What's hereditary angioedema?
Hereditary angioedema is a genetic condition that causes repeated episodes of swelling deep under the skin and in the body's internal linings. The swelling is usually driven by a natural body chemical called bradykinin, and attacks that affect the throat (laryngeal edema) can be life-threatening.
| Also indexed as | OMIM:106100, MONDO:0033946 |
|---|---|
| Features mapped | 10 |
| Treatments mapped | 7 |
| Published sources | 13 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Decreased circulating C1-esterase inhibitor concentration
In the most common forms of HAE, the C1 inhibitor protein is missing or does not work properly. A blood test showing low C1 inhibitor function is a key way to confirm the diagnosis.
Decreased circulating complement C4 concentration
Blood levels of a complement protein called C4 are usually low in HAE. A low C4 result is one of the standard tests used to help confirm the diagnosis.
Laryngeal edema
Swelling can affect the throat and voice box (laryngeal edema). This is the most serious type of HAE attack because it carries a lifelong risk of becoming life-threatening, so it needs urgent treatment.
Intestinal edema
Swelling of the intestinal wall during an attack can produce painful abdominal episodes, sometimes with cramping, vomiting, or diarrhea, and may mimic a surgical emergency in hereditary angioedema.
Angioedema
Angioedema means episodes of swelling deep under the skin and in the linings of the body. In HAE these swelling episodes come and go and are the central feature of the condition.
Pharyngeal edema
Swelling of the throat and voice box (laryngeal involvement) is the most dangerous form of a hereditary angioedema attack because it can close off the airway and is potentially life-threatening.
Autosomal dominant inheritance
HAE is usually passed down in an autosomal dominant pattern, which means a single altered copy of the gene is enough to cause it, and each child of an affected parent has about a 50% chance of inheriting it.
Periorbital edema
Attacks frequently cause swelling of the face, including around the eyes and lips, which builds over hours and then resolves on its own in hereditary angioedema.
Vomiting
Abdominal attacks can bring on nausea and vomiting alongside the belly pain.
Abdominal pain
HAE attacks can involve the abdomen. Swelling in the gut wall may bring on recurring episodes of belly pain, which can be severe.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
C1-inhibitor (C1-INH) concentrate
C1-inhibitor concentrate is a targeted treatment for hereditary angioedema. It replaces the missing C1-inhibitor protein, the underlying deficiency that drives attacks.
Used to help with: Angioedema, hereditary, 1.
“By contrast, several targeted, effective therapies are available, including C1-inhibitor (C1-INH) concentrates, which replace the missing protein activity underlying some bradykinin-mediated AE, and medications that directly lessen bradykinin activity (eg, ecallantide and icatibant).”
Lanadelumab
Lanadelumab is a long-term preventive (prophylactic) treatment for hereditary angioedema. It is a monoclonal antibody that blocks plasma kallikrein, an enzyme that triggers attacks.
Used to help with: Angioedema, hereditary, 1.
“Acute treatment with Berinert was successful, and the patient was later placed on long-term prophylaxis with lanadelumab, which is a monoclonal antibody that inhibits Kallikrein.”
Garadacimab
Garadacimab is a newer monoclonal antibody approved for long-term prevention of hereditary angioedema attacks. It blocks activated factor XII (FXIIa), an early trigger in the attack pathway.
Used to help with: Angioedema, hereditary, 1.
“The anti-FXIIa monoclonal antibody garadacimab is approved for long-term prophylaxis against HAE attacks.”
Icatibant
Icatibant is an on-demand treatment used to stop an active hereditary angioedema attack. It works by directly lessening bradykinin activity, the mediator behind the swelling.
Used to help with: Angioedema, hereditary, 1.
“By contrast, several targeted, effective therapies are available, including C1-inhibitor (C1-INH) concentrates, which replace the missing protein activity underlying some bradykinin-mediated AE, and medications that directly lessen bradykinin activity (eg, ecallantide and icatibant).”
Ecallantide
Ecallantide is an on-demand treatment used to stop an active hereditary angioedema attack. It is a plasma kallikrein inhibitor, blocking the enzyme that drives the swelling.
Used to help with: Angioedema, hereditary, 1.
“The peptide also exerted comparable anti-ischemic stroke effects to those of ecallantide (DX-88), a kallikrein inhibitor approved for the treatment of hereditary angioedema, in a mouse model of transient middle cerebral artery occlusion.”
Sebetralstat
Sebetralstat (Ekterly) is the first pill taken on-demand to treat a hereditary angioedema attack. It is an oral plasma kallikrein inhibitor, recently approved for acute attacks in people aged 12 and older.
Used to help with: Angioedema, hereditary, 1.
“The recent FDA approval of Ekterly (sebetralstat), the first orally administered plasma kallikrein inhibitor for acute HAE attacks in patients aged 12 years and older, represents a landmark shift in the management of this rare disorder.”
Berotralstat
Berotralstat is a once-daily pill taken to prevent hereditary angioedema attacks (long-term prophylaxis). It is an oral plasma kallikrein inhibitor.
Used to help with: Angioedema, hereditary, 1.
“Berotralstat is an oral, small-molecule plasma kallikrein inhibitor, approved as prophylaxis of HAE attacks in patients aged 12 years or older.”
How to read the evidence labels
Where this comes from
This guide is built from 13 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.