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1.
Pan Afr Med J ; 33: 212, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31692651

RESUMO

Factor VII formerly known as proconvertin is a vitamin K-dependent coagulation factor involved in exogenous coagulation. Congenital factor VII deficiency is a very rare autosomal recessive hereditary disease. We report the case of a new-born of parents who had first-degree consanguinity, admitted to hospital on D10 of life with post-circumcision haemorrhagic syndrome. Laboratory tests showed decreased levels of prothrombin and normal activated partial thromboplastin time. Coagulation tests showed isolated factor VII deficiency to 18%. The new-born received transfusion of packed red blood cells and fresh frozen plasma in order to stop bleeding with favorable outcome. This study highlights the features of this rare deficit. Prognosis is linked to the risk of severe bleedings, such as brain bleeding occurring in the neonatal period as is the case with our patient. Hence the need to perform blood crasis assessment before circumcision.


Assuntos
Circuncisão Masculina/efeitos adversos , Deficiência do Fator VII/diagnóstico , Hemorragia/etiologia , Transfusão de Sangue/métodos , Deficiência do Fator VII/congênito , Humanos , Recém-Nascido , Masculino , Plasma , Prognóstico
2.
Arch. Soc. Esp. Oftalmol ; 94(8): 409-412, ago. 2019. ilus
Artigo em Espanhol | IBECS | ID: ibc-185629

RESUMO

Mujer de 20 años de edad con disminución brusca de visión en el ojo izquierdo. En la exploración de fondo de ojo, se observó una hemorragia prerretiniana focal en la arcada temporal superior con hemovítreo acompañante. La evolución espontánea fue favorable. A los 18 meses presentó una nueva pérdida visual en ese ojo, objetivándose una hemorragia premacular subhialoidea que fue drenada satisfactoriamente mediante una hialoidotomía con láser Nd-YAG. La paciente había presentado además, una hemorragia digestiva alta y menorragia. Se le realizó un estudio de la hemostasia que demostró un déficit del factor VII de la coagulación. Se trata de un trastorno muy infrecuente que, con anterioridad, no se había descrito en asociación a la aparición de hemorragias prerretinianas


The case concerns a 20 year-old woman with a sudden visual loss in her left eye. In the fundus examination, a focal pre-retinal haemorrhage was observed in the superior temporal vascular branch with accompanying vitreous haemorrhage. There was a favourable spontaneous outcome. Eighteen months later, she presented with a new visual loss in the same eye, showing a sub-hyaloid pre-macular haemorrhage that was satisfactorily drained by hyaloidotomy using a Nd-YAG laser. The patient had also presented with an upper digestive tract haemorrhage and menorrhagia. A haemostasis study was performed that showed a coagulation factor VII deficiency. This is a very uncommon disorder that has not been previously described in association with the appearance of pre-retinal haemorrhages


Assuntos
Humanos , Feminino , Adulto Jovem , Cegueira/etiologia , Deficiência do Fator VII/complicações , Hemorragia Retiniana/etiologia , Hemorragia Vítrea/etiologia , Deficiência do Fator VII/diagnóstico , Fundo de Olho , Lasers de Estado Sólido/uso terapêutico , Recidiva , Hemorragia Retiniana/diagnóstico por imagem , Hemorragia Retiniana/cirurgia , Hemorragia Vítrea/diagnóstico por imagem
3.
Arch Soc Esp Oftalmol ; 94(8): 409-412, 2019 Aug.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31153657

RESUMO

The case concerns a 20 year-old woman with a sudden visual loss in her left eye. In the fundus examination, a focal pre-retinal haemorrhage was observed in the superior temporal vascular branch with accompanying vitreous haemorrhage. There was a favourable spontaneous outcome. Eighteen months later, she presented with a new visual loss in the same eye, showing a sub-hyaloid pre-macular haemorrhage that was satisfactorily drained by hyaloidotomy using a Nd-YAG laser. The patient had also presented with an upper digestive tract haemorrhage and menorrhagia. A haemostasis study was performed that showed a coagulation factor VII deficiency. This is a very uncommon disorder that has not been previously described in association with the appearance of pre-retinal haemorrhages.


