Diagnosis and treatment of inherited thrombocytopenias

Clinical Genetics

Volumn 89, Issue 2, 2016, Pages 141-153

  Pecci, A ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Differential diagnosis; Immune thrombocytopenia; Inherited platelet disorders; Inherited thrombocytopenia; Treatment

Indexed keywords

ANTIFIBRINOLYTIC AGENT; DESMOPRESSIN; HEMOSTATIC AGENT; RECOMBINANT BLOOD CLOTTING FACTOR 7A; THROMBOPOIETIN RECEPTOR AGONIST; UNCLASSIFIED DRUG; WISKOTT ALDRICH SYNDROME PROTEIN;

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; BLOOD ANALYSIS; CLINICAL FEATURE; CLINICAL TRIAL (TOPIC); DIFFERENTIAL DIAGNOSIS; GENE THERAPY; GENETIC DISORDER; HUMAN; INHERITED THROMBOCYTOPENIA; LOCAL THERAPY; MEDICAL HISTORY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SPLENECTOMY; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; GENETIC DISEASES, INBORN;

DIAGNOSIS, DIFFERENTIAL; GENETIC DISEASES, INBORN; HUMANS; THROMBOCYTOPENIA;

EID: 84959857748     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12603     Document Type: Article

References (88)

1. Pecci A, Klersy C, Gresele P et al. MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 2014: 35: 236-247.
2. Liew E, Owen C. Familial myelodysplastic syndromes: a review of the literature. Haematologica 2011: 96: 1536-1542.
3. Noris P, Favier R, Alessi MC et al. ANKRD26-related thrombocytopenia and myeloid malignancies. Blood 2013: 122: 1987-1989.
4. Zhang MY, Churpek JE, Keel SB et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet 2015: 47: 180-185.
5. Noetzli L, Lo RW, Lee-Sherick AB et al. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet 2015: 47: 535-538.
6. Albert MH, Notarangelo LD, Ochs HD. Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. Curr Opin Hematol 2011: 18: 42-48.
7. Noris P, Pecci A, Di Bari F et al. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. Haematologica 2004: 89: 1219-1225.
8. Bottega R, Marconi C, Faleschini M et al. ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. Blood 2015: 125: 869-872.
9. Kunishima S, Okuno Y, Yoshida K et al. ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet 2013: 92: 431-438.
10. Provan D, Stasi R, Newland AC et al. International consensus report on the investigation and management of primary immune thrombocytopenia. Blood 2010: 115: 168-186.
11. Noris P, Schlegel N, Klersy C et al. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Haematologica 2014: 99: 1387-1394.
12. Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 2011: 154: 161-174.
13. Noris P, Perrotta S, Seri M et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011: 117: 6673-6680.
14. Balduini CL, Savoia A, Seri M. Inherited thrombocytopenias frequently diagnosed in adults. J Thromb Haemost 2013: 11: 1006-1019.
15. Savoia A, Pastore A, De Rocco D et al. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica 2011: 96: 417-423.
16. Albert MH, Bittner TC, Nonoyama S et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood 2010: 115: 3231-3238.
17. Nurden P, Debili N, Coupry I et al. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Blood 2011: 118: 5928-5937.
18. Nurden AT, Pillois X, Fiore M, Heilig R, Nurden P. Glanzmann thrombasthenia-like syndromes associated with macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. Semin Thromb Hemost 2011: 37: 698-706.
19. Merkens LS, Myrie SB, Steiner RD, Mymin D. Sitosterolemia. In: Pagon RA, Adam MP, Bird TD, et al., eds. GeneReviews™ [Internet]. 2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK131810
20. Millikan PD, Balamohan SM, Raskind WH, Kacena MA. Inherited thrombocytopenia due to GATA-1 mutations. Semin Thromb Hemost 2011: 37: 682-689.
21. Ballmaier M, Germeshausen M. Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. Semin Thromb Hemost 2011: 37: 673-681.
22. Greenhalgh KL, Howell RT, Bottani A et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet 2002: 39: 876-881.
23. Thompson AA, Woodruff K, Feig SA, Nguyen LT, Schanen NC. Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome. Br J Haematol 2001: 113: 866-870.
24. Latger-Cannard V, Fenneteau O, Salignac S, Lecompte TP, Schlegel N. Platelet morphology analysis. Methods Mol Biol 2013: 992: 207-225.
25. Massaad MJ, Ramesh N, Geha RS. Wiskott-Aldrich syndrome: a comprehensive review. Ann N Y Acad Sci 2013: 1285: 26-43.
26. Noris P, Biino G, Pecci A et al. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood 2014: 124: e4-e10.
27. Noris P, Klersy C, Zecca M et al. Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia. J Thromb Haemost 2009: 7: 2131-2136.
