commonly prescribed due to side effects.
  1. On-Demand Treatments:
    1. C1-Inhibitor Concentrates: Administered during an attack to stop swelling quickly (e.g., Berinert).
    2. Icatibant: A bradykinin receptor blocker given as an injection to reduce swelling during an attack.
    3. Ecallantide: A kallikrein inhibitor that helps control swelling during acute episodes.
  1. Lifestyle Adjustments:&nbsp
    1. Avoid known triggers such as stress or certain medications.
    2. Inform healthcare providers about your condition before surgeries or dental procedures.

Ongoing Clinical Research

Research into HAE continues to explore new therapies aimed at improving outcomes for patients:

  • Gene Therapy: Investigating ways to correct mutations in the SERPING1 gene permanently.
  • Longer-Acting Therapies: Trials are underway for treatments that require less frequent dosing.
  • Biomarker Studies: Efforts are being made to identify markers that predict attack severity or response to treatment.
  • For information on clinical trials related to HAE, visit gov.

Support Groups and Resources

If you have been diagnosed with hereditary angioedema or suspect you may have it, connecting with support groups can provide valuable information and emotional support:

  1. HAE UK (org)– Offers resources for patients living with hereditary angioedema in the UK.
  2. HAE International (HAEi) (org) – Provides global advocacy for individuals with hereditary angioedema.
  3. US Hereditary Angioedema Association (HAEA) (org)– Focuses on education and support for people affected by HAE.
  4. Rare Disease UK (org.uk) – Supports individuals living with rare conditions like hereditary angioedema.Remember:

    This information is intended for general knowledge and educational purposes only and does not constitute medical advice. It is essential to consult with a qualified healthcare professional for any health concerns or before making any decisions related to your health or treatment.

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