Erythema Marginatum as an Early Symptom of Hereditary Angioedema: Case Report of 2 Newborns

Martinez‐Saguer, Inmaculada; Farkas, Henriette

doi:10.1542/peds.2015-2411

Cited by 44 publications

(35 citation statements)

References 23 publications

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“…Although C1‐INH deficiency is present at birth, clinical symptoms are rare during infancy. 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.…”

Section: Resultsmentioning

confidence: 99%

“…Of pediatric patients with C1‐INH‐HAE, 42% to 58% experience prodromal symptoms including erythema marginatum (a map‐like rash on the skin; reported from newborn onward) 4, 6, 14. Skin lesions with a similar appearance may develop in viral and bacterial infections and autoinflammatory diseases including rheumatoid diseases and periodic fever syndromes.…”

Section: Resultsmentioning

confidence: 99%

“…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. Sudden swellings of the gastrointestinal mucosa are common and often associated with severe debilitating abdominal pains.…”

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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

175

308

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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%

Section: Resultsmentioning

confidence: 99%

mentioning

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

175

308

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“…The evidence base for this review was formed mainly of case reports/series (N = 16) and observational studies (N = 10) . There was one RCT, two crossover studies, one questionnaire, and one survey .…”

Section: Resultsmentioning

confidence: 99%

The use of tranexamic acid for on‐demand and prophylactic treatment of hereditary angioedema—A systematic review

Horiuchi

Hide

Yamashita

et al. 2018

J Cutaneous Imm & Allergy

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Hereditary angioedema (HAE), caused by inherited deficiency of C1 esterase inhibitor (C1‐INH), is characterized by recurring subcutaneous and/or submucosal edema. Although its efficacy remains controversial, tranexamic acid (TXA) is used to treat HAE in some countries. We analyzed TXA as an on‐demand and prophylactic treatment in patients with HAE. Published data were systematically sourced from PubMed and Embase. All retained articles underwent grading/bias assessment using the “SIGN” grading system, and the quality of retained studies was determined following assessment of design and methodology. Of 353 studies identified, 31 were included. On‐demand treatment and prophylactic treatment were assessed in five (N = 103) and 28 studies (N = 231), respectively. The majority of studies (80%) demonstrated that on‐demand TXA was ineffective for skin, abdominal, or laryngeal swellings. In a single randomized controlled trial, the median time to relief of symptoms was 2 and 12 hours for icatibant and TXA, respectively (P < 0.001). For prophylaxis, while ~50% of case series, case reports, and observational studies reported beneficial effects of TXA, newer therapies, for example, icatibant and pdC1‐INH, were more effective. One study found that breakthrough attacks during TXA prophylaxis lasted significantly longer compared with C1‐INH (median time to resolution; 7 vs 3 hours, P = 0.016). Many studies failed to report safety data (16/31, 52%); however, pruritus, vomiting, and diarrhea were noted in some patients. There is no evidence for on‐demand use of TXA in HAE and limited evidence for prophylaxis. While TXA may be more beneficial than no treatment, newer, more effective therapies should be used when available.

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“…The reticular rash, which is also called erythema marginatum, has been reported as early as the new-born period (Fig. 2b) and could be an early marker of HAE [56, 57]. These symptoms are supposed to be due to the release of vasoactive mediators from the postcapillary venules.…”

Section: Clinical Presentationmentioning

confidence: 99%

Hereditary Angio-Oedema for Dermatologists

Bygum¹

2019

Dermatology

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Among angio-oedema patients, hereditary angio-oedema (HAE) should not be overlooked. Besides skin swellings, these patients might have very painful abdominal attacks and potentially life-threatening angio-oedema of the upper airway. They will not respond to traditional anti-allergic therapy with antihistamines, corticosteroids, and adrenaline, and instead need specific drugs targeting the kallikrein-kinin pathway. Classically, patients with HAE have a quantitative or qualitative deficiency of the C1 inhibitor (C1INH) due to different mutations in SERPING1, although a new subtype with normal C1INH has been recognised more recently. This latter variant is diagnosed based on clinical features, family history, or molecular genetic testing for mutations in F12, ANGPT1,or PLG.The diagnosis of HAE is often delayed due to a general unfamiliarity with this orphan disease. However, undiagnosed patients are at an increased risk of unnecessary surgical interventions or life-threatening laryngeal swellings. Within the last decade, new and effective therapies have been developed and launched for acute and prophylactic therapy. Even more drugs are under evaluation in clinical trials. It is therefore of utmost importance that patients with HAE are diagnosed as soon as possible and offered relevant therapy with orphan drugs to reduce morbidity, prevent mortality, and improve quality of life.

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Erythema Marginatum as an Early Symptom of Hereditary Angioedema: Case Report of 2 Newborns

Cited by 44 publications

References 23 publications

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

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

The use of tranexamic acid for on‐demand and prophylactic treatment of hereditary angioedema—A systematic review

Hereditary Angio-Oedema for Dermatologists

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