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Living with HAE (C1-INH)

Information, shared experiences and research connections for people living with HAE (C1-INH) and those who support them.

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Understanding HAE (C1-INH)

Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare inherited condition that causes repeated episodes of serious swelling under the skin or in the lining of the gut and airway, without hives.

It is caused by changes in the SERPING1 gene that lead to low or poorly working C1 inhibitor protein. It often runs in families, and symptoms usually begin in childhood and may get worse around puberty.

Signs & symptoms

Swelling attacks can affect different parts of the body and sometimes happen without a clear trigger.

  • Swelling of the face, hands, feet, limbs or genitals
  • Severe belly pain, nausea, vomiting or diarrhea
  • Throat or airway swelling that can make breathing hard
  • Swelling that is not itchy and comes without hives
  • A non-itchy rash during some attacks

Tell your care team about new or changing symptoms.

Diagnosis

  1. Health and family history

    Your provider asks about past swelling attacks or belly pain episodes and whether relatives have had similar problems.

  2. Blood tests

    Blood tests can check C1 inhibitor levels and complement C4 levels, which are often low in this condition.

  3. Genetic testing

    Testing for changes in the SERPING1 gene may help confirm the diagnosis; ask your care team whether it is right for you.

Care & treatment

Specialist care
Allergists and immunologists are among the specialists who help diagnose and manage this condition.
Emergencies
Throat or airway swelling, or any trouble breathing, needs emergency care right away.
Your plan
Work with your care team on what to do when an attack starts and how to lower the chance of future attacks.

Discuss benefits, risks and follow-up with your care team.

Everyday life

Knowing your patterns can help you and your team plan ahead.

  • Keep a diary of attacks: the date, body area, how long it lasted and any possible trigger, such as stress or a minor injury.
  • Bring an up-to-date list of your medicines and your medical history to every appointment.
  • Share your family health history, since this condition often runs in families.
Bring these questions to your next doctor visit
What should I do if swelling starts in my throat or I have trouble breathing?
Should my family members be tested?
What is my plan for treating attacks, and do I need a plan before medical or dental procedures?
Sources: NIH GARD — HAE with C1-INH deficiency · MedlinePlus Genetics — Hereditary angioedema · MedlinePlus Encyclopedia — AngioedemaPage drafted from NIH sources · Know Rare editorial review pending. General information to support conversations with your care team.

You are more than your diagnosis

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  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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