28. Noris P, Klersy C, Gresele P et al. Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study. Br J Haematol 2013: 162: 112-119.
29. Latger-Cannard V, Hoarau M, Salignac S, Baumgart D, Nurden P, Lecompte T. Mean platelet volume: comparison of three analysers towards standardization of platelet morphological phenotype. Int J Lab Hematol 2012: 34: 300-310.
30. Balduini CL, Cattaneo M, Fabris F et al. Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine. Haematologica 2003: 88: 582-592.
31. Glembotsky AC, Marta RF, Pecci A et al. International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country. J Thromb Haemost 2012: 10: 1653-1661.
32. Pecci A, Granata A, Fiore CE, Balduini CL. Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transplant 2008: 23: 2690-2692.
33. Morison IM, Cramer Bordé EM, Cheesman EJ et al. A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. Nat Genet 2008: 40: 387-389.
34. Gunay-Aygun M, Zivony-Elboum Y, Gumruk F et al. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood 2010: 116: 4990-5001.
35. Rees DC, Iolascon A, Carella M et al. Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol 2005: 130: 297-309.
36. Stevenson WS, Morel-Kopp MC, Chen Q et al. GFI1B mutation causes a bleeding disorder with abnormal platelet function. J Thromb Haemost 2013: 11: 2039-2047.
37. Monteferrario D, Bolar NA, Marneth AE et al. A dominant-negative GFI1B mutation in the gray platelet syndrome. N Engl J Med 2014: 370: 245-253.
38. Berndt MC, Andrews RK. Bernard-Soulier syndrome. Haematologica 2011: 96: 355-359.
39. Othman M, Emsley J. Platelet-type von Willebrand disease: toward an improved understanding of the "sticky situation". Semin Thromb Hemost 2014: 40: 146-150.
40. Federici AB, Mannucci PM, Castaman G et al. Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients. Blood 2009: 113: 526-534.
41. Savoia A, De Rocco D, Panza E et al. Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost 2010: 103: 826-832.
42. Kitamura K, Yoshida K, Shiraishi Y et al. Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders. J Thromb Haemost 2013: 11: 2071-2073.
43. Noris P, Perrotta S, Bottega R et al. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). Haematologica 2012: 97: 82-88.
44. Kunishima S, Imai T, Hamaguchi M, Saito H. Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura. Eur J Haematol 2006: 76: 348-355.
45. Kashiwagi H, Kunishima S, Kiyomizu K et al. Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and Glanzmann Thrombasthenia-like phenotype. Mol Genet Genomic Med 2013: 1: 77-86.
46. Kunishima S, Kobayashi R, Itoh TJ, Hamaguchi M, Saito H. Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. Blood 2009: 113: 458-461.
47. Manchev VT, Hilpert M, Berrou E et al. A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene. Blood 2014: 124: 2554-2563.
48. George JN, Shattil SJ. The clinical importance of acquired abnormalities of platelet function. N Engl J Med 1991: 324: 27-39.
49. Girolami A, Sambado L, Bonamigo E, Vettore S, Lombardi AM. Occurrence of thrombosis in congenital thrombocytopenic disorders: a critical annotation of the literature. Blood Coagul Fibrinolysis 2013: 24: 18-22.
50. Kaufman RM, Djulbegovic B, Gernsheimer T et al. Platelet transfusion: a clinical practice guideline from the AABB. Ann Intern Med 2014: 162: 205-213.
51. Liumbruno G, Bennardello F, Lattanzio A, Piccoli P, Rossetti G. Recommendations for the transfusion of plasma and platelets. Blood Transfus 2009: 7: 132-150.
52. Peaceman AM, Katz AR, Laville M. Bernard-Soulier syndrome complicating pregnancy: a case report. Obstet Gynecol 1989: 73: 457-459.
53. Bolton-Maggs PH, Chalmers EA, Collins PW et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol 2006: 135: 603-633.
54. Kumar R, Kahr WH. Congenital thrombocytopenia: clinical manifestations, laboratory abnormalities, and molecular defects of a heterogeneous group of conditions. Hematol Oncol Clin North Am 2013: 27: 465-494.
55. Althaus K, Greinacher A. MYH9-related platelet disorders. Semin Thromb Hemost 2009: 35: 189-203.
56. Pecci A, Verver EJ, Schlegel N et al. Cochlear implantation is safe and effective in patients with MYH9-related disease. Orphanet J Rare Dis 2014: 9: 100.
57. Colucci G, Stutz M, Rochat S et al. The effect of desmopressin on platelet function: a selective enhancement of procoagulant COAT platelets in patients with primary platelet function defects. Blood 2014: 123: 1905-1916.
