Novel Mutation of Upshaw-Schulman Syndrome Associated with Coarctation of Aorta in Palestinian Child

Mahdi Zaid 1 * , Sultan Musleh 2, Tahani Sarrawi 2, Maysa Alawneh 1, Reem Sawafta 1, Honood AbuRas 3
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1 Department of Paediatrics, An-Najah National University Hospital, Nablus, Palestine
2 Department of Paediatric Haematology-Oncology, AnNajah National University Hospital, Nablus, Palestine
3 Department of Histopathology, An-Najah National University Hospital, Nablus, Palestine
* Corresponding Author
J CLIN MED KAZ, Volume 1, Issue 55, pp. 27-31. https://doi.org/10.23950/1812-2892-JCMK-00749
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ABSTRACT

Upshaw-Schulman syndrome is a rare inherited form of thrombotic thrombocytopenic purpura disease caused by deficiency of ADAMTS13 and reversible by fresh frozen plasma infusions. Unlike the more common acquired thrombotic thrombocytopenic purpura, patient with Upshaw-Schulman syndrome generally presents early life with a repeated episodes of microangiopathic haemolytic anaemia, usually triggered by acute illness. There are few reported cases about congenital thrombotic thrombocytopenic purpura and long term prognosis.   
We describe a 16 months old Palestinian male patient with history of severe neonatal jaundice, microangiopathic haemolytic anaemia and thrombocytopenia triggered by febrile illness associated with facial palsy as neurological manifestation favoured congenital thrombotic thrombocytopenic purpura. Low ADAMTS13 level and improvement in platelet counts after fresh frozen plasma infusion with novel mutation of Leu209Pro in exon 6 of the ADAMTS13 gene confirmed the diagnosis of congenital thrombotic thrombocytopenic purpura in our patient who later on developed coarctation of aorta suggested thrombotic complication of ADAMTS13/VWF missing axis dysfunction.
Keywords: Upshaw-Schulman syndrome (USS), congenital thrombotic thrombocytopenic purpura (TTP), novel mutation, ADAMTS13, von Willebrand factor, coarctation of aorta

CITATION

Zaid M, Musleh S, Sarrawi T, Alawneh M, Sawafta R, AbuRas H. Novel Mutation of Upshaw-Schulman Syndrome Associated with Coarctation of Aorta in Palestinian Child. Journal of Clinical Medicine of Kazakhstan. 2020;1(55):27-31. https://doi.org/10.23950/1812-2892-JCMK-00749