Assuntos
Cegueira/etiologia , Deficiência do Fator VII/complicações , Hemorragia Retiniana/etiologia , Hemorragia Vítrea/etiologia , Deficiência do Fator VII/diagnóstico , Feminino , Fundo de Olho , Humanos , Lasers de Estado Sólido/uso terapêutico , Recidiva , Hemorragia Retiniana/diagnóstico por imagem , Hemorragia Retiniana/cirurgia , Hemorragia Vítrea/diagnóstico por imagem , Adulto Jovem
4.
Isr Med Assoc J ; 5(21): 318-321, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31140222

RESUMO

BACKGROUND: Congenital factor VII deficiency is a rare recessive autosomal bleeding disorder with a wide spectrum of clinical manifestations. OBJECTIVES: To compare the clinical and laboratory findings in Jewish and Bedouin patients with factor VII deficiency. METHODS: The clinical and laboratory findings of patients with factor VII deficiency treated at Soroka Medical Center, a tertiary hospital in Israel, from 2005 to 2015 were analyzed regarding blood factor levels, illness severity, treatment administration, and disease outcome. RESULTS: Seventy-eight patients were enrolled (1:13,000 of the population in southern Israel) of whom 26 were diagnosed with severe factor VII deficiency (1:40,000). Sixty (76.9%) patients were Jewish and 18 (23.1%) were Bedouin. In univariable analysis, Bedouin patients exhibited a more severe illness, with significantly higher complication and fatality rates, and required more preventive treatment than the Jewish patients. CONCLUSIONS: The prevalence of congenital factor VII deficiency (including severe deficiency) in the Jewish and Bedouin populations of southern Israel is higher than previously reported. The clinical spectrum of the disease was found to be more severe in the Bedouin population.


Assuntos
Deficiência do Fator VII , Administração dos Cuidados ao Paciente/métodos , Adolescente , Adulto , Árabes/estatística & dados numéricos , Pré-Escolar , Deficiência do Fator VII/congênito , Deficiência do Fator VII/diagnóstico , Deficiência do Fator VII/etnologia , Deficiência do Fator VII/mortalidade , Feminino , Testes Hematológicos/métodos , Testes Hematológicos/estatística & dados numéricos , Humanos , Lactente , Israel/epidemiologia , Judeus/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Mortalidade , Prevalência , Índice de Gravidade de Doença
5.
Scott Med J ; 64(3): 119-122, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31142211

RESUMO

INTRODUCTION: Isolated acquired Factor VII deficiency is a rare coagulation disorder which is independent of vitamin K deficiency. The exact pathophysiological basis of this condition is unclear. We present a series of cases highlighting different clinical scenarios where this condition was encountered. CASE SERIES: The first case presented with intra-abdominal sepsis. The second was a patient admitted with acute kidney injury and subsequently diagnosed with myeloma. The final case presented with microangiopathic haemolytic anaemia and was suspected of having atypical Haemolytic Uraemic Syndrome. In each case, there was no family or personal history of a bleeding disorder. Follow-up Factor VII levels after recovery from illness was normal in all three cases. CONCLUSION: Acquired Factor VII deficiency is an uncommon but important finding which should be considered in the general medical setting when an isolated prolonged prothrombin time is detected.


Assuntos
Deficiência do Fator VII/diagnóstico , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
6.
Eur J Haematol ; 103(1): 67-69, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31069850

RESUMO

The management of anticoagulant therapy (OAT) in patients with factor VII (FVII) deficiency is a very challenging clinical issue, as warfarin further reduces FVII levels, thus potentially increasing bleeding risk. On the other hand, the International Normalized Ratio test is misleading in such patients, as they do not reflect the actual level of global inhibition of the coagulation system. We report here three cases of patients with a moderate FVII deficiency and receiving direct oral anticoagulants (DOAC) for prevention of cardioembolism in atrial fibrillation. Of note, two of them experienced a treatment failure while on warfarin, while DOAC treatment was not associated with thrombotic or hemorrhagic adverse events. DOAC are very attractive for the management of OAT in FVII deficient patients, because they do not require monitoring by tests affected by the inherited defect, and their mechanism of action is FVII-independent.


