Hemofilia Online (Hemophilia)
¨Hemofilias são doenças hematológicas que acarretam alterações no processo da coagulação, devido à deficiência de algum fator de coagulação. As causas da doença são genéticas e as hemofilias mais comuns são a hemofilia A (deficiência de fator VIII) e hemofilia B (deficiência de fator IX). O gênero masculino é o mais acometido, com pico de ocorrência entre 20 e 29 anos, sendo que o tipo A aparece com maior frequência. Em todo mundo, 6,9 milhões de pessoas apresentam algum distúrbio hemorrágico e, no Brasil, quase 11 mil pessoas possuíam diagnóstico de algum tipo de hemofilia em 2012. Em virtude das alterações do processo de coagulação, as hemorragias tornam-se as complicações mais frequentes no indivíduo hemofílico, podendo ser espontâneas ou secundárias a um trauma. Os portadores de hemofilia apresentam dor persistente, que varia de intensidades moderada a intensa. Nessa população, o quadro álgico pode ocasionar a ocorrência de complicações musculoesqueléticas, como restrição dos movimentos articulares, fibrose articular, contraturas, alterações da marcha e da força muscular, hemartroses, hemorragias tissulares e artrite hemofílica (AH). O diagnóstico é feito por meio dos exames que investigam a cascata de coagulação: tempo de protrombina (TP), índice internacional normalizado (INR) e tempo de tromboplastina parcial ativada (TTPa). No caso de afetar a via intrínseca da coagulação, o TP estará normal, mas o TTPa estará alargado. Para confirmar se a deficiência é do fator IX podemos dosá-lo¨
■ Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management
Gary Benson, Günter Auerswald, Gerry Dolan et al
Blood Transfus. 2018 Nov; 16(6): 535–54
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214819/
■ Impact of prophyaxis on health-related quality of life of boys with hemofilia: na analysis of pooled data from 9 countries
Koyo Usuba, Victoria E. Price, Victor Blanchette et al
Res Pract Thromb Haemost. 2019 Jul; 3(3): 397–40
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611476/
■ Preventing lives affected by hemophilia: a mixed methods study of the views of adults with hemophilia and their families toward genetic screening
Felicity K. Boardman, Rachel Hale, Raksha Gohel, Philip J. Youn
Mol Genet Genomic Med. 2019 May; 7(5): e618
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503017/
■ Extending recombinant fator IX Fc fusion protein dosing interval to 14 or more days in patients with hemofilia B
Amy D. Shapiro, K. John Pasi, Margareth C. Ozelo et al
Res Pract Thromb Haemost. 2019 Jan; 3(1): 109–113
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332734/
■ Developing a new scoring scheme for the hemophilia Joint Health Score 2.1
Tiago Ribeiro, Audrey Abad, Brian M. Feldman
Res Pract Thromb Haemost. 2019 Jul; 3(3): 405–411
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611477/
■ Succesful use of emicizumab in a patient with refractory acquired hemophilia A and acute coronary syndrome requiring percutaneous coronary intervention – Case report
Kathryn E. Dane, John P. Lindsley, Michael B. Streiff et al
Res Pract Thromb Haemost. 2019 Jul; 3(3): 420–423.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611359/
■ Using pharmacokinetics for tailoring prophylaxis in people with hemophilia switching between clotting factor products: a scoping review
Jacky K. Yu, Alfonso Iorio, Andrea N. Edginton, the WAPPS co‐investigators
Res Pract Thromb Haemost. 2019 Jul; 3(3): 528–541
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611373/
■ Hemophilia trials in the twenty-first century: defining patient important outcomes
Barbara A. Konkle, Mark Skinner, Alfonso Iorio
Res Pract Thromb Haemost. 2019 Apr; 3(2): 184–192
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462740/
■ Hemofilia adquirida idiopática: um relato de caso
I N Concer, M M Felisberto, M E S Costi et al
Arquivos Catarineses de Medicina 2018, vol 47 (2)
http://www.acm.org.br/acm/seer/index.php/arquivos/article/view/239
■ Causes of death among 379 patients with hemophilia: a developing country´s report
Hassan Mansouritorghabeh, Hossein Rahimi, Seyed Tahereh Mohades, Maryam Behboud
Clin Appl Thromb Hemost. 2018 May; 24(4): 612–617
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714710/
■ Focusing in on use pharmacokinetic profiles in routine hemophilia care
Stacy E. Croteau, Michael U. Callaghan, Joanna Davis et al
Res Pract Thromb Haemost. 2018 Jul; 2(3): 607–614
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6046597/
■ Performing and interpreting individual pharmacokinetic profiles in patients with hemophilia A or B: rationale and general considerations
Alfonso Iorio, Andrea N. Edginton, Victor Blanchette et al
Res Pract Thromb Haemost. 2018 Jul; 2(3): 535–548
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6046594/
■ Systematic molecular analysis of hemophilia A patients from Colombia.
