Current management of hereditary angio-oedema (C'1 esterase inhibitor deficiency)

Fay, A. C.; Abinun, Mario

doi:10.1136/jcp.55.4.266

Cited by 51 publications

(41 citation statements)

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“…Angioedema can affect the airways, tongue, and larynx, which determine the severity of this disorder and a mortality rate of 15 to 33%. 5,6 Note that abdominal symptoms, like those referred by our patient, affect approximately 25% of the patients and they are secondary to edema of the intestinal mucosa and stenosis. 4 As for laboratorial investigations, low levels of C4 and normal levels of C3 suggest the diagnosis of angioedema associated with deficiency of C1-INH.…”

Section: Discussionsupporting

confidence: 51%

“…5 High doses are necessary to treat acquired angioedema, approximately 12,000 U, which is much higher than the dose recommended for HAE (500-1,500 U), due to the exacerbated catabolism of C1-INH by auto-antibodies. 8,9 The administration of fresh frozen plasma is another alternative, but since it contains high levels of complement, it can exacerbate the previous symptomatology.…”

Section: Discussionmentioning

confidence: 99%

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Angioedema adquirido autoimune de difícil controle em paciente com lúpus eritematoso sistêmico

Furlanetto¹,

Giassi²,

Neves³

et al. 2010

Rev. Bras. Reumatol.

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Section: Discussionsupporting

confidence: 51%

Section: Discussionmentioning

confidence: 99%

Angioedema adquirido autoimune de difícil controle em paciente com lúpus eritematoso sistêmico

Furlanetto¹,

Giassi²,

Neves³

et al. 2010

Rev. Bras. Reumatol.

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“…Although scattered reports of this disease can be traced back to the last century, hereditary angio-oedema reached its own identity in 1963 (for reviews see Cicardi et al . [1] and Fay and Abinun [2]). …”

Section: Introductionmentioning

confidence: 95%

C1 inhibitor deficiency: consensus document

Gompels

Lock

Abinun

et al. 2005

Clinical and Experimental Immunology

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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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“…The disease has a prevalence of 1 in 50,000 and can often be misdiagnosed. While most children will have had at least one episode before the teenage years, many are not diagnosed until the second or third decade [1].…”

Section: Introductionmentioning

confidence: 99%