Assuntos
Anticoagulantes/administração & dosagem , Fibrilação Atrial/complicações , Embolia/etiologia , Embolia/prevenção & controle , Deficiência do Fator VII/complicações , Idoso , Idoso de 80 Anos ou mais , Fibrilação Atrial/diagnóstico , Coagulação Sanguínea/efeitos dos fármacos , Embolia/sangue , Embolia/diagnóstico , Deficiência do Fator VII/diagnóstico , Evolução Fatal , Feminino , Humanos , Masculino , Inibidores da Agregação de Plaquetas/administração & dosagem , Tomografia Computadorizada por Raios X , Resultado do Tratamento
7.
Asian Cardiovasc Thorac Ann ; 27(1): 42-44, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30789010

RESUMO

In cardiac surgery, supplementation with recombinant factor VIIa is the treatment of choice for patients with factor VII deficiency, but overzealous administration can be associated with thromboembolic side-effects. A 53-year-old man with factor VII activity 15.2%, international normalized ratio 2.9, and acute thrombotic critical coronary anatomy, underwent coronary artery bypass surgery and a thoracotomy with decortication 5 months later. He was managed successfully without recombinant factor VIIa supplementation. This case demonstrates that current bedside and laboratory tests such as thromboelastography, prothrombin time or international normalized ratio, and factor VII activity may not predict replacement therapy in these patients.


Assuntos
Coagulação Sanguínea/efeitos dos fármacos , Ponte de Artéria Coronária , Doença das Coronárias/cirurgia , Deficiência do Fator VII/tratamento farmacológico , Fator VIIa/administração & dosagem , Hemostáticos/administração & dosagem , Espondilite Anquilosante/cirurgia , Toracotomia , Tomada de Decisão Clínica , Ponte de Artéria Coronária/efeitos adversos , Doença das Coronárias/complicações , Doença das Coronárias/diagnóstico , Esquema de Medicação , Monitoramento de Medicamentos/métodos , Deficiência do Fator VII/sangue , Deficiência do Fator VII/complicações , Deficiência do Fator VII/diagnóstico , Fator VIIa/efeitos adversos , Hemostáticos/efeitos adversos , Humanos , Coeficiente Internacional Normatizado , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Valor Preditivo dos Testes , Proteínas Recombinantes/administração & dosagem , Proteínas Recombinantes/efeitos adversos , Espondilite Anquilosante/complicações , Espondilite Anquilosante/diagnóstico , Toracotomia/efeitos adversos , Tromboelastografia , Resultado do Tratamento
8.
Exp Clin Transplant ; 17(Suppl 1): 142-144, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30777540

RESUMO

Organ transplant in patients with congenital bleeding disorders is a challenge requiring an integrated approach of various specialists. Inherited factor VII deficiency is the most common of the rare bleeding disorders, with a wide set of hemorrhagic features. Although a kidney allograft is the most frequent type of solid-organ transplant, it is rarely performed in individuals with congenital hemorrhagic disorders. Here, we highlight the course of a patient with coagulation factor VII deficiency who underwent successful kidney transplant without significant coagulopathy. Our patient was a 19-year-old man with end-stage kidney disease and congenital coagulation factor VII deficiency. Perioperative bleeding was successfully prevented by administration of recombinant factor VII, confirming its safety in solid-organ transplants. Success requires evaluation of doses and therapeutic schedules, as well as a multidisciplinary approach.


Assuntos
Perda Sanguínea Cirúrgica/prevenção & controle , Coagulantes/administração & dosagem , Deficiência do Fator VII/tratamento farmacológico , Fator VIIa/administração & dosagem , Falência Renal Crônica/terapia , Transplante de Rim , Coagulação Sanguínea/efeitos dos fármacos , Monitoramento de Medicamentos/métodos , Deficiência do Fator VII/sangue , Deficiência do Fator VII/complicações , Deficiência do Fator VII/diagnóstico , Sobrevivência de Enxerto/efeitos dos fármacos , Humanos , Imunossupressores/administração & dosagem , Coeficiente Internacional Normatizado , Falência Renal Crônica/complicações , Falência Renal Crônica/diagnóstico , Masculino , Proteínas Recombinantes/administração & dosagem , Resultado do Tratamento , Adulto Jovem
9.
J Vet Diagn Invest ; 31(2): 276-279, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30661469

RESUMO

Canine inherited factor VII deficiency is a mild-to-moderate, inherited coagulopathy that affects several breeds of dog. We identified 2 polymorphisms near the disease-causing F7 gene mutation, one of which interfered with testing in several Beagles by causing allele dropout of the normal, wild-type allele. In the absence of an external proficiency program among veterinary genetic testing laboratories, implementation of an internal proficiency program, which requires 2 independent methods for genotyping dogs at any given locus, was further enhanced by ensuring minimally non-overlapping primer pairs between the 2 assays. After redesign of our clinical tests, all dogs were re-examined, and the correct genotypes were identified. These changes ensure higher accuracy in future testing of the F7 mutation.


