About Hereditary angioedema with normal C1Inh

What is Hereditary angioedema with normal C1Inh?

Hereditary angioedema with normal C1Inh (C1 inhibitor) is a rare genetic disorder that causes recurrent episodes of swelling in the face, extremities, gastrointestinal tract, and airway. It is caused by a deficiency or dysfunction of C1 inhibitor, a protein that helps regulate the body's immune system. Symptoms can range from mild to severe and can be life-threatening if the airway is affected. Treatment typically involves medications to reduce swelling and prevent future episodes.

What are the symptoms of Hereditary angioedema with normal C1Inh?

The symptoms of Hereditary angioedema with normal C1Inh include:

-Swelling of the face, lips, tongue, throat, hands, feet, and other parts of the body
-Abdominal pain
-Nausea and vomiting
-Diarrhea
-Difficulty breathing
-Hives or rash
-Itching
-Anxiety and/or panic attacks
-Fatigue
-Joint pain
-Headache

What are the causes of Hereditary angioedema with normal C1Inh?

1. Mutations in the SERPING1 gene, which encodes C1 inhibitor (C1Inh).
2. Mutations in the F12 gene, which encodes coagulation factor XII.
3. Mutations in the F13A1 gene, which encodes coagulation factor XIII A-subunit.
4. Mutations in the PLG gene, which encodes plasminogen.
5. Mutations in the HAE2 gene, which encodes coagulation factor XIIIA.
6. Mutations in the HAE3 gene, which encodes coagulation factor XIII B-subunit.
7. Mutations in the HAE4 gene, which encodes coagulation factor XIII C-subunit.
8. Mutations in the HAE5 gene, which

What are the treatments for Hereditary angioedema with normal C1Inh?

1. Antifibrinolytic agents: Tranexamic acid, epsilon aminocaproic acid
2. C1-inhibitor concentrate: Cinryze, Berinert
3. Kallikrein inhibitors: Icatibant, ecallantide
4. Corticosteroids: Prednisone, methylprednisolone
5. Antihistamines: Diphenhydramine, cetirizine
6. Immunomodulators: Omalizumab
7. Plasma-derived C1-inhibitor: Berinert P

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

1. Family history of Hereditary angioedema with normal C1Inh
2. Female gender
3. Age of onset before 20 years
4. History of recurrent episodes of angioedema
5. Presence of other autoimmune diseases
6. History of allergic reactions
7. Exposure to certain medications or foods
8. Stress or emotional triggers

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

Yes, there are medications available to treat hereditary angioedema with normal C1Inh. These medications include antifibrinolytics (tranexamic acid, epsilon aminocaproic acid), androgens (danazol, stanozolol), and C1-inhibitor concentrate (C1-INH). Additionally, some patients may benefit from immunomodulators (icatibant, ecallantide, and C1-inhibitor concentrate).