Hereditary Angioedema: What You Need to Know
If you’ve ever wondered why some people swell up without an allergic reaction, hereditary angioedema (HAE) is the likely culprit. It’s a rare, genetic condition that makes the body release too much bradykinin – a chemical that relaxes blood vessels and causes fluid to leak into tissues. The result? Sudden, painful swelling in the face, lips, throat, hands or even the gut.
HAE isn’t something you catch; you inherit it from a parent who carries a faulty gene for C1‑inhibitor protein. Without enough functional C1‑INH, the bradykinin pathway runs out of control. That’s why family history is a big red flag when doctors suspect HAE.
Recognising the Signs
The swelling episodes can last anywhere from a few hours to several days and often come with no itch or rash, which sets them apart from typical allergic reactions. Common spots include:
- Lips and tongue – this can be scary because it might block your airway.
- Face and eyes – you’ll notice puffiness that doesn’t respond to antihistamines.
- Hands, feet or genitals – the swelling feels tight and painful.
- Abdominal cavity – cramping, nausea and vomiting are common when the gut swells.
A key clue is that attacks often start after minor trauma, dental work, stress or hormonal changes. If you’ve had several unexplained episodes of swelling, especially in a family line, it’s worth asking for a C1‑INH test.
Treatment Paths That Work
Because antihistamines and steroids rarely help HAE, the treatment plan focuses on replacing or boosting the missing C1‑inhibitor. Here are the main options doctors use today:
- C1‑INH concentrate: This is plasma‑derived or recombinant protein you inject at the first sign of an attack. It’s fast‑acting and can shrink swelling within an hour.
- Icatibant (Firazyr): A synthetic peptide that blocks bradykinin receptors, stopping the leak in the blood vessels. It’s taken under the tongue and works well for throat attacks.
- Lanadelumab (Takhzyro): A monthly self‑administered injection used as long‑term prophylaxis. Many patients report far fewer attacks after starting it.
- Berinert, Haegarda, and Cinryze: Different brand names for C1‑INH products, each with its own dosing schedule.
If you’re prone to frequent episodes, doctors may suggest daily prophylaxis with one of the above or a newer oral medication that’s still in trials. Lifestyle tweaks also help: avoid known triggers, keep a travel kit of your rescue meds, and wear a medical alert bracelet.
When an attack involves the throat, treat it as an emergency. Call 999 (or local emergency services) right away because airway blockage can happen quickly. Even if you have medication at home, professional help is essential.
Getting diagnosed early makes life a lot easier. Genetic testing confirms the faulty SERPING1 gene in most cases, and once you know your status, you can plan treatment with a specialist who understands HAE.
Bottom line: hereditary angioedema may feel unpredictable, but modern therapies let most people live normally. Keep an eye on symptoms, talk to your doctor about C1‑INH testing, and have rescue medication ready. With the right plan, you’ll stop letting sudden swelling control your life.
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