Assuntos
Testes Diagnósticos de Rotina/veterinária , Doenças do Cão/diagnóstico , Deficiência do Fator VII/veterinária , Fator VII/genética , Testes Genéticos/veterinária , Ensaio de Proficiência Laboratorial/métodos , Polimorfismo Genético , Alelos , Animais , Sequência de Bases , Testes Diagnósticos de Rotina/métodos , Cães , Fator VII/análise , Deficiência do Fator VII/diagnóstico , Testes Genéticos/métodos , Genótipo
10.
Medicine (Baltimore) ; 97(44): e12776, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30383632

RESUMO

RATIONALE: Congenital factor VII (FVII) deficiency is a rare coagulopathy. There are little clinical data for congenital FVII deficiency and no evidence-based medicine guidelines for treatment. PATIENT CONCERNS: A 48-year-old woman with gallbladder stones suffered from intermittent abdominal pain for 2 months that was accompanied by an abnormally prolonged prothrombin time. DIAGNOSES: The woman was diagnosed as having cholecystolithiasis with cholecystitis and congenital FVII deficiency. INTERVENTION: Preoperative evaluation confirmed the necessity of recombinant activated factor VII (rFVIIa) replacement therapy. We monitored the plasma factor VII activity (FVII:C) and coagulation function, determined the half-life of rFVIIa in the patient, and administered personalized rFVIIa replacement therapy. OUTCOMES: Laparoscopic cholecystectomy was performed successfully, and the patient recovered well without any complications. LESSONS: The clinical manifestations and severity of bleeding in patients with congenital FVII deficiency can vary widely. The history of massive bleeding and plasma FVII:C are the decisive factors when implementing a replacement therapy. The actual half-life of rFVIIa can be determined from intensive monitoring results of plasma FVII:C at the beginning of replacement therapy, which could further guide the personalization of rFVIIa replacement therapy.


Assuntos
Deficiência do Fator VII/diagnóstico , Fator VIIa/uso terapêutico , Cuidados Pré-Operatórios/métodos , Testes de Coagulação Sanguínea/métodos , Fator VII/análise , Deficiência do Fator VII/tratamento farmacológico , Feminino , Hemorragia/etiologia , Hemorragia/prevenção & controle , Humanos , Pessoa de Meia-Idade , Proteínas Recombinantes/uso terapêutico
11.
BMC Med Genet ; 19(1): 15, 2018 01 24.
Artigo em Inglês | MEDLINE | ID: mdl-29368589

RESUMO

BACKGROUND: Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver a healthy baby without congenital FVII deficiency or other common Mendelian diseases in a couple in which both individuals carried a deleterious mutation in the F7 gene. METHODS: After both members of the couple were confirmed to be carriers of the F7 gene mutation by Sanger sequencing, expanded carrier screening (ECS) for 623 recessive inheritance diseases was performed to detect pathological mutations in other genes. PGD and preimplantational genetic screening (PGS) were employed to exclude monogenic disorders and aneuploidy for their embryos. RESULTS: ECS using targeted capture sequencing technology revealed that the couple carried the heterozygous disease-causative mutations c.3659C > T (p.Thr1220Ile) and c.3209G > A (p.Arg1070Gln) in the CFTR gene. After PGD and PGS, one of their embryos that was free of congenital FVII deficiency, cystic fibrosis (CF) and aneuploidy was transferred, resulting in the birth of a healthy 3200 g male infant. CONCLUSION: We successfully implemented PGD for congenital FVII deficiency and PGD after ECS to exclude CF for the first time to the best of our knowledge. Our work significantly improved the reproductive outcome for the couple and provides a clear example of the use of ECS combined with PGD to avoid the delivery of offspring affected not only by identified monogenically inherited diseases but also by other potential monogenic pathologies and aneuploidy.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Deficiência do Fator VII/diagnóstico , Deficiência do Fator VII/genética , Testes Genéticos , Diagnóstico Pré-Implantação , Aneuploidia , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Fibrose Cística/prevenção & controle , Fator VII/genética , Fator VII/metabolismo , Deficiência do Fator VII/prevenção & controle , Feminino , Fertilização In Vitro , Deleção de Genes , Genes Recessivos , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Doenças Genéticas Inatas/prevenção & controle , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Linhagem , Gravidez , Resultado da Gravidez , Análise de Sequência de DNA , Sequenciamento Completo do Genoma
12.
JBJS Case Connect ; 8(1): e4, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29369058

