Modern approach to diagnosis of inherited platelet function disorders
Abstract
Inherited platelet function disorders (IPFD) comprise a heterogeneous group of diseases. Their real frequency is probably underestimated as in many patients with excessive subcutaneous and mucosal bleedings the disorder has not been recognized. The presented diagnostic recommendations are based on a systematic review of the scientific literature and describe the role of platelets in the clotting process and the most common congenital disorders of platelet function. A diagnostic algorithm for clinical and laboratory stepwise management of patients with IPFD is presented.
Downloads
References
Sharathkumar AA, Shapiro A. Platelet function disorders. 2nd ed. Indianapolis, USA: World Federation of Hemophilia (WFH); 2008. p. 1–15.
Israels SJ, El-Ekiaby M, Quiroga T, Mezzano D. Inherited disorders of platelet function and challenges to diagnosis of mucocutaneous bleeding. Haemoph. 2010; 16 Suppl 5: 152–9.
Rao AK. Inherited defects in platelet signaling mechanisms. J Tromb Haemost. 2003; 1 (4): 671–81.
Cattaneo M. Inherited platelet-based bleeding disorders. J Tromb Haemost. 2003; 1 (7): 1628–36.
Shankar M, Lee CA, Sabin CA, Economides DL, Kadir RA. von Willebrand disease in women with menorrhagia: a systematic review. Int J Obstet Gynaecol. 2004; 111 (7): 734–40.
Vo KT, Grooms L, Klima J, Holland-Hall C, O’Brien SH. Menstrual bleeding patterns and prevalence of bleeding disorders in a multidisciplinary adolescent haematology clinic. Haemoph. 2013; 19 (1): 71–5.
Ahuja SP, Hertweck SP. Overview of bleeding disorders in adolescent females with menorrhagia. J Pediatr Adolesc Gynecol. 2010; 23 (6 Suppl):S15–21.
Philipp CS, Dilley A, Miller CH, Evatt B, Baranwal A, Schwartz R, et al. Platelet functional defects in women with unexplained menorrhagia. J Tromb Haemost. 2003; 1 (3): 477–84.
Miller CH, Philipp CS, Stein SF, Kouides PA, Lukes AS, Heit JA, et al. Te spectrum of haemostatic characteristics of women with unexplained menorrhagia. Haemoph. 2011; 17 (1):e223–229.
Díaz R, Dietrich JE, Mahoney D, Yee DL, Srivaths LV. Hemostatic abnormalities in young females with heavy menstrual bleeding. J Pediatr Adolesc Gynecol. 2014; 27 (6): 324–9.
Amesse LS, French JA, Pfaff-Amesse T. Platelet Function Disorders in Adolescents with Heavy Menstrual Bleeding: Clinical Presentations, Laboratory Testing and Treatment Options. J Blood Disord Transfus. 2013; 5 (1): 1–5.
Benedik Dolničar M, Kralj J. Glanzmannova trombastenija. Zdrav Vestn. 1985; 54 (3): 109–12.
Kannan M, Saxena R. Glanzmann’s thrombasthenia: an overview. Clin Appl Tromb. 2009; 15 (2): 152–65.
Lecchi A, Razzari C, Paoletta S, Dupuis A, Nakamura L, Ohlmann P, et al. Identifcation of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis. Blood. 2015; 125 (6): 1006–13.
Patel YM, Lordkipanidzé M, Lowe GC, Nisar SP, Garner K, Stockley J, et al. A novel mutation in the P2Y12 receptor and a function-reducing polymorphism in protease-activated receptor 1 in a patient with chronic bleeding. J Tromb Haemost. 2014; 12 (5): 716–25.
Rolf N, Knoefler R, Bugert P, Gehrisch S, Siegert G, Kuhlisch E, et al. Clinical and laboratory phenotypes associated with the aspirin-like defect: a study in 17 unrelated families. Br J Haematol. 2009; 144 (3): 416–24.
Sandrock K, Zieger B. Current Strategies in Diagnosis of Inherited Storage Pool Defects. Transfus Med Hemoth. 2010; 37 (5): 248–58.
