Use of pdC1-INH concentrate for long-term prophylaxis during pregnancy in hereditary angioedema with normal C1-INH

Garcia, Juliana F.B.; Takejima, Priscila; Veronez, Camila Lopes; Aun, Marcelo Vívolo; Motta, Antônio Abílio; Kalil, Jorge; Pesquero, João Bosco; Giavina‐Bianchi, Pedro

doi:10.1016/j.jaip.2017.12.022

Cited by 19 publications

(19 citation statements)

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“…C1-INH was shown to be effective for long-term prophylaxis during pregnancy, achieving complete control in 1 patient and partial control in another patient [48], and almost complete control of HAE-FXII in 2 members of a family [39]. In 1 patient, partial attack control was reported on concomitant prophylaxis with TXA and C1-INH [39].…”

Section: Treatment Experiencesmentioning

confidence: 98%

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Bork

Machnig

Wulff

et al. 2020

Orphanet J Rare Dis

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Background Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) (HAEnCI) is associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper airway obstruction. Several different gene mutations linked to the HAE phenotype have been identified. Our aim was to qualitatively assess and describe the clinical differentiators of these genetically identified HAEnCI types. To achieve this, we performed a systematic literature review of patients with angioedema symptoms and a genetically confirmed diagnosis of an HAEnCI type. Results A systematic literature search, conducted in March 2020, returned 132 records, 43 of which describe patients with symptoms of angioedema and a genetically confirmed diagnosis of an HAEnCI type. Overall, this included 602 patient cases from 220 families. HAEnCI with a mutation in the coagulation factor XII gene (F12) (HAE-FXII) was diagnosed in 446 patients from 185 families (male:female ratio = 1:10). Estrogens (oral contraceptives, hormonal replacement therapy, and pregnancy) negatively impacted the course of disease in most female patients (252 of 277). Asphyxia occurred in 2 of 446 patients. On-demand and/or long-term prophylaxis treatment included C1-INH concentrates, icatibant, progestins, and tranexamic acid. HAEnCI with a specific mutation in the plasminogen gene (HAE-PLG) was diagnosed in 146 patients from 33 families (male:female ratio = 1:3). Estrogens had a negative influence on the course of disease in the minority of female patients (14 of 62). Tongue swelling was an important clinical feature. Asphyxia occurred in 3 of 146 patients. On-demand treatment with icatibant and C1-INH concentrate and long-term prophylaxis with progestins and tranexamic acid were effective. HAEnCI with a specific mutation in the angiopoietin-1 gene (HAE-ANGPT1) was diagnosed in 4 patients from 1 family and HAEnCI with a specific mutation in the kininogen-1 gene (HAE-KNG1) in 6 patients from 1 family. Conclusions A number of clinical differentiators for the different types of HAEnCI have been identified which may support clinicians to narrow down the correct diagnosis of HAEnCI prior to genetic testing and thereby guide appropriate treatment and management decisions. However, confirmation of the causative gene mutation by genetic testing will always be required.

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Section: Treatment Experiencesmentioning

confidence: 98%

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Bork

Machnig

Wulff

et al. 2020

Orphanet J Rare Dis

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“…В ряде исследований показана возможность использования для длительной профилактики НАО с нормальным уровнем С 1 -ингибитора его концентрата из человеческой плазмы, антифибринолитиков, андрогенов и пероральных прогестинов (off-label) [21,22].…”

Section: òàáëèöà 2 äèàãíîñòèêà íàî ñ íîðìàëüíûì óðîâíåì ñ 1 -èíãèáèòunclassified

“…Механизм действия препарата остается неясным. Предполагается, что высокий уровень С 1 -ингибитора может подавлять продукцию брадикинина [22]. Согласно другой гипотезе, у пациентов перед атакой может наблюдается избыточное потребление С 1 -ингибитора, которое компенсируется введением его концентрата [21].…”

Section: òàáëèöà 2 äèàãíîñòèêà íàî ñ íîðìàëüíûì óðîâíåì ñ 1 -èíãèáèòunclassified

Diagnosis and treatment of hereditary angioedema with normal C1-inhibitor level

Emelyanov

Kameneva

2020

Terapevticheskii arkhiv

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Hereditary angioedema (HAE) with normal C1-inhibitor level is a rare potentially life-threatening disorder with autosomal dominant inheritance which was first described in 2000. Its clinical presentation is similar to HAE with C1-deficiency. The review is summarized data about its prevalence, mechanisms, genetics and diagnostic criteria. Different subtypes and treatment options (on demand, short term and long-term prophylaxis) are discussed. We describe family clinical cases of 2 female patients with normal C1-inhibitor and plasminogen gene mutation. Their features were late diagnosis (in 10 and 25 years after the onset of symptoms), family history (similar genetic mutation in 3 female members of the same family, including 1-asymtomatic) and combination of face, tongue, larynx and abdominal angioedema in patient and her sibling.

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“…In women with HAE-C1-INH, pregnancy showed a variable course, worsening in different periods, suggesting that hormonal changes during the gestation were not the only factor influencing its course (7)(8)(9). There are only case reports about the pregnancy in HAE-nC1-INH women (10)(11)(12)(13)(14)(15)(16)(17)(18)(19). Therefore, considering the close connection with estrogen and limited information on the course of pregnancies in women with HAE-nC1-INH, we aimed to evaluate the gestational period in these patients.…”

Section: Introductionmentioning

confidence: 99%

Pregnancy in Patients With Hereditary Angioedema and Normal C1 Inhibitor

et al. 2022

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BackgroundHAE with normal C1 inhibitor (HAE-nC1-INH) has been identified as a bradykinin mediated angioedema. Estrogens are one of the main trigger factors. Pregnancy in HAE with C1 inhibitor deficiency showed variable course, however, few reports are available for HAE-nC1-INH. We evaluated the course of pregnancies in women diagnosed with HAE-nC1-INH.MethodsWomen with diagnosis of HAE-nC1-INH according to the following criteria: clinical manifestations similar to HAE-C1-INH, normal biochemical evaluation and family history were included. A questionnaire about pregnancies was applied after consent. Genetic evaluation for known mutations was performed in all patients.ResultsA total of 45 pregnancies occurring in 26 HAE-nC1-INH patients were evaluated (7/26 patients with F12 variant). Spontaneous abortion was reported in 8/45 (17.8%) pregnancies. Onset of attacks started before the pregnancy in 18/26 patients; during the pregnancy in 2/26; and after the pregnancy in 6/26. HAE attacks occurred in 24/37 pregnancies (64,7%): during the 1st trimester in 41.7%; 2nd trimester in 12.5%; 3rd trimester in 20.8%; 1st and 3rd trimesters in 4.2% and during the whole pregnancy in 20.8%. Among 15/18 patients who had attacks before pregnancy, symptoms persisted with worsening in 9/15; improvement in 4/15; no change in 1/15, and no response in 1/15.ConclusionsThe occurrence of abortion in HAE-nC1-INH was similar to the expected for not affected women. The 1st trimester of the pregnancy was more symptomatic for HAE-nC1-INH women. Considering the strong relevance of estrogens in HAE-nC1-INH, pregnancy could worsen the course of disease.

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Use of pdC1-INH concentrate for long-term prophylaxis during pregnancy in hereditary angioedema with normal C1-INH

Cited by 19 publications

References 9 publications

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Diagnosis and treatment of hereditary angioedema with normal C1-inhibitor level

Pregnancy in Patients With Hereditary Angioedema and Normal C1 Inhibitor

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