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É uma doença hemorrágica hereditária ligada ao cromossomo X, caracterizada pela deficiência ou anormalidade da atividade coagulante do fator VIII (hemofilia A) .

Os sintomas incluem muitos hematomas grandes ou profundos, dor nas articulações e inchaço, sangramento inexplicável e sangue na urina ou nas fezes.

O tratamento inclui injeções de um fator de coagulação ou plasma.

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As bases moleculares da Hemofilia A

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Esquema da Cascata de Coagulação

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Exames: Contagem de plaquetas, TP, TTPa, análise dos fatores VIII e IX. Na hemofilia A, o TTPa é prolongado, mas TP e contagem de plaquetas são normais. As análises dos fatores VIII e IX determinam o tipo e a gravidade da hemofilia, no caso de Hemofilia A haverá a deficiência do fator VIII.

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Explicando sobre a cascata de coagulação Hemofilia A

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Fatores de risco cardiovascular entre pacientes adultos com hemofilia

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doi: 10.1007/s12185-021-03104-y. Online ahead of print.

Affiliations

¹ Department of Internal Medicine, Faculty of Medicine, Universidade Federal de Minas Gerais, Avenida Alfredo Balena, 190 2nd Floor, Room 255, Belo Horizonte, MG, 30130-100, Brazil. rmcamelo@hotmail.com.

² Fundacao de Hematologia e Hemoterapia de Pernambuco (HEMOPE), Recife, Brazil. rmcamelo@hotmail.com.

³ Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, The Netherlands. rmcamelo@hotmail.com.

⁴ Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, The Netherlands.

⁵ Jon J Van Rood Centre for Clinical Transfusion Research, Sanquin/LUMC, Leiden, The Netherlands.

⁶ Fundacao de Hematologia e Hemoterapia de Pernambuco (HEMOPE), Recife, Brazil.

⁷ Faculdade de Enfermagem Nossa Senhora das Gracas, Universidade de Pernambuco, Recife, Brazil.

⁸ Paediatric Haematology, Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.

⁹ Department of Internal Medicine, Faculty of Medicine, Universidade Federal de Minas Gerais, Avenida Alfredo Balena, 190 2nd Floor, Room 255, Belo Horizonte, MG, 30130-100, Brazil.

doi: 10.1007/s12185-021-03104-y. Online ahead of print.

Affiliations

¹ Department of Internal Medicine, Faculty of Medicine, Universidade Federal de Minas Gerais, Avenida Alfredo Balena, 190 2nd Floor, Room 255, Belo Horizonte, MG, 30130-100, Brazil. rmcamelo@hotmail.com.

² Fundacao de Hematologia e Hemoterapia de Pernambuco (HEMOPE), Recife, Brazil. rmcamelo@hotmail.com.

³ Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, The Netherlands. rmcamelo@hotmail.com.

⁴ Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, The Netherlands.

⁵ Jon J Van Rood Centre for Clinical Transfusion Research, Sanquin/LUMC, Leiden, The Netherlands.

⁶ Fundacao de Hematologia e Hemoterapia de Pernambuco (HEMOPE), Recife, Brazil.

⁷ Faculdade de Enfermagem Nossa Senhora das Gracas, Universidade de Pernambuco, Recife, Brazil.

⁸ Paediatric Haematology, Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.

⁹ Department of Internal Medicine, Faculty of Medicine, Universidade Federal de Minas Gerais, Avenida Alfredo Balena, 190 2nd Floor, Room 255, Belo Horizonte, MG, 30130-100, Brazil.

Abstract

Since the introduction of episodic and prophylactic treatments with safer factor concentrates, the life expectancy of people with haemophilia (PwH) has improved considerably. Ageing-related diseases such as cardiovascular disease (CVD) have also become more prevalent in PwH. This cross-sectional study aimed to evaluate CVD risk factors and estimate 10-year risk for CVD events among PwH. Male patients ≥ 30 years were interviewed and examined. Blood tests were performed at the local laboratory. Eighty-two patients were included, of whom 83% had haemophilia A and half had severe disease. Median age at study entry was 43.0 years (interquartile range [IQR], 36.0-51.3). Prevalence of obesity, systemic arterial hypertension (SAH) and diabetes mellitus were 16%, 60% and 16%, respectively. Hypertriglyceridaemia, hypercholesterolaemia and low HDL blood levels were present in 18%, 41% and 30% of patients, respectively. Metabolic syndrome was found in 37%. The Framingham Risk Score showed that 39% of PwH had a high risk of developing cardiovascular events in the following 10 years. We conclude that, in this cohort, PwH have a higher prevalence of SAH when compared with Brazilian men without haemophilia and about two-fifths have a high risk of developing a CVD event in the following 10 years.

Keywords: Cardiovascular disease; Cardiovascular risk; Framingham Risk Score; Haemophilia.

