A number sign (#) is used with this entry because hereditary angioedema types I and II are caused by heterozygous mutation in the C1 inhibitor gene (C1NH. Download Citation on ResearchGate | Angioedema hereditario | Hereditary angioedema is a rare disease of genetic origin that is characterized by recurrent . Request PDF on ResearchGate | On Feb 26, , Teresa Caballero Molina and others published Angioedema hereditario.
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Only comments written in English can be processed. Onset may occur at any age but is most common during childhood or adolescence.
Patients present with white, circumscribed nonpruritic edemas that remain for a period of 48 to 72 hours and recur with variable frequency. Edemas may involve the digestive tract resulting in a clinical picture similar to that seen in intestinal occlusion syndrome, sometimes associated with ascites and hypovolemic shock. Dental procedures are a triggering factor for laryngeal edema. Edemas of the face are a risk factor for laryngeal involvement.
Three types of HAE have been described. Transmission is autosomal dominant and most cases involve heterozygotes.
The edemas are triggered by increased anngioedema of the blood vessels in response to elevated levels of bradykinin as a result of the C1-INH deficiency. HAE type 3 predominantly involves females, with the use of estrogen-containing oral contraceptives and pregnancy being precipitating factors.
HAE type 3 is not caused by C1-INH deficiency but is associated with an increase in kininogenase activity leading to elevated levels of bradykinin. Some cases are associated with coagulation factor 12 Hageman factor; F12 ; 5qqter gain-of-function mutations but other genetic anomalies remain to be identified.
OMIM Entry – # – ANGIOEDEMA, HEREDITARY, TYPE I; HAE1
The differential diagnosis should include acquired angioedema see this termintestinal occlusion syndrome and histamine-induced angioedema of allergenic or nonallergenic origin generally associated with urticaria.
Screening of family members, including asymptomatic individuals, is recommended. Corticosteroid treatments are not effective. In Europe, acute attacks should be treated with subcutaneous icatibant a bradykinin receptor antagonist or intravenous administration of C1-INH concentrate.
Prophylactic treatment with tranexamic acid or danazol may be proposed for patients with frequent episodes.
The vital prognosis is good for patients who have been diagnosed and have access to the proper treatment in case of an ear-nose-throat ENT edema. Significant morbidity may be associated with digestive involvement resulting in pain and patients becoming bedridden for hereditairo least three days following an episode. Other search option s Alphabetical list.
Summary and related texts. Check this box if you wish to receive a copy of your message. Familial angioneurotic edema HAE Hereditary angioneurotic edema Hereditary bradykinine-induced angioedema Hereditary non histamine-induced angioedema Prevalence: Clinical description Onset may occur at any age but is most common during childhood or adolescence.
Etiology Three types of HAE have wngioedema described. Differential diagnosis The differential diagnosis should include acquired angioedema see this termintestinal occlusion syndrome and histamine-induced angioedema of allergenic or nonallergenic origin generally associated with urticaria.
Management and treatment Corticosteroid treatments are not effective. Prognosis The vital prognosis is good for patients who have been diagnosed and have access to the proper treatment in case of an ear-nose-throat ENT edema.
Detailed information Article for general public Svenska Health care resources for this disease Expert centres 92 Diagnostic tests 54 Patient organisations 36 Orphan drug s Specialised Social Services Eurordis directory. The documents contained in heereditario web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.