About Hereditary angioedema with C1Inh deficiency

What is Hereditary angioedema with C1Inh deficiency?

Hereditary angioedema with C1Inh deficiency (HAE with C1Inh deficiency) 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 a protein called C1 inhibitor (C1Inh), which is responsible for regulating the activity of certain enzymes in the body. During an attack, the body produces too much of these enzymes, leading to swelling. Symptoms of HAE with C1Inh deficiency can range from mild to severe and can be life-threatening if the airway is affected. Treatment typically involves medications to reduce the frequency and severity of attacks, as well as lifestyle modifications to reduce the risk of triggers.

What are the symptoms of Hereditary angioedema with C1Inh deficiency?

The symptoms of Hereditary angioedema with C1Inh deficiency can vary from person to person, but typically include:

- Swelling of the face, tongue, and/or throat
- Abdominal pain, nausea, and vomiting
- Difficulty breathing
- Hives or itchy skin
- Swelling of the hands, feet, and/or joints
- Fatigue
- Anxiety or depression
- Joint pain
- Headache

What are the causes of Hereditary angioedema with C1Inh deficiency?

Hereditary angioedema with C1Inh deficiency is caused by a genetic mutation that affects the production of C1Inh, a protein that helps regulate the immune system. This mutation can be inherited from either parent, and is most commonly seen in people of European descent. Other causes of C1Inh deficiency include autoimmune diseases, certain medications, and infections.

What are the treatments for Hereditary angioedema with C1Inh deficiency?

1. Replacement therapy with C1-inhibitor concentrate: This is the most common treatment for hereditary angioedema with C1-inhibitor deficiency. It involves replacing the missing C1-inhibitor with a concentrate made from donated human plasma.

2. Antifibrinolytic agents: These drugs help to reduce the breakdown of blood clots, which can help to reduce the severity of attacks.

3. Corticosteroids: These drugs can help to reduce inflammation and swelling.

4. Immunomodulators: These drugs can help to reduce the frequency and severity of attacks.

5. Antihistamines: These drugs can help to reduce the symptoms of itching and hives.

6. Allergen immunotherapy: This involves exposing the patient to small amounts of the aller

What are the risk factors for Hereditary angioedema with C1Inh deficiency?

1. Family history of Hereditary angioedema with C1Inh deficiency
2. Age (onset is usually before age 20)
3. Gender (more common in males)
4. Ethnicity (more common in Caucasians)
5. Genetic mutations in the SERPING1 gene
6. Exposure to certain medications or foods that can trigger an attack

Is there a cure/medications for Hereditary angioedema with C1Inh deficiency?

Yes, there are medications available to treat hereditary angioedema with C1Inh deficiency. These medications include C1-inhibitor (C1-INH) replacement therapy, antifibrinolytic agents, and kallikrein inhibitors. Additionally, lifestyle modifications such as avoiding triggers, eating a healthy diet, and managing stress can help reduce symptoms.