RESUMO

CASE: We describe a case of delayed presentation of compartment syndrome in the anterior aspect of the thigh in a high school athlete. The patient had sustained a blow to the thigh 8 days prior to presentation, and had continued to practice football in the setting of undiagnosed coagulopathy. He presented with severe thigh pain and the inability to contract the thigh muscles. CONCLUSION: A high index of suspicion for compartment syndrome is indicated for patients with disproportionate pain, especially in the setting of relatively minor trauma. Underlying coagulopathy should be investigated in patients with compartment syndrome because there is a high incidence of bleeding disorders in this population.


Assuntos
Traumatismos em Atletas , Síndromes Compartimentais , Deficiência do Fator VII , Futebol Americano , Coxa da Perna , Adolescente , Traumatismos em Atletas/complicações , Traumatismos em Atletas/diagnóstico por imagem , Traumatismos em Atletas/cirurgia , Síndromes Compartimentais/complicações , Síndromes Compartimentais/diagnóstico por imagem , Síndromes Compartimentais/cirurgia , Deficiência do Fator VII/complicações , Deficiência do Fator VII/diagnóstico , Humanos , Masculino , Músculo Esquelético/lesões , Músculo Esquelético/cirurgia , Coxa da Perna/diagnóstico por imagem , Coxa da Perna/lesões , Coxa da Perna/cirurgia
13.
Ter Arkh ; 90(7): 86-90, 2018 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-30701928

RESUMO

Constrictive pericarditis (CP) is the final stage of a chronic inflammatory process characterized by fibrous thickening and calcification of the pericardium that impairs diastolic filling, reduces cardiac output, and ultimately leads to heart failure. We present a clinical case of CP in a patient with rare inherited bleeding disorder - factor VII deficiency. Heart failure due to CP was suspected based on clinical symptoms, results of ultrasonic and radiological investigations. The diagnosis was verified by the results of cardiac magnetic resonance imaging. Pericardectomy was performed resulting in significant improvement in the patient's condition.


Assuntos
Deficiência do Fator VII/cirurgia , Pericardiectomia , Pericardite Constritiva/cirurgia , Adulto , Eletrocardiografia , Deficiência do Fator VII/complicações , Deficiência do Fator VII/diagnóstico , Humanos , Imagem por Ressonância Magnética , Masculino , Pericardite Constritiva/complicações , Pericardite Constritiva/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Resultado do Tratamento
14.
Pan Afr Med J ; 31: 156, 2018.
Artigo em Francês | MEDLINE | ID: mdl-31065316

RESUMO

Factor VII deficiency is rare, with an estimated prevalence rate of 1/1,000,000. It is transmitted as an autosomal recessive trait. It can cause simple nosebleeds up to cerebral hemorrhage. Our study aims to focus on the clinical features and the importance of screening in patients with this rare deficit. We report the cases of two brothers with this deficit. Child aged 8 years, born to non-consanguineous marriage who was the youngest of two children. He had a history of post-circumcision bleeding and was admitted to our Department for the treatment of recurrent nosebleeds occurred over the last 4 years. Screening tests of hemostasis showed low Prothrombin (PT), normal Activated thromboplastin time (ATT), while factor assay revealed factor VII deficiency with a rate of 26%. The patient underwent spaced fresh frozen plasma (FFP) transfusions due to nosebleeds and wounds. Family screening was not performed. The eldest brother, aged 11 years, presented with very abundant nosebleeds. Somatic examination was unremarkable. Given his history, the patient underwent factor VII assay revealing a rate of 55% and parent screening was scheduled. The diagnosis of congenital factor VII deficiency in a patient motivates family screening in order to perform screening tests in other carriers of factor VII deficiency. This would avoid severe manifestations, even fatal, considering that studies have not shown a correlation between factor VII rate and the severity of patient's status.


