A case of normal C1 esterase inhibitor hereditary angioedema successfully treated with berotralstat

Kelbel, Theodore

doi:10.1016/j.anai.2022.01.014

Cited by 5 publications

(17 citation statements)

References 9 publications

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“…Patients without a confirmed HAE diagnosis can experience significant difficulties obtaining insurance coverage for long-term treatment costs. 5 , 50 , 51 In many cases, treatment response to a trial course of therapy specific to HAE can form part of the diagnostic process for patients with HAE-nI-C1-INH and can help to justify the decision for consideration of long-term access to an on-demand medication and/or access to prophylactic treatment. 50 , 52 …”

Section: Diagnosis Of Hae-ni-c1-inhmentioning

confidence: 99%

“… 21 Although examples of oral berotralstat use in patients with HAE-nI-C1-INH are currently limited in the literature, a case report of a patient with a severe needle phobia suggests that berotralstat can provide an effective option where the use of injectable lanadelumab and icatibant is less unfeasible. 50 …”

Section: Treatment Of Hae-ni-c1-inhmentioning

confidence: 99%

“… 50 This highlights the benefits of adopting a personalized approach to HAE management that takes into account a patient’s comorbidities and preferences. 50 …”

Section: Treatment Of Hae-ni-c1-inhmentioning

confidence: 99%

“… 51 Therefore, insurance coverage for treatment costs associated with the use of on-demand and prophylactic treatments for HAE is often dependent upon patients having a confirmed diagnosis. 50 , 51 …”

Section: Treatment Of Hae-ni-c1-inhmentioning

confidence: 99%

“…5,50,51 In many cases, treatment response to a trial course of therapy specific to HAE can form part of the diagnostic process for patients with HAE-nI-C1-INH and can help to justify the decision for consideration of long-term access to an on-demand medication and/or access to prophylactic treatment. 50,52…”

Section: Challenges Associated With Obtaining a Confirmed Diagnosismentioning

confidence: 99%

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Managing Diagnosis, Treatment, and Burden of Disease in Hereditary Angioedema Patients with Normal C1-Esterase Inhibitor

Jones¹,

Zafra²,

Anderson³

2023

JAA

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Hereditary angioedema (HAE) is a rare, chronic, and debilitating genetic disorder characterized by recurrent and unpredictable swelling episodes that primarily affect the subcutaneous and/or submucosal tissues of the extremities, larynx, face, abdomen, and genitals. Most cases of HAE are caused by mutations in the serpin family G member 1 gene ( SERPING1 ), which encodes C1-esterase inhibitor (C1-INH) protein. Mutations in SERPING1 lead to deficient (type I HAE-C1-INH) or dysfunctional (type II HAE-C1-INH) C1-INH protein and subsequent dysregulation of the kallikrein–bradykinin cascade. However, some patients present with a third type of HAE (HAE-nI-C1-INH), which was first described in the year 2000 and is characterized by an absence of mutations in SERPING1 . Although mutations in the coagulation factor XII, angiopoietin-1, plasminogen, kininogen-1, myoferlin, and heparan sulfate-glucosamine 3-O-sulfotransferase-6 genes have been identified in some patients with HAE-nI-C1-INH, genetic cause is still unknown in many cases, hindering full elucidation of the pathology of this HAE subtype. Diagnosis of HAE-nI-C1-INH is also further complicated by the fact that patients typically demonstrate normal plasma levels of C1-INH and complement component 4 protein and normal C1-INH functionality during laboratory analysis. Therefore, we review the challenges associated with diagnosing, treating, and living with HAE-nI-C1-INH. We conclude that raising awareness of the presenting features of HAE-nI-C1-INH within the clinical setting and among the general public is critical to aid earlier suspicion and diagnosis of the disease. Furthermore, adopting an individualized approach to HAE-nI-C1-INH treatment is essential to help address the current and significant unmet needs in this patient population.

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Section: Diagnosis Of Hae-ni-c1-inhmentioning

confidence: 99%

Section: Treatment Of Hae-ni-c1-inhmentioning

confidence: 99%

“… 50 This highlights the benefits of adopting a personalized approach to HAE management that takes into account a patient’s comorbidities and preferences. 50 …”

Section: Treatment Of Hae-ni-c1-inhmentioning

confidence: 99%

Section: Treatment Of Hae-ni-c1-inhmentioning

confidence: 99%

Section: Challenges Associated With Obtaining a Confirmed Diagnosismentioning

confidence: 99%

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Managing Diagnosis, Treatment, and Burden of Disease in Hereditary Angioedema Patients with Normal C1-Esterase Inhibitor

Jones¹,

Zafra²,

Anderson³

2023

JAA

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A Retrospective Analysis of Long-Term Prophylaxis with Berotralstat in Patients with Hereditary Angioedema and Acquired C1-Inhibitor Deficiency—Real-World Data

Johnson,

Stenzl,

Hofauer

et al. 2023

Clinic Rev Allerg Immunol

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Hereditary angioedema (HAE) and acquired C1-inhibitor deficiency (AAE-C1-INH) are orphan diseases. Berotralstat is a recently licensed long-term prophylaxis (LTP) and the first oral therapy for HAE patients. No approved therapies exist for AAE-C1-INH patients. This study is the first to report real-world clinical data of patients with AAE-C1-INH and HAE who received Berotralstat. All patients treated with Berotralstat were included in this retrospective, bi-centric study. Data was collected from patients’ attack calendars and the angioedema quality of life (AE-QoL) and angioedema control test (AECT) questionnaires before treatment, and at 3, 6, and 12 months after treatment and was then analyzed. Twelve patients were included, 3 patients with AAE-C1-INH, 7 patients with HAE type I, and 2 patients with HAE-nC1-INH. One patient (HAE I) quit treatment. Berotralstat was associated with fewer attacks in all groups. After 6 months of treatment, a median decrease of attacks per month was noted for HAE type I patients (3.3 to 1.5) and AAE-C1-INH patients (2.3 to 1.0). No aerodigestive attacks were noted for AAE-C1-INH patients. For HAE-nC1-INH patients, a mean decrease from 3.8 to 1.0 was noted (3 months). For HAE I patients, the total AE-QoL lowered a mean of 24.1 points after 6 months, for HAE-nC1-HAE patients 8.0 points, and for AAE-C1-INH patients 13.7 points. AECT scores increased for HAE I patients (mean: 7.1), HAE-nC1-INH patients (9.0), and AAE-C1-INH patients (4.2) after 6 months. Patients with HAE, HAE-nC1-INH, and AAE-C1-INH treated with Berotralstat showed reduced angioedema attacks and improved AE-QoL and AECT scores.

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The multifactorial impact of receiving a hereditary angioedema diagnosis

Raasch

Glaum

O’Connor

2023

World Allergy Organization Journal

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A case of normal C1 esterase inhibitor hereditary angioedema successfully treated with berotralstat

Cited by 5 publications

References 9 publications

Managing Diagnosis, Treatment, and Burden of Disease in Hereditary Angioedema Patients with Normal C1-Esterase Inhibitor

Managing Diagnosis, Treatment, and Burden of Disease in Hereditary Angioedema Patients with Normal C1-Esterase Inhibitor

A Retrospective Analysis of Long-Term Prophylaxis with Berotralstat in Patients with Hereditary Angioedema and Acquired C1-Inhibitor Deficiency—Real-World Data

The multifactorial impact of receiving a hereditary angioedema diagnosis

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