Özdemir N, Çelik E, Başlar Z, Celkan T. A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome. Türk Pediatri Arş. 2014; 49 (2): 163–6.
Nagai K, Ochi F, Terui K, Maeda M, Ohga S, Kanegane H, et al. Clinical characteristics and outcomes of chédiak-Higashi syndrome: a nationwide survey of Japan. Pediatr Blood Cancer. 2013; 60 (10): 1582–6.
Lozano ML, Rivera J, Sanchez-Guiu I, Vicente V. Towards the targeted management of Chdiak-Higashi syndrome. Orphanet J Rare Dis. 2014; 9: 132.
Pavlin T, Mrvič T. Sindrom Chediak-Higashi pri 15-mesečnem dečku. Zdrav Vestn. 2004; 73: 905–6.
Orel R, Zapušek J, Nosan G, Sedmak M, Kersnik Levart T. ARC sindrom–klinični primer. Gastroenterolog. 2013 (supp. 2): 180–2.
Dawood BB, Lowe GC, Lordkipanidzé M, Bem D, Daly ME, Makris M, et al. Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel. Blood. 2012; 120 (25): 5041–9.
López JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood. 1998; 91 (12): 4397–418.
Ali S, Shetty S, Ghosh K. A novel mutation in GP-1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia. Blood Coagul Fibrinolysis. 2016. In press.
Okoli S, Madan B, Mwirigi A, Moore G, Drew A, Mitchell MJ, et al. A diagnostic dilemma: variant Bernard-Soulier syndrome, a difcult clinical and genetic diagnosis. Haemoph. 2015; 21 (6):e510–513.
Giannini S, Cecchetti L, Mezzasoma AM, Gresele P. Diagnosis of platelet-type von Willebrand disease by flow cytometry. Haematologica. 2010; 95 (6): 1021–4.
Russell SD, Roth GJ. Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. Blood. 1993; 81 (7): 1787–91.
Ghosh S, Trasher AJ, Gaspar HB. Gene therapy for monogenic disorders of the bone marrow. Br J Haematol. 2015. In press.
Notarangelo LD, Mazza C, Giliani S, D’Aria C, Gandellini F, Ravelli C, et al. Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood. 2002; 99 (6): 2268–9.
Mehaffey MG, Newton AL, Gandhi MJ, Crossley M, Drachman JG. X-linked thrombocytopenia caused by a novel mutation of GATA-1. Blood. 2001; 98 (9): 2681–8.
Althaus K, Greinacher A. MYH-9 Related Platelet Disorders: Strategies for Management and Diagnosis. Transfus. Med. Hemotherapy. 2010; 37 (5): 260–7.
Sirachainan N, Komwilaisak P, Kitamura K, Hongeng S, Sekine T, Kunishima S. Te frst two cases of MYH9 disorders in Tailand: an international collaborative study. Ann Hematol. 2015; 94 (4): 707–9.
D’Andrea G, Chetta M, Margaglione M. Inherited platelet disorders: thrombocytopenias and thrombocytopathies. Blood Transfus. 2009; 7 (4): 278–92.
Liew E, Owen C. Familial myelodysplastic syndromes: a review of the literature. Haematologica. 2011; 96 (10): 1536–42.
Benedik Dolničar M, Kitanovski L, Faganel Kotnik B. Hemoflija in druge prirojene motnje strjevanja krvi – kaj mora vedeti pediater na primarni in sekundarni ravni. In: Kržišnik C, Battelino T, ur. Izbrani strokovni dosežki slovenske pediatrije. V Ljubljani: Medicinska fakulteta; Katedra za pediatrijo; 2014. (Izbrana poglavja iz pediatrije). p. 75–91.
Rodeghiero F, Tosetto A, Abshire T, Arnold DM, Coller B, James P, et al. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Tromb Haemost. 2010; 8 (9): 2063–5.
Lowe GC, Lordkipanidzé M, Watson SP, UK GAPP study group. Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders. J Tromb Haemost. 2013; 11 (9): 1663–8.
Bowman M, Mundell G, Grabell J, Hopman WM, Rapson D, Lillicrap D, et al. Generation and validation of the Condensed MCMDM-1VWD Bleeding Questionnaire for von Willebrand disease. J Tromb Haemost. 2008; 6 (12): 2062–6.
