Misdiagnosis of hereditary angio-oedema type 1 and type 2

Gompels, Mark; Lock, R J; Unsworth, D J; Johnston, Sarah; Archer, Corey; Davies, S.V.

doi:10.1046/j.1365-2133.2003.05231.x

Cited by 31 publications

(26 citation statements)

References 16 publications

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“…There is evidence that pitfalls in the diagnosis are common, with 11 of 42 cases reviewed recently found to have a questionable diagnosis [28]. Established or transferring cases should be reviewed for validity of the diagnosis.…”

Section: Laboratorymentioning

confidence: 99%

C1 inhibitor deficiency: consensus document

Gompels

Lock

Abinun

et al. 2005

Clinical and Experimental Immunology

380

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: Laboratorymentioning

confidence: 99%

C1 inhibitor deficiency: consensus document

Gompels

Lock

Abinun

et al. 2005

Clinical and Experimental Immunology

380

460

View full text Add to dashboard Cite

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“…Gompels et al described two patients who appeared to have undetectable concentrations of C1 esterase inhibitor on one system, but which could be measured on theirs, and who also had normal C4 concentrations. 5 We still do not know what caused our patient's original angioedema: C1 esterase inhibitor deficiency has been excluded and allergy, although not excluded, looks unlikely; in addition, because the swelling subsided, amyloid is an unlikely explanation. Infection is possible because of his raised C reactive protein concentration, but he reported no changes in the drugs that he was taking, so that an adverse drug reaction seems unlikely, and no physical trauma was reported.…”

Section: Discussionmentioning

confidence: 89%

Acquired C1 esterase inhibitor deficiency or serendipity? The chance finding of a paraprotein after an apparently low C1 esterase inhibitor concentration

Sinclair

Smith²,

Cranfield³

et al. 2004

J Clin Pathol

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Acquired C1 esterase inhibitor deficiency is a rare condition, usually presenting after the 2nd decade of life, and is often related to underlying conditions such as autoimmune and lymphoproliferative disorders. This case report describes a man whose initial clinical presentation with acute angioedema and whose initial estimation of a low C1 esterase inhibitor concentration indicated that he had an acquired angioedema, possibly secondary to a B cell neoplasm. A paraprotein was detected, and although its detection was serendipitous because it hinged on a spurious C1 esterase inhibitor result, this case confirms the role of C4 concentrations in the investigation of C1 esterase inhibitor deficiency. It also confirms the need to obtain repeat confirmatory samples before arriving at a diagnosis, however convincing the clinical signs may be.A cquired C1 esterase inhibitor deficiency is a rare condition, usually presenting after the 2nd decade of life, and is often related to underlying conditions such as autoimmune and lymphoproliferative disorders, whereas the hereditary form of the condition is inherited via an autosomal dominant trait and usually presents earlier in life. 1Both the acquired and hereditary forms present in a similar clinical manner, usually as painless swellings that subside over 24-48 hours, but if these occur in an older patient, the possibility exists of a low C1 esterase inhibitor concentration being secondary to a B cell neoplasm. Multiple myeloma can sometimes present in this manner. 2 Here, we present a patient whose paraprotein was discovered following a spurious low C1 esterase inhibitor concentration. CASE REPORTSR is a 74 year old man who presented to the accident and emergency (A/E) department with an acutely swollen tongue, palate, and submandibular region, one to two hours after waking. On examination, he was alert and he could breathe and swallow but was unable to talk. There was no previous personal or family history of angioedema noted. Previous medical history included a right leg below knee amputation as a result of trauma, benign prostatic hypertrophy, peripheral vascular disease, and non-insulin dependant diabetes. He was not taking an angiotensin converting enzyme (ACE) inhibitor at the time. On admission, his initial treatment consisted of 100 mg hydrocortisone and 4 mg Piriton. He recovered well, and by the next morning he could talk, the swelling had subsided, and he was discharged from hospital.Routine blood samples taken on admission showed slight increases in urea and creatinine at 8.8 mmol/litre (reference range, 3.3-6.7) and 130 mmol/litre (reference range, 60-120), respectively. C reactive protein was increased at 74 mg/litre (reference range, , 5). All other routine biochemistry was normal and he was normocalcaemic. A full blood count showed mild anaemia (haemoglobin, 119 g/litre; reference range, 130-180). After admission to A/E beds, complement and IgE studies were requested as part of a standard protocol to investigate angioedema. The C4 concentration was towards t...

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“…If the C4 level is normal, analysis of the C1-INH level is usually not necessary (25). Tests of C1-INH levels are not always the first diagnostic test administered because they have been associated with a large number of false positives (26% in one study) and should be reviewed by a specialist before a diagnosis is made (26).…”

Section: Clinical Evaluationmentioning

confidence: 99%