Assuntos
Epistaxe/etiologia , Deficiência do Fator VII/diagnóstico , Programas de Rastreamento/métodos , Transfusão de Componentes Sanguíneos/métodos , Criança , Deficiência do Fator VII/congênito , Deficiência do Fator VII/terapia , Humanos , Masculino , Plasma , Recidiva , Índice de Gravidade de Doença
15.
Turk J Pediatr ; 60(5): 562-565, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30968639

RESUMO

Ince Z, Bulut Ö, Tugrul-Aksakal M, Ünüvar A, Devecioglu Ö, Çoban A. Asymptomatic intracranial hemorrhage in a newborn with congenital factor VII deficiency and successful treatment with recombinant activated factor VII. Turk J Pediatr 2018; 60: 562-565. Intracranial hemorrhage is considered the most common cause of death in newborns with congenital factor VII (FVII) deficiency. Recombinant activated FVII (rFVIIa) provides specific replacement therapy, however there is limited experience with its neonatal use. We describe our experience about the treatment of intracranial hemorrhage in a newborn with congenital FVII deficiency and emphasize the importance of imaging in asymptomatic patients. She presented with ecchymoses on her skin, no other pathological clinical signs, prolonged PT, normal PTT and FVII activity of 2%. Intracranial hemorrhage was diagnosed while screening for internal bleedings. Treatment with rFVIIa resulted in stabilization and regression of the hematoma.


Assuntos
Deficiência do Fator VII/tratamento farmacológico , Fator VIIa/uso terapêutico , Hemorragias Intracranianas/tratamento farmacológico , Testes de Coagulação Sanguínea/métodos , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Deficiência do Fator VII/complicações , Deficiência do Fator VII/diagnóstico , Feminino , Humanos , Recém-Nascido , Hemorragias Intracranianas/etiologia , Proteínas Recombinantes/uso terapêutico , Tomografia Computadorizada por Raios X
16.
Br J Haematol ; 180(4): 563-570, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29235093

RESUMO

Perioperative bleeding is a major concern in patients with factor VII (FVII) deficiency. Evaluating data of 95 FVII-deficient patients undergoing 110 surgical procedures (61 major, 49 minor), we assessed the impact of type of surgery, bleeding phenotype and FVII coagulant activity (FVII:C) levels on perioperative replacement therapy (RT). Compared to those with higher FVII:C levels, patients with <3% FVII:C received a higher number of RT doses (8 vs. 2, P = 0·003) for a longer RT duration (3 days vs. 1 day, P = 0·001), with no difference in RT dose. Similarly, patients with a history of major bleeds received a higher number of RT doses (8·5 vs. 2-3, P = 0·013) for a longer RT duration (2 days vs. 1 day, P = 0·005) as compared to those with a history of minor bleeds or to asymptomatic patients. No difference in RT was found among major and minor surgical procedures. Overall, multivariate analysis showed that history of major bleeding was the only independent predictor of number of RT doses (ß = 0·352, P = 0·001) and RT duration (ß = 0·405, P = 0·018). Overall, a ≈20 µg/kg perioperative RT was efficacious in 95·5% of cases. The infusion should be repeated ≈8 times in high-risk subsets (i.e. patients with a history of major bleeding).


Assuntos
Deficiência do Fator VII/diagnóstico , Deficiência do Fator VII/cirurgia , Adolescente , Adulto , Tomada de Decisão Clínica , Terapia Combinada , Gerenciamento Clínico , Fator VII/administração & dosagem , Deficiência do Fator VII/epidemiologia , Feminino , Hemorragia/etiologia , Hemorragia/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Procedimentos Cirúrgicos Operatórios/métodos , Avaliação de Sintomas , Resultado do Tratamento , Adulto Jovem
17.
Thromb Haemost ; 117(8): 1455-1464, 2017 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-28447100