Bowman M, Riddel J, Rand ML, Tosetto A, Silva M, James PD. Evaluation of the diagnostic utility for von Willebrand disease of a pediatric bleeding questionnaire. J Tromb Haemost. 2009; 7 (8): 1418–21.
Bolton-Maggs PHB, Chalmers EA, Collins PW, Harrison P, Kitchen S, Liesner RJ, et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol. 2006; 135 (5): 603–33.
Harrison P, Mackie I, Mumford A, Briggs C, Liesner R, Winter M, et al. Guidelines for the laboratory investigation of heritable disorders of platelet function. Br J Haematol. 2011; 155 (1): 30–44.
Kottke-Marchant K, Corcoran G. Te laboratory diagnosis of platelet disorders. Arch Pathol Lab Med. 2002; 126 (2): 133–46.
Favaloro EJ, Lippi G, Franchini M. Contemporary platelet function testing. Clin Chem Lab Med. 2010; 48 (5): 579–98.
Benedik Dolničar M, Slavec B. Ocenitev primarne hemostaze z novim analizatorjem trombocitne funkcije. Med Razgl. 2009; 39 (S 5): 47–54.
Gresele P, Subcommittee on Platelet Physiology of the International Society on Trombosis and Hemostasis. Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH. J Tromb Haemost. 2015; 13 (2): 314–22.
Gresele P, Harrison P, Bury L, Falcinelli E, Gachet C, Hayward CP, et al. Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey. J Tromb Haemost. 2014; 12 (9): 1562–9.
Cattaneo M, Cerletti C, Harrison P, Hayward CPM, Kenny D, Nugent D, et al. Recommendations for the Standardization of Light Transmission Aggregometry: A Consensus of the Working Party from the Platelet Physiology Subcommittee of SSC/ISTH. J Tromb Haemost. 2013; 2013 (11): 1183–9.
Hayward CPM, Moffat KA, Pai M, Liu Y, Seecharan J, McKay H, et al. An evaluation of methods for determining reference intervals for light transmission platelet aggregation tests on samples with normal or reduced platelet counts. Tromb Haemost. 2008; 100 (1): 134–45.
Laffan M, Manning R. Investigation of haemostasis. In: Lewis M, Bain Barbara J, Bates I. Dacie and Lewis Practical Haematology. 10th ed. Elsevier; 2006; p. 427–32.
Platelet Function Testing: Light Transmission Aggregometry [LTA] [cited 2013 Aug 12]. Available from: http://practical-haemostasis.com/Platelets/platelet_function_testing_lta.html.
Juretič M. Merjenje sproščanja ATP in agregacije trombocitov z lumiagregometrom [Tesis]. Ljubljana. Ljubljana: Fakulteta za kemijo in kemijsko tehnologijo, Univerza v Ljubljani; 2012.
Gresele P, Bury L, Falcinelli E. Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation. Semin Tromb Hemost. 2016; 42 (3): 292–305.
The Author transfers to the Publisher (Zdravniški vestnik/Slovenian Medical Journal) all economic copyrights following form Article 22 of the Slovene Copyright and Related Rights Act (ZASP), including the right of reproduction, the right of distribution, the rental right, the right of public performance, the right of public transmission, the right of public communication by means of phonograms and videograms, the right of public presentation, the right of broadcasting, the right of rebroadcasting, the right of secondary broadcasting, the right of communication to the public, the right of transformation, the right of audiovisual adaptation and all other rights of the author according to ZASP.
The aforementioned rights are transferred non-exclusively, for an unlimited number of editions, for the term of the statutory
The Author can make use of his work himself or transfer subjective rights to others only after 3 months from date of first publishing in the journal Zdravniški vestnik/Slovenian Medical Journal.
The Publisher (Zdravniški vestnik/Slovenian Medical Journal) has the right to transfer the rights, acquired parties without explicit consent of the Author.
The Author consents that the Article be published under the Creative Commons BY-NC 4.0 (attribution-non-commercial) or comparable licence.
