How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults

被引:72
作者
Grainger, John D. [1 ,2 ]
Thachil, Jecko [3 ]
Will, Andrew M. [2 ]
机构
[1] Univ Manchester, Fac Med & Human Sci, Manchester, Lancs, England
[2] Manchester Univ NHS Fdn Trust, Royal Manchester Childrens Hosp, Dept Paediat Haematol, Manchester, Lancs, England
[3] Manchester Univ NHS Fdn Trust, Manchester Royal Infirm, Dept Haematol, Manchester, Lancs, England
关键词
glanzmann thrombasthenia; bernard soulier syndrome; management; menorrhagia; pregnancy; INHERITED BLEEDING DISORDERS; RECOMBINANT FACTOR VIIA; LEUCINE-RICH REPEAT; BONE-MARROW-TRANSPLANTATION; STEM-CELL TRANSPLANTATION; QUALITY-OF-LIFE; REGISTRY TREATMENT; 22Q11.2; DELETION; DIFFERENT FORMS; POINT MUTATION;
D O I
10.1111/bjh.15409
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The inherited platelet glycoprotein deficiencies, Glanzmann thrombasthenia (GT) and Bernard Soulier syndrome (BSS) are rare but important long-term bleeding disorders. Once diagnosed, affected patients should be referred to a specialist centre for bleeding disorders for general advice and ongoing management. Patients do not require prophylactic treatment and so the management of GT and BSS focuses around prophylactic treatment prior to high risk procedures and treatment in response to non-surgical bleeding events and, in women, the management of menorrhagia and pregnancy. There is no consistent approach to the treatment or prevention of bleeding complications. Management must be tailored for each individual and the approach may not be the same for different events, even for the same patient, depending on the type of accident or invasive procedure, the extent of bleeding and the presence or not of platelet refractoriness.
引用
收藏
页码:621 / 632
页数:12
相关论文
共 81 条
[1]   Chromosome 22q11.2 deletion presenting with immune-mediated cytopenias, macrothrombocytopenia and platelet dysfunction [J].
Akar, N. A. ;
Adekile, A. D. .
MEDICAL PRINCIPLES AND PRACTICE, 2007, 16 (04) :318-320
[2]   Modern management of severe platelet function disorders [J].
Alamelu, Jayanthi ;
Liesner, Ri .
BRITISH JOURNAL OF HAEMATOLOGY, 2010, 149 (06) :813-823
[3]   The use of recombinant factor VIIa in children with inherited platelet function disorders [J].
Almeida, AM ;
Khair, K ;
Hann, I ;
Liesner, R .
BRITISH JOURNAL OF HAEMATOLOGY, 2003, 121 (03) :477-481
[4]  
Andrews R.K., 2015, SEMINARS THROMBOSIS, V39, P656
[5]  
AWIDI AS, 1984, THROMB HAEMOSTASIS, V51, P331
[6]   Inherited thrombocytopenias frequently diagnosed in adults [J].
Balduini, C. L. ;
Savoia, A. ;
Seri, M. .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 (06) :1006-1019
[7]   Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization [J].
Bellucci, S ;
Damaj, G ;
Boval, B ;
Rocha, V ;
Devergie, A ;
Agha, IY ;
Garderet, L ;
Ribaud, P ;
Traineau, R ;
Socié, G ;
Gluckman, E .
BONE MARROW TRANSPLANTATION, 2000, 25 (03) :327-330
[8]  
BERNARD J, 1948, Sem Hop, V24, P3217
[9]  
BESSMAN JD, 1981, AM J CLIN PATHOL, V76, P289
[10]   Bacterial detection of platelets: Current problems and possible resolutions [J].
Blajchman, MA ;
Beckers, EAM ;
Dickmeiss, E ;
Lin, L ;
Moore, G ;
Muylle, L .
TRANSFUSION MEDICINE REVIEWS, 2005, 19 (04) :259-272