Suffocation due to Acute Airway Edema in a Patient with Hereditary Angioedema Highlighted the Need for Urgent Improvements in Treatment Availability in Japan

Honda, Daisuke; Ohsawa, Isao; Shimizu, Yuki; Maiguma, Masayuki; Hidaka, Teruo; Suzuki, Hitoshi; Io, Hiroaki; Mano, Satoshi; Takahara, Hikaru; Rinno, Hisaki; Tomino, Yasuhiko; Suzuki, Yusuke

doi:10.2169/internalmedicine.9262-17

Cited by 11 publications

(11 citation statements)

References 10 publications

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“…In Japan, HAE is estimated to affect 2500 patients, and the recognition of HAE by physicians is low. [15][16][17] Further, only 2 on-demand therapies are currently approved by the Japanese Ministry of Health, Labour and Welfare (MHLW) for the treatment of acute HAE attacks-IV plasma-derived C1-INH and SC icatibant-and only icatibant is approved for self-administration. 18,19 If the angioedema attack worsens after self-administration of icatibant, patients must visit their healthcare providers to receive plasma-derived C1-INH, and patients often live in fear that they will not arrive in time to the hospital or clinic.…”

Section: Introductionmentioning

confidence: 99%

Oral berotralstat for the prophylaxis of hereditary angioedema attacks in patients in Japan: A phase 3 randomized trial

Ohsawa

Honda

Suzuki

et al. 2020

Allergy

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Section: Introductionmentioning

confidence: 99%

Oral berotralstat for the prophylaxis of hereditary angioedema attacks in patients in Japan: A phase 3 randomized trial

Ohsawa

Honda

Suzuki

et al. 2020

Allergy

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“…The responsible gene SERPING1 has been detected, although the severity and frequency of the disease vary even in the same family members (5). HAE-C1-INH can be life-threatening when severe edema develops in the upper respiratory tracts, and patients might undergo unnecessary abdominal surgical procedures for severe abdominal pain resulting from gastrointestinal edema without appropriate treatment for HAE-C1-INH (6)(7)(8). Additionally, it has been reported that it takes an average of 13.8 years from the onset of the initial symptoms to be diagnosed with HAE-C1-INH due to the low awareness of the disease in Japan (8).…”

Section: Introductionmentioning

confidence: 99%

Cut-off value of C1-inhibitor function for the diagnosis of hereditary angioedema due to C1-inhibitor deficiency

Honda

Ohsawa

Mano

et al. 2021

IRDR

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cutoff value, C1-inhibitor, guideline, hereditary angioedema, Japan Hereditary angioedema caused by C1-inhibitor (C1-INH) deficiency (HAE-C1-INH) is a rare autosomal dominant disease. Primary care physicians sometimes face difficulties in diagnosing HAE-C1-INH owing to fluctuations in C1-INH function levels influenced by blood sampling conditions. International major guidelines do not stipulate a cutoff value of C1-INH function for the diagnosis. We aimed to explore the distribution of C1-INH function levels in patients with HAE-C1-INH and elucidate the influence of blood sampling conditions using healthy volunteers' samples to confirm the cutoff value of C1-INH function. In 48 patients with HAE-C1-INH who visited the Juntendo University Hospital in Japan between 2013 and 2019, C1-INH function levels were evaluated for 160 samples during symptom-free periods and 147 samples during an acute attack. Fluctuations of C1-INH function level were also evaluated for 8 healthy volunteers, wherein the samples were divided into 3 groups according to different sampling conditions. C1-INH function levels in all patients with HAE-C1-INH were found to be < 50%. The average C1-INH function level in healthy volunteers measured soon after blood collection in an appropriate sampling condition was 77% (61-92%) with some having lower C1-INH function levels than the reference value. C1-INH function levels fluctuated unstably in inappropriate sampling conditions. In conclusion, we can confirm that a < 50% C1-INH function level can be used as the diagnostic cutoff value for HAE-C1-INH. Moreover, it is necessary to repeat measurements of C1-INH function level in appropriate blood sampling conditions to accurately diagnose HAE-C1-INH.

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“…Patients with HAE might present with one or several manifestations of the clinical triad consisting of skin swellings, abdominal pain attacks, and laryngeal oedema, described by Heinrich Quincke in 1882 [7]. The abdominal attacks can be very painful and severe mucosal swelling might potentially obstruct the upper airway causing asphyxiation [8-11]. Historically, fatality was reported in up to 40% of HAE patients without treatment [12-15].…”

Section: Introductionmentioning

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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Suffocation due to Acute Airway Edema in a Patient with Hereditary Angioedema Highlighted the Need for Urgent Improvements in Treatment Availability in Japan

Cited by 11 publications

References 10 publications

Oral berotralstat for the prophylaxis of hereditary angioedema attacks in patients in Japan: A phase 3 randomized trial

Oral berotralstat for the prophylaxis of hereditary angioedema attacks in patients in Japan: A phase 3 randomized trial

Cut-off value of C1-inhibitor function for the diagnosis of hereditary angioedema due to C1-inhibitor deficiency

Hereditary Angio-Oedema for Dermatologists

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