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national center for biotechnology information

# data[].attributes.attachment_link.title
Cardiovascular risk factors among adult patients with haemophilia - PubMed

# data[].attributes.attachment_link.description
Since the introduction of episodic and prophylactic treatments with safer factor concentrates, the life expectancy of people with haemophilia (PwH) has improved considerably. Ageing-related diseases such as cardiovascular disease (CVD) have also become more prevalent in PwH. This cross-sectional stu ...

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Critica: O diagnóstico molecular é essencial para hemofilia Pois consegue diagnosticar a deficiência do fator VIII. O teste desenvolvido pela HEMO Minas se torna muito importante não só para o diagnóstico da doença, mas também como aconselhamento genético para familiares e portadores de pacientes. Essa é uma informação muito importante para o planejamento dessas famílias e são exames em que o biomédico pode se fazer presente.

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Pitch: Diagnóstico molecular de hemofilia A e Doença de Von Willebrand

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O que são Distúrbios Hereditários da Coagulação?

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O que são Distúrbios Hereditários da Coagulação?

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Ocorrem quando o organismo é incapaz de produzir quantidades suficientes das proteínas que são necessárias para ajudar o sangue a coagular, interrompendo a hemorragia.

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O que é Distúrbios Adquiridos da Coagulação?

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O que é Distúrbios Adquiridos da Coagulação?

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Os distúrbios hemorrágicos adquiridos mais comuns são a hemorragia fármaco-induzida e a coagulação intravascular disseminada (CID).

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O fígado desempenha um papel fundamental no processo de coagulação do sangue porque é o local de síntese de todos os fatores de coagulação, exceto o  fator de von Willebrand. Sendo assim, o fígado desempenha um papel central no processo de coagulação, e as doenças hepáticas agudas e crônicas estão invariavelmente associadas a distúrbios de coagulação devido a múltiplas causas: diminuição da síntese de fatores de coagulação e inibidores, diminuição da depuração de fatores ativados, defeitos plaquetários quantitativos e qualitativos, hiperfibrinólise e coagulação intravascular disseminada.

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Explorando o papel complexo do fator VIII de coagulação na doença hepática crônica

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Affiliations

¹ Pittsburgh Heart, Lung and Blood Vascular Medicine Institute, Pittsburgh, Pennsylvania; Division of Hematology/Oncology, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania. Electronic address: tip9@pitt.edu.

² Pittsburgh Heart, Lung and Blood Vascular Medicine Institute, Pittsburgh, Pennsylvania.

³ Pittsburgh Heart, Lung and Blood Vascular Medicine Institute, Pittsburgh, Pennsylvania; Division of Hematology/Oncology, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania; Hemophilia Center of Western Pennsylvania, Pittsburgh, Pennsylvania.

Free article

Free article

Affiliations

¹ Pittsburgh Heart, Lung and Blood Vascular Medicine Institute, Pittsburgh, Pennsylvania; Division of Hematology/Oncology, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania. Electronic address: tip9@pitt.edu.

² Pittsburgh Heart, Lung and Blood Vascular Medicine Institute, Pittsburgh, Pennsylvania.

³ Pittsburgh Heart, Lung and Blood Vascular Medicine Institute, Pittsburgh, Pennsylvania; Division of Hematology/Oncology, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania; Hemophilia Center of Western Pennsylvania, Pittsburgh, Pennsylvania.

Abstract

Chronic liver disease is one of the leading causes of death in the United States. Coagulopathy is often a sequela of chronic liver disease, however, the role and regulation of coagulation components in chronic liver injury remain poorly understood. Clinical and experimental evidence indicate that misexpression of the procoagulant factor VIII (FVIII) is associated with chronic liver disease. Nevertheless, the molecular mechanism of FVIII-induced chronic liver injury progression remains unknown. This review provides evidence supporting a pathologic role for FVIII in the development of chronic liver disease using both experimental and clinical models.

Keywords: Chronic Live Injury; Cirrhosis; Factor VIII; Hemophilia A; Hepatitis C; Portal Hypertension.

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national center for biotechnology information

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Exploring the Complex Role of Coagulation Factor VIII in Chronic Liver Disease - PubMed

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Chronic liver disease is one of the leading causes of death in the United States. Coagulopathy is often a sequela of chronic liver disease, however, the role and regulation of coagulation components in chronic liver injury remain poorly understood. Clinical and experimental evidence indicate that mi ...

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Explicação Doença Hepática

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Tanto TP como TPPa estão aumentados nas doenças hepáticas graves.

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Critica: O vídeo traz uma excelente explicação em forma de desenhos sobre as desordens de hemostasia associadas as doenças hepáticas. Os principais mitos relacionados as doenças do fígado.

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Impacto da pandemia de COVID-19 no atendimento médico de pacientes com distúrbios hemorrágicos hereditários.

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Affiliations

¹ Abteilung für pädiatrische Hämostaseologie, Pädiatrisches Hämophiliezentrum, Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital, LMU Klinikum, München, Deutschland.

² Gerinnungszentrum Rhein-Ruhr, Duisburg, Deutschland.

³ HämoZentrum Hildesheim-Hannover-Osnabrück, Osnabrück, Deutschland.

