Definition
Fortunately rare, hereditary angioedema is one of the potentially deadly genetic diseases: it is a disease that involves the skin, mucous membranes and internal organs, and creates swelling, pain and redness in the injured anatomical site.
Causes
Hereditary angioedema is genetically transmitted, therefore the triggering cause lies in the alteration of a gene, responsible for the functionality of some very important proteins (C1-INH) involved in the regulation of the immune system; in similar situations, the body is not able to guarantee the sufficient quantity of this protein, creating damage.
The altered protein (C1-INH) is implicated in the complex activation of some important mediators of vascular permeability, such as Bradykinin. Patients with hereditary angioedema have high levels of this inflammation factor, a nonapeptide with vasodilatory properties.
Symptoms
Hereditary angioedema causes sudden swelling of the face, legs, arms, extremities, genitals, digestive tract and airway; only rarely is angioedema accompanied by itching and hives. Among the other less recurrent symptoms that hereditary angioedema can cause, we remember strong abdominal cramps and breathing difficulties.
Information on hereditary angioedema - drugs for the treatment of hereditary angioedema is not intended to replace the direct relationship between health professional and patient. Always consult your doctor and / or specialist before taking hereditary Angioedema - Hereditary Angio-edema Medication.
drugs
As analyzed, hereditary angioedema can be transmitted only genetically, therefore no completely resolving cure capable of reversing the pathology has been identified. The goal of the treatment is to prevent or stop the formation of swelling and new edemas, which can seriously endanger the life of the affected patient, especially during the exacerbations of hereditary laryngeal angioedema.
Antihistamines and corticosteroids, effective in the treatment of urticaria and acute angioedema, are completely ineffective in the treatment of hereditary angioedema. In general, some androgen-containing drugs (able to regulate the level of protein in the blood) and some plasma derivatives (containing C1-INH concentrate) from a healthy human donor are used to lighten the symptoms.
- Icatibant (eg Firazyr): the drug blocks bradykinin receptors, relieving edema. The drug, indicated for the control of symptoms of hereditary angioedema in adults, is available as a solution for injection: it is recommended to inject the drug slowly (30 mg), possibly in the abdominal area. If necessary, repeat the application 1-2 times, at 6-hour intervals. Do not exceed three injections within 24 hours.
- Conestat Alfa (eg Ruconest): the C1 esterase inhibitor is used in therapy to treat the symptoms of hereditary angioedema in affected patients aged 18 or over. The drug, administered exclusively by specialists, should be taken for slow intravenous injection over a period of 5 minutes. The dosage should be established based on the patient's body weight. Do not give more than two doses of medication a day; in most cases, a single active dose is sufficient to calm the symptoms.
- C1-Inhibitor (human) (eg Cinryze): it is a protein extracted from the blood of a healthy subject, used in therapy to treat the symptoms of hereditary angioedema, thanks to its ability to inhibit inflammation and edema; in other words, the drug controls the complement and contact systems which, in hereditary angioedema, are carried to excess and are responsible for inflammation. It is recommended to administer the drug starting from the very first symptoms of the disease: approximately, the doctor can inject intravenously 1000 units of active to the affected patient; if the symptoms do not improve within an hour of the administration, it is possible to proceed with an additional dose of active. For prevention, it is recommended to administer the medicine at the just described dosage every 3-4 days.
- Ecallantide (eg Kalbitor): the drug is used in therapy to calm attacks of hereditary angioedema; the active principle is a recombinant inhibitor of kallikrein in plasma (proteolytic enzyme that acts on α-2 globulins, plasma proteins). For adults with hereditary angioedema, it is recommended to take 30 mg of the drug subcutaneously (3 injections of 10 mg each). If the attack persists, add another 30 mg over 24 hours. Even children with hereditary angioedema can take the same dose of medication.
