Hereditary Angioneurotic Edema of the Gastrointestinal Tract

Pearson, Kent D.; Buchignani, John S.; Shimkin, Peter M.; Frank, Michael M.

doi:10.2214/ajr.116.2.256

Cited by 40 publications

(12 citation statements)

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“…Equally, after diagnosis, there is always the concern that true abdominal emergencies will not have surgery performed in good time [4]. Barium studies, carried out during an acute attack, show massive submucosal oedema, spiculation and fold thickening or effacement [22]. The gastrointestinal involvement appears to be segmental and transient with reversion to normal by several days after an attack.…”

Section: Clinicalmentioning

confidence: 99%

C1 inhibitor deficiency: consensus document

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Abinun

et al. 2005

Clinical and Experimental Immunology

379

460

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SummaryWe present a consensus document on the diagnosis and management of C1 inhibitor deficiency, a syndrome characterized clinically by recurrent episodes of angio-oedema. In hereditary angio-oedema, a rare autosomal dominant condition, C1 inhibitor function is reduced due to impaired transcription or production of non-functional protein. The diagnosis is confirmed by the presence of a low serum C4 and absent or greatly reduced C1 inhibitor level or function. The condition can cause fatal laryngeal oedema and features indistinguishable from gastrointestinal tract obstruction. Attacks can be precipitated by trauma, infection and other stimulants. Treatment is graded according to response and the clinical site of swelling. Acute treatment for severe attack is by infusion of C1 inhibitor concentrate and for minor attack attenuated androgens and/or tranexamic acid. Prophylactic treatment is by attenuated androgens and/or tranexamic acid. There are a number of new products in trial, including genetically engineered C1 esterase inhibitor, kallikrein inhibitor and bradykinin B2 receptor antagonist. Individual sections provide special advice with respect to diagnosis, management (prophylaxis and emergency care), special situations (childhood, pregnancy, contraception, travel and dental care) and service specification.

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Section: Clinicalmentioning

confidence: 99%

C1 inhibitor deficiency: consensus document

Gompels

Lock

Abinun

et al. 2005

Clinical and Experimental Immunology

379

460

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“…Most notably, in HAE, edema is not associated with urticaria or pruritus. Edema of the bowel wall can occur and is typified by self‐limited severe abdominal pain, guarding (without fever), abdominal rigidity, vomiting, diarrhea, and leukocytosis that can last 1–3 days 64 …”

Section: Specific Complement Deficiencies and Their Clinical Significmentioning

confidence: 99%

Clinical Significance of Complement Deficiencies

Pettigrew

Teuber

Gershwin

2009

Annals of the New York Academy of Sciences

134

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The complement system is composed of more than 30 serum and membrane-bound proteins, all of which are needed for normal function of complement in innate and adaptive immunity. Historically, deficiencies within the complement system have been suspected when young children have had recurrent and difficult-to-control infections. As our understanding of the complement system has increased, many other diseases have been attributed to deficiencies within the complement system. Generally, complement deficiencies within the classical pathway lead to increased susceptibility to encapsulated bacterial infections as well as a syndrome resembling systemic lupus erythematosus. Complement deficiencies within the mannose-binding lectin pathway generally lead to increased bacterial infections, and deficiencies within the alternative pathway usually lead to an increased frequency of Neisseria infections. However, factor H deficiency can lead to membranoproliferative glomerulonephritis and hemolytic uremic syndrome. Finally, deficiencies within the terminal complement pathway lead to an increased incidence of Neisseria infections. Two other notable complement-associated deficiencies are complement receptor 3 and 4 deficiency, which result from a deficiency of CD18, a disease known as leukocyte adhesion deficiency type 1, and CD59 deficiency, which causes paroxysmal nocturnal hemoglobinuria. Most inherited deficiencies of the complement system are autosomal recessive, but properidin deficiency is X-linked recessive, deficiency of C1 inhibitor is autosomal dominant, and mannose-binding lectin and factor I deficiencies are autosomal co-dominant. The diversity of clinical manifestations of complement deficiencies reflects the complexity of the complement system.

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“…5 Barium studies, carried out during an acute attack, have been reported to show signs of massive submucosal oedema, spiculation, and fold thickening or effacement. 26 The gastrointestinal involvement appears to be segmental and transient with reversion to normal by several days after an attack. In a report of an endoscopy carried out during an acute attack of HAE the gastric mucosa was described as diffusely reddish and oedematous and the mucosal surface in involved areas bulged remarkably, mimicking a submucosal tumour.…”

Section: Clinical Characteristicsmentioning

confidence: 99%