Women with congenital factor <scp>VII</scp> deficiency: clinical phenotype and treatment options from two international studies

Napolitano, Mariasanta; Minno, Matteo Nicola Dario Di; Bátorová, Angelika; Dolce, Alberto; Giansily‐Blaizot, Muriel; Ingerslev, Jørgen; Schved, Jean‐François; Auerswald, Günter; Kenet, Gili; Karimi, Mehran; Shamsi, Tahir; Saez, Arlette Ruiz de; Dolatkhah, Roya; Chuansumrit, Ampaiwan; Bertrand, Marion; Mariani, Guglielmo

doi:10.1111/hae.12978

Cited by 33 publications

(29 citation statements)

References 35 publications

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“…menorrhagia) treatment and prophylaxis may be required [16]. Excessive menstrual blood losses have been objectively determined in women with inherited Factor VII deficiency [17]; they affect two thirds of patients of fertile age, with a negative impact on quality of life [18]. Women with Factor VII deficiency can suffer from ovarian cysts and ovulatory bleeding; they also have an increased risk of post-partum hemorrhage [19,20].…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

Napolitano

Siragusa

Mariani

2017

JCM

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Factor VII deficiency is the most common among rare inherited autosomal recessive bleeding disorders, and is a chameleon disease due to the lack of a direct correlation between plasma levels of coagulation Factor VII and bleeding manifestations. Clinical phenotypes range from asymptomatic condition—even in homozygous subjects—to severe life-threatening bleedings (central nervous system, gastrointestinal bleeding). Prediction of bleeding risk is thus based on multiple parameters that challenge disease management. Spontaneous or surgical bleedings require accurate treatment schedules, and patients at high risk of severe hemorrhages may need prophylaxis from childhood onwards. The aim of the current review is to depict an updated summary of clinical phenotype, laboratory diagnosis, and treatment of inherited Factor VII deficiency.

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Section: Clinical Manifestationsmentioning

confidence: 99%

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

Napolitano

Siragusa

Mariani

2017

JCM

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“…Although there is no consensus for the management of this rare condition, gynecologists and obstetricians treating patients with FVII deficiency should carefully assess the bleeding risk and need for prophylaxis. 9 , 19 These health care providers should work closely with a hematologist to manage patients with FVII deficiency.…”

Section: Discussionmentioning

confidence: 99%

<p>Psychosocial Impact and Disease Management in Patients with Congenital Factor VII Deficiency</p>

Peltier

Kellum

Brewer³

et al. 2020

JBM

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Purpose Congenital factor VII (FVII) deficiency is a rare bleeding disorder of variable phenotype with predominantly mucocutaneous bleeding. The aim of this study was to identify the burden of FVII deficiency on patients and caregivers through a better understanding of the management and psychosocial impact of this disease. Materials and Methods A rare disease specialty recruiter from Comprehensive Health Education Services recruited participants for this online survey, which was conducted from January 31 to March 12, 2019. A moderator-assisted questionnaire was used to collect data on demographics, diagnosis, treatment, and psychosocial impact. Results Of the 45 respondents (25 patients and 20 caregivers), the majority were female (56%). Respondents reported a wide variety of initial bleeding symptoms, including bruising (58%), epistaxis (56%), and menorrhagia (36% of females). Because symptoms varied between individuals and were not always severe, diagnosis was often delayed. Mean time to obtain a diagnosis was 6.5 years and mean age at first diagnosis was 12.9 years. One-quarter (24%) of the respondents reported more than 100 bleeds of any severity over the previous year. When treating bleeds, 44% of patients reported using antifibrinolytics, and 42% reported using recombinant activated factor VII. Almost 31% of respondents reported missing schooldays as children, and 16% reported losing or resigning from a job in adulthood as a direct result of their disease. Notably, 29% of caregivers and 10% of their partners had also experienced issues with employment. Forty percent of respondents reported not participating in contact sports during childhood, and 22% continued to avoid contact sports in adulthood. Conclusion Overall, FVII deficiency has a substantial psychosocial impact, but most patients are satisfied with their disease management and are optimistic about their future. Patients desire additional educational, social, and financial support.

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“…A heterozygous patient can present with a massive hemorrhage, while a patient with severe factor deficiency may have no complications, even after delivery. 1,15 Life-threatening bleeding can occur in women with FVIID due to perineal trauma during vaginal delivery or CS. For this reason, patients may require the administration of FFP, prothrombin complex concentrate, or recombinant FVII.…”

Section: Discussionmentioning

confidence: 99%

Impact of Rare Bleeding Disorders during Pregnancy on Maternal and Fetal Outcomes: Review of 29 Pregnancies at a Single Center

Örgül

Aktoz

Beksaç

2017

Rev Bras Ginecol Obstet

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Objective This study aims to give information about the relationship between different types of factor deficiencies and maternal/obstetric outcomes. Methods We retrospectively reviewed the medical records of eight women with factor deficiency disorders. The demographic and clinical features of the patients after their last pregnancies were registered retrospectively. Results There were 29 pregnancies among the 8 patients. The spontaneous abortion rate was relatively high in two patients with factor XIII deficiency (80% and 57.1%) compared with the other factor deficiency groups. There were 16 births, which included 1 set of twins, and 2 deaths (1 stillbirth and 1 postpartum exitus occurred in the same patient). Intrauterine growth restriction was noted in five cases; four of these occurred in factor X deficiency cases. The mean decrease in hemoglobin level of all patients after birth was 1.7 g/dL (range, 0.2–3.6 g/dL). Red blood cell transfusion was required only in one case of factor XIII deficiency. Conclusions There is currently no consensus on the pregnancy management of women with factor deficiencies because of the limited knowledge due to the rarity of such disorders. Labor should be managed in a dedicated unit with a team consisting of an obstetrician, a hematologist, an anesthesiologist, a midwife, and a pediatrician to minimalize the complications.

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Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies

Abstract: Introduction: A paucity of data exists on the incidence, diagnosis and treatment of

Cited by 33 publications

References 35 publications

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

<p>Psychosocial Impact and Disease Management in Patients with Congenital Factor VII Deficiency</p>

Impact of Rare Bleeding Disorders during Pregnancy on Maternal and Fetal Outcomes: Review of 29 Pregnancies at a Single Center

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