58. Tosetto A, Balduini CL, Cattaneo M et al. Management of bleeding and of invasive procedures in patients with platelet disorders and/or thrombocytopenia: Guidelines of the Italian Society for Haemostasis and Thrombosis (SISET). Thromb Res 2009: 124: 13-18.
59. Sehbai AS, Abraham J, Brown VK. Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. Am J Hematol 2005: 79: 303-308.
60. Tefre KL, Ingerslev J, Sørensen B. Clinical benefit of recombinant factor VIIa in management of bleeds and surgery in two brothers suffering from the Bernard-Soulier syndrome. Haemophilia 2009: 15: 281-284.
61. Coppola A, Simone CD, Palmieri NM et al. Recombinant activated factor VII for hemostatic cover of orthopaedic interventions in a girl with thrombocytopenia with absent radii syndrome. Blood Coagul Fibrinolysis 2007: 18: 199-201.
62. Basciano PA, Bussel JB. Thrombopoietin-receptor agonists. Curr Opin Hematol 2012: 19: 392-398.
63. Pecci A, Gresele P, Klersy C et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 2010: 116: 5832-5837.
64. Pecci A, Barozzi S, d'Amico S, Balduini CL. Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation. Thromb Haemost 2012: 107: 1188-1189.
65. Favier R, Feriel J, Favier M, Denoyelle F, Martignetti JA. First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia. Pediatrics 2013: 132: e793-e795.
66. Gröpper S, Althaus K, Najm J et al. A patient with Fechtner syndrome successfully treated with romiplostim. Thromb Haemost 2012: 107: 590-591.
67. Bussel JB, Frelinger AL III, Mitchell WB et al. Platelet function and response to thrombopoietin mimetics in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. Blood (ASH meeting abstracts) 2010: 116: 1429.
68. Prica A, Sholzberg M, Buckstein R. Safety and efficacy of thrombopoietin-receptor agonists in myelodysplastic syndromes: a systematic review and meta-analysis of randomized controlled trials. Br J Haematol 2014: 167: 626-638.
69. Pai SY, Notarangelo LD. Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment. Immunol Allergy Clin North Am 2010: 30: 179-194.
70. Moratto D, Giliani S, Bonfim C et al. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood 2011: 118: 1675-1684.
71. Shin CR, Kim MO, Li D et al. Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome. Bone Marrow Transplant 2012: 47: 1428-1435.
72. Oshima K, Imai K, Albert MH et al. Hematopoietic stem cell transplantation for X-linked thrombocytopenia with mutations in the WAS gene. J Clin Immunol 2014 [Epub ahead of print].
73. Woods G, Bajwa RP, Rose MJ. Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature. Pediatr Transplant 2014: 18: E31-E34.
74. Rao AA, Gourde JA, Marri P, Galardy PJ, Khan SP, Rodriguez V. Congenital amegakaryocytic thrombocytopenia: a case report of pediatric twins undergoing matched unrelated bone marrow transplantation. J Pediatr Hematol Oncol 2014: 37: 304-306.
75. Rieger C, Rank A, Fiegl M et al. Allogeneic stem cell transplantation as a new treatment option for patients with severe Bernard-Soulier Syndrome. Thromb Haemost 2006: 95: 190-191.
76. Boztug K, Schmidt M, Schwarzer A et al. Stem cell gene therapy for the Wiskott-Aldrich syndrome. N Engl J Med 2010: 363: 1918-1927.
77. Braun CJ, Boztug K, Paruzynski A et al. Gene therapy for Wiskott-Aldrich syndrome-long-term efficacy and genotoxicity. Sci Transl Med 2014: 6: 227ra33.
78. Aiuti A, Biasco L, Scaramuzza S et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science 2013: 341: 1233151.
79. Balduini CL, Pecci A, Noris P. Diagnosis and management of inherited thrombocytopenias. Semin Thromb Hemost 2013: 39: 161-171.
80. Pecci A, Biino G, Fierro T et al. Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. PLoS One 2012: 7: e35986.
81. Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis 2009: 4: 9.
82. Favier R, Jondeau K, Boutard P et al. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb Haemost 2003: 90: 893-897.
83. Toriello HV. Thrombocytopenia-absent radius syndrome. Semin Thromb Hemost 2011: 37: 707-712.
84. Albers CA, Paul DS, Schulze H et al. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet 2012: 44: 435-439.
85. Thompson AA, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet 2000: 26: 397-398.
86. Savoia A, Kunishima S, De Rocco D et al. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014: 35: 1033-1045.
87. Kahr WH, Hinckley J, Li L et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 2011: 43: 738-740.
88. Balduini CL, Pecci A, Loffredo G et al. Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. Thromb Haemost 2004: 91: 129-140.