Yunis, Luz Karime et al.
Genet. Mol. Biol., Dec 2018, vol.41, no.4, p.750-757
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500750&lng=en&nrm=iso
■ The frequency of joint hemorrhages and procedures in nonsevere hemophilia A vs B
- Michael Soucie, Paul E. Monahan, Roshni Kulkarni, Barbara A. Konkle, Marshall A. Mazepa
Blood Adv. 2018 Aug 28; 2(16): 2136–2144
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113607/
■ European principles of inhibitor management in patients with haemophili
- L. F. Giangrande, C. Hermans, B. O’Mahony, P. de Kleijn et al
on behalf of the European Haemophilia Consortium (EHC) and the European Association for Haemophilia and Allied Disorders (EAHAD)
Orphanet J Rare Dis. 2018; 13: 66
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5921290/
■ Balance, falls, and exercise: beliefs and experiences in people with hemophilia: a qualitative study
Lorraine M. Flaherty, Jennie Schoeppe, Rebecca Kruse‐Jarres, Barbara A. Konkle
Res Pract Thromb Haemost. 2018 Jan; 2(1): 147–154
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055559/
■ A survey of characteristics and current educational needs of hemophilia treatment centers within Asia Pacific
Joyce C. M. Lam, M. Joseph John, Alison Street et al
the Asia Pacific Hemophilia Working Group (APHWG)
Res Pract Thromb Haemost. 2018 Jul; 2(3): 508–517.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6046602/
■ Product type and other environmental risk factors for inhibitor development in severe hemophilia A
Flora Peyvandi, Isabella Garagiola
Res Pract Thromb Haemost. 2018 Apr; 2(2): 220–227
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055565/
■ Abordagem fisioterápica na dor e na qualidade de vida de um indivíduo com artrite hemofílica. Relato de caso
Jorge, Matheus Santos Gomes et al.
Rev. dor, Mar 2016, vol.17, no.1, p.65-6
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-00132016000100065&lng=en&nrm=iso
■ Complication of haemophilia in babies (first two years of life): a report from the Centers for Disease Control and Prevention Universal Data Collection System
R Kulkarni, R J Presley, J M Lusher et al
Haemophilia. 2017 Mar; 23(2): 207–214
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5354941/
■ Gene therapy in hemophilia A: a cost-effectiveness analysis
Nicoletta Machin, Margaret V. Ragni, Kenneth J. Smith
Blood Adv. 2018 Jul 24; 2(14): 1792–1798.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058236/
■ Hemartrose subtalar, um diagnóstico raro
Rosemberg, Dov Lagus et
Rev bras.ortop 2017, vol 52 (2)
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-36162017000200228&lng=en&nrm=iso&tlng=pt ( Portuguese)
■ Acquired hemophilia A: updated review of evidence and treatment guidance
R Kruse-jarres
American Journal of Hematology 2017, vol 92 (7)
https://onlinelibrary.wiley.com/doi/full/10.1002/ajh.24777
■ Novo medicamento para hemophilia A requer menos aplicações
https://jornal.usp.br/atualidades/novo-medicamento-para-hemofilia-requer-menos-aplicacoes/
■ Italian registry of congenital bleeding disorders
A Giampaolo, F Abbonizio, R Arcieri, H J Hassan
J Clin Med 2017, vol 6 (3): 34
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373003/
■ Clinical evaluation of bleeding and brusing in primary care
D Neutze, J Roque
Am Fam Physician 2016, vol 93 (4): 279-286
https://www.aafp.org/afp/2016/0215/p279.html
■ Consensus review of the treatment of cardiovascular disease in people with hemophilia A and B
Victor A. Ferraris, Leonard I. Boral, Alice J. Cohen, Susan S. Smyth, Gilbert C. White, II
Cardiol Rev. 2015 Mar; 23(2): 53–68
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4323575/
■ Dr Paulo Fernando Leite
Cardiologia/Prevenção Cardiovascular
Estratificação de Risco Cardiovascular
Novo endereço:
Consultório: Rua Padre Rolim 815/sala 815
Tel: 33245518 (Consulta Particular/Unimed)
– Centro Médico Unimed BH/Contagem/Pedro I
Belo Horizonte/MG/Brasil
CRMMG: 7026
Email: pfleite1873@gmail.com