REFERENCES

  • Fujimura, Yoshihiro, et al. Von Willebrand Factor-Cleaving Protease and Upshaw-Schulman Syndrome. International journal of hematology. 2002; 75(1):25-34.‏ https://doi.org/10.1007/BF02981975
  • Zheng, Xinglong, et al. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. Journal of Biological Chemistry. 2001. 276(44):41059-4106
  • ‏ https://doi.org/10.1074/jbc.C100515200 3. Pérez-Rodríguez, Almudena, et al. Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review. Thrombosis research. 2014; 134(6):1171-1175.‏ https://doi.org/10.1016/j.thromres.2014.09.004
  • Sadler, J. E. von Willebrand factor assembly and secretion. Journal of Thrombosis and Haemostasis. 2009; 7:24-27.‏ https://doi.org/10.1111/j.1538-7836.2009.03375.x
  • Schulman, Irving, et al. Studies on thrombopoiesis: II. Assay of human plasma thrombopoietic activity. The Journal of pediatrics. 1965; 66(3):604-612.‏ https://doi.org/10.1016/S0022-3476(65)80124-X
  • Upshaw Jr, Jefferson D. Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia. New England Journal of Medicine. 1978; 298(24):1350-1352.‏ https://doi.org/10.1056/NEJM197806152982407
  • Joly, Bérangère S., et al. ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome. Thrombosis and haemostasis. 2018; 118(11):1902-1917.‏ https://doi.org/10.1055/s-0038-1673686
  • Schneppenheim, Reinhard, et al. A common origin of the 4143insA ADAMTS13 mutation. Thrombosis and haemostasis. 2006; 96(07):3-6.‏ https://doi.org/10.1160/TH05-12-0817
  • Kokame, Koichi, et al. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factorcleaving protease activity. Proceedings of the National Academy of Sciences. 2002; 99(18):11902-11907.‏ https://doi.org/10.1073/pnas.172277399
  • Crawley, James TB, et al. Unraveling the scissile bond: how ADAMTS13 recognizes and cleaves von Willebrand factor. Blood. 2011; 118(12):3212-3221.‏ https://doi.org/10.1182/blood-2011-02-306597
  • Sadler, J. Evan. What's new in the diagnosis and pathophysiology of thrombotic thrombocytopenic purpura. ASH Education Program Book. 2015; 2015(1):631-636.‏ https://doi.org/10.1182/asheducation-2015.1.631
  • Nokes, Timothy, et al. Pulmonary involvement in patients with thrombotic thrombocytopenic purpura. European journal of haematology. 2014; 92(2):156-163.‏ https://doi.org/10.1111/ejh.12222
  • Furlan, Miha, Bernhard Lämmle. Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome: the role of von Willebrand factor-cleaving protease. Best practice & research Clinical haematology. 2001; 14(2):437-454.‏ https://doi.org/10.1053/beha.2001.0142
  • Yagi, Hideo, Masanori Matsumoto, Yoshihiro Fujimura. Paradigm shift of childhood thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency. La Presse Médicale. 2012; 41(3):e137-e155.‏ https://doi.org/10.1016/j.lpm.2011.10.027
  • Lotta, Luca A., et al. Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. Blood. 2012; 120(2):440-448.‏ https://doi.org/10.1182/blood-2012-01-403113
  • Scully, Marie, et al. Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies. British journal of haematology. 2012; 158(3):323-335.‏ https://doi.org/10.1111/j.1365-2141.2012.09167.x
  • Dawod, Muath, Mohammad Alhyari, Philip Kuriakose. Patterns of Clinical Presenations of Thrombotic Thrombocytopenic Purpura in Plasma Exchange Era. 2012; 4642-4642.‏ https://doi.org/10.1182/blood.V120.21.4642.4642
  • Deschênes, Georges, et al. Plasma therapy in von Willebrand factor protease deficiency. Pediatric Nephrology. 2002; 17(10):867-870.‏ https://doi.org/10.1007/s00467-002-0944-9
  • Loirat, Chantal, et al. Thrombotic thrombocytopenic purpura associated with von Willebrand factor-cleaving protease (ADAMTS13) deficiency in children. Seminars in thrombosis and hemostasis. 2006; 32(02).‏ https://doi.org/10.1055/s-2006-939764
  • George, James N. Forecasting the future for patients with hereditary TTP. Blood. 2012; 120(2):243-244.‏ https://doi.org/10.1182/blood-2012-05-427419
  • Jin, Sheng-Yu, et al. Genetic ablation of Adamts13 gene dramatically accelerates the formation of early atherosclerosis in a murine model. Arteriosclerosis, thrombosis, and vascular biology. 2012; 32(8):1817-1823.‏ https://doi.org/10.1161/ATVBAHA.112.247262
  • Gandhi, Chintan, et al. ADAMTS13 reduces vascular inflammation and the development of early atherosclerosis in mice. Blood. 2012; 119(10):2385-2391.‏ https://doi.org/10.1182/blood-2011-09-376202
  • Chauhan, Anil K., et al. ADAMTS13: a new link between thrombosis and inflammation. Journal of Experimental Medicine. 2008; 205(9):2065-2074.‏ https://doi.org/10.1084/jem.20080130 
  • De Maeyer, Bauke, et al. The distal carboxyterminal domains of murine ADAMTS13 influence proteolysis of platelet‐decorated VWF strings in vivo. Journal of Thrombosis and Haemostasis. 2010; 8(10):2305-2312.‏ https://doi.org/10.1111/j.1538-7836.2010.04008.x
  • Chauhan, Anil K., et al. Systemic antithrombotic effects of ADAMTS13. Journal of Experimental Medicine. 2006; 203(3):767-776.‏ https://doi.org/10.1084/jem.20051732
  • Mannucci, Pier Mannuccio, et al. Changes in health and disease of the metalloprotease that cleaves von Willebrand factor. Blood. 2001; 98(9):2730-2735.‏ https://doi.org/10.1182/blood.V98.9.2730
  • Mannucci, Pier Mannuccio, Flora Peyvandi. TTP and ADAMTS13: when is testing appropriate? ASH Education Program Book. 2007; 2007(1):121-126.‏ https://doi.org/10.1182/asheducation-2007.1.121
  • Peyvandi, F., et al. ADAMTS‐13 assays in thrombotic thrombocytopenic purpura. Journal of Thrombosis and Haemostasis. 2010; 8(4):631-640.‏ https://doi.org/10.1111/j.1538-7836.2010.03761.x
  • Meyer, Sara Christina, et al. Hyperbilirubinemia interferes with ADAMTS‐13 activity measurement by FRETS‐VWF73 assay: diagnostic relevance in patients suffering from acute thrombotic microangiopathies. Journal of thrombosis and haemostasis. 2007; 5(4):866-867.‏ https://doi.org/10.1111/j.1538-7836.2007.02438.x
  • Starke, Richard, et al. The clinical utility of ADAMTS13 activity, antigen and autoantibody assays in thrombotic thrombocytopenic purpura. British journal of haematology. 2007; 136(4):649-655.‏ https://doi.org/10.1111/j.1365-2141.2006.06471.x
  • Sadler, J. Evan. Von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura. Blood. 2008; 112(1):11-18.‏ https://doi.org/10.1182/blood-2008-02-078170
  • Camilleri, R. S., et al. A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom. Journal of Thrombosis and Haemostasis. 2012; 10(9): 1792-1801.‏ https://doi.org/10.1111/j.1538-7836.2012.04852.x
  • Scully, Marie, et al. A phase 2 study of the safety and efficacy of rituximab with plasma exchange in acute acquired thrombotic thrombocytopenic purpura. Blood. 2011; 118(7):1746-1753.‏ https://doi.org/10.1182/blood-2011-03-341131
  • Zwicker, Jeffrey I., et al. Adjuvant low-dose rituximab and plasma exchange for acquired TTP. Blood. 2019. https://doi.org/10.1182/blood.2019000795
  • George, James N. Congenital thrombotic thrombocytopenic purpura: Lessons for recognition and management of rare syndromes. Pediatric Blood And Cancer. 2008; 50(5):947.‏ https://doi.org/10.1002/pbc.21481