RESUMO

Congenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A clinical heterogeneity with poor correlation with FVII:C levels has been described. It was the objective of this study to identify genetic defects and to evaluate their relationships with phenotype in a large cohort of patients with FVII:C<50 %. One hundred twenty-three probands were genotyped for F7 mutations and three polymorphic variants and classified according to recently published clinical scores. Forty out of 123 patients (33 %) were symptomatic (43 bleedings). A severe bleeding tendency was observed only in patients with FVII:C<0.10 %. Epistaxis (11 %) and menorrhagia (32 % of females in fertile age) were the most frequent bleedings. Molecular analysis detected 48 mutations, 20 not reported in the F7 international databases. Most mutations (62 %) were missense, large deletions were 6.2 %. Compound heterozygotes/homozygotes for mutations presented lower FVII:C levels compared to the other classes (Chi2=43.709, p<0,001). The polymorphisms distribution was significantly different among the three F7 genotypic groups (Chi2=72.289, p<0,001). The presence of truncating mutations was associated with lowest FVII:C levels (Chi2=21.351, p=0.002). This study confirms the clinical and molecular variability of the disease and the type of symptoms. It shows a good correlation between the type of F7 mutation and/or polymorphisms and FVII:C levels, without a direct link between FVII:C and bleeding tendency. The results suggest that large deletions are underestimated and that they represent a common mechanism of F7 gene inactivation which should always be investigated in the diagnostic testing for FVII deficiency.


Assuntos
Deficiência do Fator VII/sangue , Deficiência do Fator VII/genética , Fator VII/genética , Fator VII/metabolismo , Hemostasia/genética , Mutação , Polimorfismo Genético , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Testes de Coagulação Sanguínea , Criança , Pré-Escolar , Análise Mutacional de DNA , Deficiência do Fator VII/diagnóstico , Feminino , Estudos de Associação Genética , Marcadores Genéticos , Predisposição Genética para Doença , Heterozigoto , Homozigoto , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Fenótipo , Adulto Jovem
19.
Clin Appl Thromb Hemost ; 23(7): 703-710, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27701084

RESUMO

Factor VII (FVII) deficiency is a rare inheritable bleeding disorder affecting 1/500 000 individuals. Clinical manifestations are heterogeneous, from asymptomatic to severe and potentially fatal bleeding. These clinical manifestations do not correlate well with FVII plasma levels. For this reason, FVII-deficient patient management during surgery or for long-term prophylaxis remains challenging. Laboratory testing for FVII activity is, however, the first-line method for FVII deficiency diagnosis and is helpful for managing patients in combination with clinical history. Additional testing consists of FVII immunoassay and genetic testing. Genetic abnormalities on the FVII gene are heterogeneous and can translate into quantitative or qualitative defects. Some of the latter can react differently with different thromboplastins; this can be misleading for the laboratory as no consensus exists at present on an FVII deficiency diagnosis methodology. Indeed, no single test is able to predict accurately the bleeding risk. This review provides a broad picture of inherited and acquired FVII deficiency with a particular focus on laboratory diagnosis.


Assuntos
Técnicas de Laboratório Clínico/métodos , Deficiência do Fator VII/diagnóstico , Gerenciamento Clínico , Deficiência do Fator VII/terapia , Humanos
20.
Rev. Nac. (Itauguá) ; 9(2): 46-66, 2017.
Artigo em Espanhol | LILACS, BDNPAR | ID: biblio-884649

