Hereditary angioedema with normal C1Inh not related to F12 or PLG variant is a rare form of hereditary angioedema (HAE) that is caused by a mutation in the gene that codes for C1 inhibitor (C1Inh). This mutation results in a deficiency of C1Inh, which is responsible for controlling the activity of certain proteins in the body that are involved in inflammation and blood clotting. Patients with this form of HAE typically experience recurrent episodes of swelling in the face, extremities, and airway, which can be life-threatening if not treated promptly.

The symptoms of Hereditary angioedema with normal C1Inh not related to F12 or PLG variant include:

- Swelling of the face, lips, tongue, and throat
- Swelling of the hands, feet, and other parts of the body
- Abdominal pain
- Nausea and vomiting
- Diarrhea
- Difficulty breathing
- Coughing
- Wheezing
- Hives
- Itching
- Fatigue
- Anxiety and depression
- Joint pain
- Muscle pain

1. Mutations in the SERPING1 gene, which encodes C1-inhibitor (C1-INH).

2. Mutations in the F12 gene, which encodes coagulation factor XII.

3. Mutations in the PLG gene, which encodes plasminogen.

4. Mutations in the HAE2 gene, which encodes a protein involved in the regulation of the complement system.

5. Mutations in the F13A1 gene, which encodes coagulation factor XIII A-subunit.

6. Mutations in the F13B gene, which encodes coagulation factor XIII B-subunit.

7. Mutations in the F11 gene, which encodes coagulation factor XI.

8.

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
8. Androgens: Danazol, stanozolol

1. Family history of Hereditary angioedema (HAE)
2. Female gender
3. Age of onset before 20 years
4. History of abdominal attacks
5. History of laryngeal attacks
6. History of facial swelling
7. History of recurrent episodes
8. History of skin lesions
9. History of recurrent urticaria
10. History of recurrent angioedema
11. History of recurrent joint pain
12. History of recurrent abdominal pain
13. History of recurrent headaches
14. History of recurrent vomiting
15. History of recurrent diarrhea
16. History of recurrent respiratory symptoms
17. History of recurrent fever
18. History of recurrent infections
19. History of recurrent sinusitis
20. History of recurrent otitis media
21. History of recurrent pharyngitis

Yes, there are medications available to treat hereditary angioedema with normal C1Inh not related to F12 or PLG variant. These medications include androgens (such as danazol and stanozolol), antifibrinolytics (such as tranexamic acid and epsilon aminocaproic acid), and C1-inhibitor concentrate. Additionally, some patients may benefit from immunomodulators (such as omalizumab and icatibant) and kallikrein inhibitors (such as ecallantide and icatibant).