Ultrastructural and morphometric analysis of enlarged platelets in congenital isolated asplenia
Abstract
Abstract
Introduction. Congenital asplenia is an extremely rare condition that can be separate entity due to a specific defect of spleen development or may occur in the context of a malformation syndrome. The patients with asplenia have thrombocytosis and susceptibility to life-threatening infections. Case report. We report a 52-years-old female patient with isolated congenital asplenia with pseudothrombocytopenia and giant platelets. Estimation of platelets life with radioactive indium showed normal lenght of platelets life (9 days). Flow cytometric analysis of platelets showed normal expression of CD41 and CD42b antigens. The mean platelet diameter of asplenic patient measured on the ultrathin sections by the transmission electron microscope was significantly higher than in the healthy individuals (3.81 ± 1.16 µm vs. 2.37 ± 0.61 µm, p < 0.05). There were very few platelets of diameter more than 4 μm found in healthy individuals (around 1%) in comparison to > 40% of the patient’s platelets. The ultrastructural studies revealed normal morphology of megakaryocytes. The platelets were uniformly spheroid in shape with conspicuous pseudopodia and the centralization of granules. There were no marginal bands of microtubules inside the platelets. Conclusion. The first case of congenital asplenia with the pseudothrombocytopenia and giant platelets is presented. We discussed the pathogenesis of giant platelets and possible relation of observed ultrastructural changes of platelets with the severe three-vessel coronary artery disease in our patient.
References
REFERENCES
Mahlaoui N, Minard-Colin V, Picard C, Bolze A, Ku C, Tournilhac O, et al. Isolated congenital asplenia: French nationwide re-trospective survey of 20 cases. J Pediatr 2011; 158(1): 142– 8, 148.e1
Gilbert B, Menetrey C, Belin V, Brosset P, Lumley L, Fisher A. Familial isolated congenital asplenia: A rare, frequently he-reditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others. Eur J Pediatr 2002; 161(7): 368–72.
Vincentelli C, Molina EG, Robinson MJ. Fatal pneumococcal Waterhouse-Friderichsen syndrome in a vaccinated adult with congenital asplenia. Am J Emerg Med 2009; 27(6): 751.e3–5
Germing U, Perings C, Steiner S, Peters AJ, Heintzen MP, Aul C. Congenital asplenia detected in a 60 year old patient with sep-ticemia. Eur J Med Res 1999; 4(7): 283–5.
Chanet V, Tournilhac O, Dieu-Bellamy V, Boiret N, Spitz P, Baud O, et al. Isolated spleen agenesis: A rare cause of thrombocyto-sis mimicking essential thrombocythemia. Haematologica 2000; 85(11): 1211–3.
Rose C, Quesnel B, Facon T, Fenaux P, Jouet JP, Bauters F. Congenital asplenia, a differential diagnosis of essential thrombocythemia. Presse Med 1993; 22(34): 1748. (French)
Takahashi F, Uchida K, Nagaoka T, Honma N, Cui R, Yoshioka M, et al. Isolated congenital spleen agenesis: a rare cause of chronic thromboembolic pulmonary hypertension in an adult. Respirology 2008; 13(6): 913–5.
Italiano JE, Lecine P, Shivdasani RA, Hartwig JH. Blood platelets are assembled principally at the ends of proplatelet processes produced by differentiated megakaryocytes. J Cell Biol 1999; 147(6): 1299–312.
Tablin F, Castro M, Leven RM. Blood platelet formation in vitro. The role of the cytoskeleton in megakaryocyte fragmen-tation. J Cell Sci 1990; 97(Pt 1): 59–70.
Italiano JE, Patel-Hett S, Hartwig JH. Mechanics of proplatelet elaboration. J Thromb Haemost 2007; 5 Suppl 1: 18–23.
Thon JN, Italiano JE. Platelets: production, morphology and ul-trastructure. Handb Exp Pharmacol 2012; (210): 3–22.
Machlus KR, Thon JN, Italiano JE. Interpreting the developmen-tal dance of the megakaryocyte: A review of the cellular and molecular processes mediating platelet formation. Br J Haema-tol 2014; 165(2): 227–36.
Myerson RM, Koelle WA. Congenital absence of the spleen in an adult; report of a case associated with recurrent Water-house-Friderichsen syndrome. N Engl J Med 1956; 254(24): 1131–2.
Pretorius E, Oberholzer HM, van der Spuy WJ, Meiring JH. Ma-crothrombocytopenia: Investigating the ultrastructure of platelets and fibrin networks using scanning and transmission electron microscopy. Ultrastruct Pathol 2009; 33(5): 216–21.
Bath P, Algert C, Chapman N, Neal B. Association of mean platelet volume with risk of stroke among 3134 individuals with history of cerebrovascular disease.. Stroke 2004; 35(3): 622–6.
Slavka G, Perkmann T, Haslacher H, Greisenegger S, Marsik C, Wagner OF, Endler G. Mean platelet volume may represent a predictive parameter for overall vascular mortality and ischemic heart disease. Arterioscler Thromb Vasc Biol 2011; 31(5): 1215–8.
Maurer-Spurej E, Pfeiler G, Maurer N, Lindner H, Glatter O, Devine DV. Room temperature activates human blood platelets. Lab Invest 2001; 81(4): 581–92.