Hereditary Angioedema: New Findings Concerning Symptoms, Affected Organs, and Course

Bork, Konrad; Meng, G.; Staubach, Petra; Hardt, Jochen

doi:10.1016/j.amjmed.2005.09.064

Cited by 613 publications

(670 citation statements)

References 16 publications

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“…Newborns may experience erythema marginatum as a prodromal symptom, but rarely swelling 4, 27. The reported age of onset of attacks varies from 4.4 to 18 years with mean age of first attack at the age of ten 3, 5, 6, 7, 8, 9, 10, 11, 12, 13. Colic may be an unrecognized symptom of C1‐INH‐HAE in infancy 28, 29, 30.…”

Section: Resultsmentioning

confidence: 99%

“…Colic may be an unrecognized symptom of C1‐INH‐HAE in infancy 28, 29, 30. Early onset of symptoms may predict a more severe subsequent course of disease 3, 14, 15.…”

Section: Resultsmentioning

confidence: 99%

“…Viewing per‐episode, nearly all episodes consisted of skin swellings and abdominal attacks (96.5%). Per‐episode, laryngeal events are rare (0.9%), but potentially life threatening 3. One‐third of patients may develop an erythematous, nonpruritic rash, erythema marginatum, which might precede or accompany angioedema, although it can also occur independently 4.…”

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confidence: 99%

“…Edema involving the submucosa of the upper airways may cause airway obstruction and without treatment may lead to suffocation and death. The reported age of onset of attacks varies from 4.4 to 18 years with mean age of first attack at the age of ten 3, 5, 6, 7, 8, 9, 10, 11, 12, 13. Early onset of symptoms may predict a more severe course of disease 3, 14, 15.…”

mentioning

confidence: 99%

“…The reported age of onset of attacks varies from 4.4 to 18 years with mean age of first attack at the age of ten 3, 5, 6, 7, 8, 9, 10, 11, 12, 13. Early onset of symptoms may predict a more severe course of disease 3, 14, 15. HAE attacks usually become more severe at puberty particularly in females and swellings may occur for the first time with the introduction of estrogen‐containing medications 16, 17.…”

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confidence: 99%

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International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Farkas

Martinez‐Saguer²,

Bork

et al. 2016

Allergy

169

281

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BackgroundThe consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1‐INH‐HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric patients. We intended to produce consensus recommendations for the diagnosis and management of pediatric patients with C1‐INH‐HAE.MethodsDuring an expert panel meeting that took place during the 9th C1 Inhibitor Deficiency Workshop in Budapest, 2015 (www.haenet.hu), pediatric data were presented and discussed and a consensus was developed by voting.ResultsThe symptoms of C1‐INH‐HAE often present in childhood. Differential diagnosis can be difficult as abdominal pain is common in pediatric C1‐INH‐HAE, but also commonly occurs in the general pediatric population. The early onset of symptoms may predict a more severe subsequent course of the disease. Before the age of 1 year, C1‐INH levels may be lower than in adults; therefore, it is advisable to confirm the diagnosis after the age of one year. All neonates/infants with an affected C1‐INH‐HAE family member should be screened for C1‐INH deficiency. Pediatric patients should always carry a C1‐INH‐HAE information card and medicine for emergency use. The regulatory approval status of the drugs for prophylaxis and for acute treatment is different in each country. Plasma‐derived C1‐INH, recombinant C1‐INH, and ecallantide are the only agents licensed for the acute treatment of pediatric patients. Clinical trials are underway with additional drugs. It is recommended to follow up patients in an HAE comprehensive care center.ConclusionsThe pediatric‐focused international consensus for the diagnosis and management of C1‐INH‐HAE patients was created.

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Section: Resultsmentioning

confidence: 99%

“…Colic may be an unrecognized symptom of C1‐INH‐HAE in infancy 28, 29, 30. Early onset of symptoms may predict a more severe subsequent course of disease 3, 14, 15.…”

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 3 more Smart Citations

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Farkas

Martinez‐Saguer²,

Bork

et al. 2016

Allergy

169

281

View full text Add to dashboard Cite

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Vasculitic Neuropathy in a Patient With Hereditary C1 Inhibitor Deficiency

Yakushiji¹,

Mizuta²,

Kurohara³

et al. 2007

Arch Neurol

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To report the clinical, pathological, and mutational features of hereditary C1 inhibitor (C1INH) deficiency as a cause of isolated vasculitic neuropathy.Patient: A 35-year-old woman with sensorimotor mononeuritis multiplex and facial palsy. Results:The sural nerve biopsy results showed a decrease of myelinated fibers with axonal degeneration and severe hypersensitivity vasculitis, with deposition of C1q on vessel walls. Mutational analysis of the C1INH gene found a new mutation, a heterozygous 2-base pair deletion in exon 8. The patient was treated with plasmapheresis and intravenous methylprednisolone, followed by oral prednisolone, which resulted in marked improvement. Conclusion:Hereditary C1INH deficiency should be included in the differential diagnosis of nonsystemic vasculitis neuropathy.

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