About Hereditary Angioedema

What is Hereditary Angioedema?

Hereditary angioedema (HAE) is a rare, inherited disorder that causes episodes of swelling in different parts of the body. The swelling can occur in the hands, feet, face, intestinal tract, and airway. Symptoms of HAE can range from mild to severe and can be life-threatening. HAE is caused by a genetic mutation that affects the production of a protein called C1-esterase inhibitor, which helps regulate the body’s immune system. Treatment for HAE includes medications to reduce swelling and prevent future episodes, as well as lifestyle changes to reduce stress and triggers.

What are the symptoms of Hereditary Angioedema?

The symptoms of Hereditary Angioedema (HAE) vary from person to person, but typically include:

- Swelling of the face, hands, feet, and/or abdomen
- Swelling of the tongue and/or throat, which can cause difficulty breathing
- Abdominal pain, nausea, and vomiting
- Skin Hives or itching
- Joint pain
- Fatigue

What are the causes of Hereditary Angioedema?

Hereditary angioedema (HAE) is caused by a genetic mutation that affects the C1 inhibitor (C1-INH) gene. This gene mutation results in a deficiency of C1-INH, which is a protein that helps regulate the body’s immune system. Without enough C1-INH, the body’s immune system can become overactive and cause swelling in the skin and other tissues. HAE can also be caused by a mutation in the F12 gene, which is responsible for producing a protein called coagulation factor XII. This mutation can also lead to a deficiency of C1-INH.

What are the treatments for Hereditary Angioedema?

1. Antifibrinolytic medications such as tranexamic acid and epsilon aminocaproic acid
2. Corticosteroids such as prednisone
3. Antihistamines such as diphenhydramine
4. Immunomodulators such as omalizumab
5. Plasma-derived C1-inhibitor concentrate
6. Recombinant C1-inhibitor concentrate
7. Androgens such as danazol
8. Kallikrein inhibitors such as icatibant and ecallantide
9. Stanozolol
10. Fresh frozen plasma

What are the risk factors for Hereditary Angioedema?

1. Family history of Hereditary Angioedema
2. Genetic mutations in the C1-inhibitor gene
3. Age (most common in children and young adults)
4. Gender (more common in males)
5. Certain medications (ACE inhibitors, beta-blockers, and angiotensin-converting enzyme inhibitors)
6. Allergies or sensitivities to certain foods or medications
7. Stress or emotional triggers
8. Exposure to cold temperatures or water

Is there a cure/medications for Hereditary Angioedema?

Yes, there are medications available to treat Hereditary Angioedema (HAE). These medications include C1-inhibitor (C1-INH) replacement therapy, antifibrinolytic agents, and androgens. C1-INH replacement therapy is the most common treatment for HAE and involves replacing the missing or deficient C1-INH protein in the body. Antifibrinolytic agents, such as tranexamic acid, are used to reduce the breakdown of blood clots and can help reduce the severity of HAE attacks. Androgens, such as danazol, are used to reduce the production of bradykinin, a substance that can cause swelling in HAE patients.