About Hereditary angioedema type 1

What is Hereditary angioedema type 1?

Hereditary angioedema type 1 (HAE1) is a rare, inherited disorder that causes episodes of swelling in the face, extremities, gastrointestinal tract, and airway. It is caused by a deficiency of the C1 esterase inhibitor protein, which is responsible for regulating the activity of certain enzymes in the body. Symptoms of HAE1 can include swelling of the face, tongue, and throat, abdominal pain, nausea, vomiting, and difficulty breathing. Treatment for HAE1 typically involves the use of medications to reduce the frequency and severity of attacks.

What are the symptoms of Hereditary angioedema type 1?

The symptoms of Hereditary angioedema type 1 (HAE1) can vary from person to person, but typically include:

- Swelling of the face, tongue, hands, feet, and/or abdomen

- Abdominal pain

- Nausea and vomiting

- Difficulty breathing

- Hives or itchy skin

- Anxiety or panic attacks

- Fatigue

- Joint pain

- Fever

- Swollen lymph nodes

What are the causes of Hereditary angioedema type 1?

Hereditary angioedema type 1 (HAE type 1) is caused by a mutation in the SERPING1 gene, which is responsible for producing the C1-esterase inhibitor (C1-INH) protein. This protein helps regulate the activity of certain enzymes in the body, including those involved in the immune system. Without enough C1-INH, the body is unable to control the activity of these enzymes, leading to an increase in inflammation and swelling.

What are the treatments for Hereditary angioedema type 1?

1. Antifibrinolytic medications: These medications help to reduce the swelling by blocking the breakdown of blood clots. Examples include tranexamic acid and epsilon aminocaproic acid.

2. C1-inhibitor concentrate: This is a medication that helps to replace the missing C1-inhibitor protein in the body.

3. Corticosteroids: These medications help to reduce inflammation and swelling. Examples include prednisone and methylprednisolone.

4. Antihistamines: These medications help to reduce the itching and hives associated with Hereditary angioedema type 1. Examples include diphenhydramine and cetirizine.

5. Immunomodulators: These medications help to reduce the frequency and severity of attacks. Examples

What are the risk factors for Hereditary angioedema type 1?

1. Family history of Hereditary angioedema type 1
2. Being male
3. Having a mutation in the C1 inhibitor gene
4. Having a weakened immune system
5. Having certain medications or infections that can trigger an attack
6. Having a history of allergies or asthma

Is there a cure/medications for Hereditary angioedema type 1?

Yes, there are medications available to treat Hereditary Angioedema Type 1 (HAE Type 1). These medications include C1-inhibitor (C1-INH) replacement therapy, antifibrinolytic agents, and kallikrein inhibitors. C1-INH replacement therapy is the most common treatment for HAE Type 1 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. Kallikrein inhibitors, such as icatibant and ecallantide, are used to block the release of bradykinin, a chemical that causes swelling in HAE.