⁴ Klinik für Kinderheilkunde, Hämatologie und Onkologie, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland.

⁵ II. Mediziinische Abteilung, Hämophiliezentrum, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland.

⁶ Institut für Medizinische Psychologie, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland.

Free PMC article

Free PMC article

Affiliations

¹ Abteilung für pädiatrische Hämostaseologie, Pädiatrisches Hämophiliezentrum, Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital, LMU Klinikum, München, Deutschland.

² Gerinnungszentrum Rhein-Ruhr, Duisburg, Deutschland.

³ HämoZentrum Hildesheim-Hannover-Osnabrück, Osnabrück, Deutschland.

⁴ Klinik für Kinderheilkunde, Hämatologie und Onkologie, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland.

⁵ II. Mediziinische Abteilung, Hämophiliezentrum, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland.

⁶ Institut für Medizinische Psychologie, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland.

Background and objectives: Chronic diseases, such as inherited bleeding disorders (IBD) are often associated with high costs of medical care. COVID-19 containment measures, including isolation and triage, led to restrictions in the health care of chronically ill patients. The aim of the present study was to investigate the effects of the COVID-19 pandemic on the health care of IBD patients.

Methods: In this multicentre cross-sectional study to evaluate the effects of COVID-19 on the mental health and quality of care of patients with inherited bleeding disorder, an ad hoc questionnaire was sent to 586 patients/parents of children with haemophilia A, B or von Willebrand syndrome type 3. In addition to demographic and clinical data, patients/parents of patients with inherited bleeding disorders were asked about their thoughts, concerns and experiences regarding their medical care during the COVID-19 pandemic. Differences between clinical subgroups were calculated.

Results: Significant differences were found between subgroups (severity, type of therapy, product class, comorbidities) with regard to the transmission of COVID-19 through plasma products, the effects of COVID-19 positive test results, fear of getting COVID-19, delayed drug supply and physiotherapy treatment.

Discussion: The medical care of patients with inherited bleeding disorders, who need a continuous supply of essential drugs, is a particular challenge in times of pandemics. Therefore, worries and fears of IBD patients should be taken seriously and innovative communication channels established to maintain therapy standards and quality of care.

Fragestellung: Chronische Erkrankungen, wie z. B. angeborene Blutungsneigungen (IBD: Inherited Bleeding Disorders), gehen häufig mit einem erhöhten Versorgungsaufwand einher. Maßnahmen zur Eindämmung der COVID-19 Pandemie, inklusive Isolation und Triageierung, haben zu Einschränkungen in der Krankenversorgung von chronisch kranken Patienten geführt. Ziel der vorliegenden Arbeit ist es, die Auswirkungen der COVID-19 Pandemie auf die Krankenversorgung von IBD-Patienten zu untersuchen.

Methodik: In dieser multizentrischen Querschnittsstudie zur Bewertung der Auswirkungen von COVID-19 auf die psychische Gesundheit und Versorgungsqualität von Patienten mit angeborener Blutungsneigung wurde ein ad-hoc Fragebogen an 586 Patienten/Eltern von Kindern mit Hämophilie A, B oder von Willebrand Syndrom Typ 3 verschickt. Neben demografischen und klinischen Daten wurden IBD Patienten zu ihren Gedanken, Sorgen und Erfahrungen in Bezug auf ihre medizinische Versorgung während der COVID-19 Pandemie befragt. Unterschiede zwischen klinischen Subgruppen wurden berechnet.

Ergebnisse: Signifikante Unterschiede zeigten sich zwischen Subgruppen (Schweregrad, Art der Therapie, Produktklasse, Komorbiditäten) bezüglich Übertragung von COVID-19 durch Plasmaprodukte, Auswirkungen COVID-19 positiver Testergebnisse, Angst COVID-19 zu bekommen, verzögerter Medikamentenversorgung und Physiotherapiebehandlung.

Diskussion: Die medizinische Versorgung von IBD-Patienten, die eine kontinuierliche Versorgung mit lebensnotwendigen Medikamenten benötigen, stellt in Pandemiezeiten eine besondere Herausforderung dar. Daher sollten Sorgen und Ängste von IBD-Patienten ernst genommen und innovative Kommunikationswege zur Aufrechterhaltung von Therapiestandards und Versorgungsqualität etabliert werden.

Conflict of interest statement

Die Autoren S. Halimeh, M. Olivieri, C. Wermes, W.A. Hassenflug, K. Holstein und S. von Mackensen bestätigen, dass kein Interessenskonflikt besteht und sie keine finanzielle Unterstützung für die Durchführung der Studie erhalten haben.

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national center for biotechnology information

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[Impact of COVID-19 Pandemic on Medical Care of Patients with Inherited Bleeding Disorders] - PubMed

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The medical care of patients with inherited bleeding disorders, who need a continuous supply of essential drugs, is a particular challenge in times of pandemics. Therefore, worries and fears of IBD patients should be taken seriously and innovative communication channels established to maintain thera ...