RESUMO

Introducción: la hemostasia es el conjunto de sistemas que actúan coordinadamente para mantener la integridad de los vasos sanguíneos y la fluidez de la sangre; la alteración puede desencadenar trastornos trombóticos o hemorrágicos, dependiendo de la naturaleza de la falla. Objetivos: describir las coagulopatías hemorrágicas que se registraron en el departamento de laboratorio del Hospital Nacional de Itauguá, desde julio 2014 hasta diciembre 2015, obtener frecuencia y datos demográficos, edad, sexo, procedencia y clasificar las coagulopatías según deficiencias de factores de la coagulación, vía extrínseca, vía intrínseca y vía común final; sospecha de inhibidores adquiridos y enfermedad de von Willebrand. Material y Métodos: diseño observacional, descriptivo, retrospectivo de corte trasverso; incluyéndose pacientes de ambos sexos, todas las edades, derivados de médicos hematólogos. Resultados: se registraron 77 pacientes con coagulopatías hemorrágicas en el Laboratorio, 43 fueron del sexo masculino, de 1 a 75 años, mediana 18 años; 31% (24/77) con deficiencias del factor VII, todos leves, edades 7 a 75 años. En la vía intrínseca, la deficiencia del factor VIII o Hemofilia A, fue la más observada 29%(22/77), mayoría severas (13/22), mientras que déficit de factor IX, Hemofilia B, en 4 pacientes 5%(4/77). 85% Hemofilia A y 15% Hemofilia B, edades 1 y 64 años, mediana 13,5 años, todos del sexo masculino; no se registraron deficiencias de FXI y FXII en el periodo de estudio. De la vía común final, se encontraron 3 pacientes con hipofibrinogenemia, 1 con probable disfibrinogenemia, 1 con déficit de Factor II, 2 de Factor V y 2 de Factor X, 2 adultas, y el resto pediátricos; estas deficiencias son muy poco frecuentes, Factor I, V y X de 1/1.000.000 y FII 1/2.000.000 personas. Quince pacientes con sospecha de inhibidores, dos de ellas con inhibidor específico anti-FVIII, y probables inhibidores de interferencia. Se confirmó el primer déficit de factor Von Willebrand, en una mujer de 47 años. Conclusiones: entre las coagulopatías hemorrágicas de mayor frecuencia, se encuentran las Hemofilias A y B, seguida de deficiencias del factor VII y probables inhibidores de interferencia, los dos casos de inhibidores específicos anti Factor VIII fueron en pacientes con Hemofilia A severa. Fue relevante también el hallazgo de deficiencias de la vía común de la coagulación, a pesar de ser poco frecuentes. Algunos pacientes fueron diagnosticados en edad adulta, reflejando lo tardío que se llega al diagnóstico en el país.


Introduction: hemostasis is the set of systems that work in concert to maintain the integrity of blood vessels and blood flow; alteration can trigger thrombotic disorders or bleeding, depending on the nature of the fault Objective: describe hemorrhagic coagulopathy registered in the Medical Laboratory Department diagnosis at the National Hospital of Itauguá, from July 2014 to December 2015, obtain frequency and demographics, age, sex, origin and classify coagulopathy in to deficiencies of coagulation factors of the extrinsic pathway, intrinsic pathway, and common pathway; suspicion acquired inhibitors and von Willebrand's disease. Material and Methods: the design was an observational, descriptive, retrospective cross sectional study; being including patients of both sexes, all ages, referred by hematologists. Results: 77 patients with hemorrhagic coagulopathies, were female 43 male and 34 female, from 1 to 75 years, median age of 18 years; 31% (24/77) with factor VII deficiency, all mild, ages 7 to 75, 1 / 500,000 appears. In the intrinsic pathway, the factor VIII deficiency or hemophilia A, was the most observed 29% (22/77) severe majority (13/22), while Factor IX deficit, Hemophilia B, in 5% of patients (4/77). 85% Hemophilia A, and 15% Hemophilia B, ages 1 to 64 years, median age of 13.5 years, all male; no FXI and FXII deficiencies were recorded in the study period.Of the final common pathway, 3 patients with hipofibrinogenemia were found, 1 probable dysfibrinogenaemia, 1 deficiency of FII, 2 FV and FX 2, 2 were adult and the rest were pediatric; these deficiencies are rare, FI, V and X of 1 / 1,000,000 and FII 1 / 2,000,000 people. Fifteen patients with suspected inhibitors adquired, two of them with anti-FVIII specific inhibitor, and probable interference inhibitors. The first von Willebrand, factor deficiency was confirmed in a woman of 47 years. Conclusions: among the most frequent hemorrhagic coagulation disorders, we found hemophilia A and B, followed by deficiencies of factor VII and probable interference inhibitors both cases of specific inhibitors of factor VII were found in patients with severe Hemophilia A. Some patients were diagnosed in adulthood


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Transtornos de Proteínas de Coagulação/diagnóstico , Doenças de von Willebrand/diagnóstico , Estudos Transversais , Estudos Retrospectivos , Hemofilia B/diagnóstico , Transtornos Herdados da Coagulação Sanguínea/diagnóstico , Deficiência do Fator VII/diagnóstico , Hemofilia A/diagnóstico
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