Епидемиология на придобитата тромботична тромбоцитопенична пурпура

  • Костадин Костадинов
  • Георги Стефанов
  • Георги Искров
  • Румен Стефанов
Keywords: придобита тромботична тромбоцитопенична пурпура, епидемиология, болестност

Abstract

Придобитата тромботична тромбоцитопенична пурпура (пТТП) представлява рядко заболяване с разнообразна клинична манифестация, включваща фебрилитет, анемия, тромбоцитопения, неврологична симптоматика и остро бъбречно увреждане. Познато и описано първоначално през 1924 г., днес са известни патофизиоимунологичните аспекти, отличаващи го от другите тромботични васкулопатии и служещи за таргет на иновативни терапии. ТТП се разделя на наследствена и придобита форма. Придобитата може да бъде идиопатична или вторична. Актуалната класификация на Световната здравна организация дефинира ТТП към категорията на тромботичните микроангиопатии.

Изучаването на епидемиологията на пТТП представлява труден процес поради редица обективни фактори. Заболяването се характеризира със специфичен лабораторен имунологичен панел, който често е материално-технически необезпечено изследване за редица клинични центрове. Наличието на тежки клинични презентации, често срещани коморбидности и бърза летална прогресия са също пречка за установяване на реалната болестност.

Настоящата публикация има за цел да анализира епидемиологични данни за пТПП и да представи оценка за разпространението на това заболяване в България.

References

Moschcowitz E. Hyaline thrombosis of the terminal arterioles and capillaries: a hitherto undescribed disease. Proc N Pathol Soc. 1924; 24:21-24.

Gasser C, Gautier E, Steck A, Siebenmann RE, Oechslin R. Hemolytic-uremic syndrome: bilateral necrosis of the renal cortex in acute acquired hemolytic anemia. Schweiz Med Wochenschr 1955;85: 905–9.

Moake JL, Rudy CK, Troll JH, et al. Unusually large plasma factor VIII:von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. N Engl J Med. 1982; 307(23):1432-1435. DOI: https://doi.org/10.1056/NEJM198212023072306

Asada Y, Sumiyoshi A, Hayashi T, Suzumiya J, Kaketani K. Immunohistochemistry of vascular lesion in thrombotic thrombocytopenic purpura, with special reference to factor VIII related antigen. Thromb Res. 1985;38(5):469-479. DOI: https://doi.org/10.1016/0049-3848(85)90180-X

Rock GA, Shumak KH, Buskard NA, et al; Canadian Apheresis Study Group. Comparison of plasma exchange with plasma infusion in the treatment of thrombotic thrombocytopenic purpura. N Engl J Med. 1991;325(6):393-397. DOI: https://doi.org/10.1056/NEJM199108083250604

Furlan M, Robles R, L¨ammle B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood. 1996;87(10):4223-4234. DOI: https://doi.org/10.1182/blood.V87.10.4223.bloodjournal87104223

Furlan M, Robles R, Galbusera M, et al. von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. N Engl J Med. 1998;339(22):1578-1584. DOI: https://doi.org/10.1056/NEJM199811263392202

Tsai HM, Lian EC. Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med. 1998; 339(22):1585-1594. DOI: https://doi.org/10.1056/NEJM199811263392203

Levy GG, Nichols WC, Lian EC, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001;413(6855):488-494. DOI: https://doi.org/10.1038/35097008

Soejima K, Mimura N, Hirashima M, et al. A novel human metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease? J Biochem. 2001;130(4):475-480. DOI: https://doi.org/10.1093/oxfordjournals.jbchem.a003009

Veyradier A, Obert B, Houllier A, Meyer D, Girma JP. Specific von Willebrand factor-cleaving protease in thrombotic microangiopathies: a study of 111 cases. Blood. 2001;98(6):1765-1772. DOI: https://doi.org/10.1182/blood.V98.6.1765

Bianchi V, Robles R, Alberio L, Furlan M, L¨ammle B. Von Willebrand factor-cleaving protease (ADAMTS13) in thrombocytopenic disorders: a severely deficient activity is specific for thrombotic thrombocytopenic purpura. Blood. 2002;100(2):710-713. DOI: https://doi.org/10.1182/blood-2002-02-0344

Zheng XL, Kaufman RM, Goodnough LT, Sadle JE. Effect of plasma exchange on plasma ADAMTS13 metalloprotease activity, inhibitor level, and clinical outcome in patients with idiopathic and nonidiopathic thrombotic thrombocytopenic purpura. Blood. 2004;103(11): 4043-4049. DOI: https://doi.org/10.1182/blood-2003-11-4035

Sarig, G. (2014). ADAMTS-13 in the Diagnosis and Management of Thrombotic Microangiopathies. Rambam Maimonides Medical Journal, 5(4), e0026. doi:10.5041/rmmj.10160 DOI: https://doi.org/10.5041/RMMJ.10160

Agosti, P., Mancini, I., Artoni, A., Ferrari, B., P Yenerel, M. N. (2014).ontiggia, S., Trisolini, S. Peyvandi, F. (2019). The features of acquired thrombotic thrombocytopenic purpura occurring at advanced age. Thrombosis Research. doi:10.1016/j.thromres.2019.10.010 DOI: https://doi.org/10.1016/j.thromres.2019.10.010

Scully M, Yarranton H, Liesner R, et al. Regional UK TTP registry: correlation with laboratory ADAMTS 13 analysis and clinical features. Br J Haematol. 2008;142(5):819-826. DOI: https://doi.org/10.1111/j.1365-2141.2008.07276.x

Fujimura Y, Matsumoto M. Registry of 919 patients with thrombotic microangiopathies across Japan: database of Nara Medical University during 1998-2008. Intern Med. 2010; 49(1):7-15 DOI: https://doi.org/10.2169/internalmedicine.49.2706

Jang MJ, Chong SY, Kim I-H, et al. Clinical features of severe acquired ADAMTS13 deficiency in thrombotic thrombocytopenic purpura: the Korean TTP registry experience. Int J Hematol. 2011;93(2):163-169

Blombery P, Kivivali L, Pepperell D, et al; TTP registry steering committee. Diagnosis and management of thrombotic thrombocytopenic purpura (TTP) in Australia: findings from the first 5 years of the Australian TTP/thrombotic microangiopathy registry. Intern Med J. 2016;46(1):71-79.

Mariotte E, Azoulay E, Galicier L, et al; French Reference Center for Thrombotic Microangiopathies. Epidemiology and pathophysiology of adulthood-onset thrombotic microangiopathy with severe ADAMTS13 deficiency (thrombotic thrombocytopenic purpura): a cross-sectional analysis of the French national registry for thrombotic microangiopathy. Lancet Haematol. 2016;3(5): e237-e245. DOI: https://doi.org/10.1016/S2352-3026(16)30018-7

George JN, Vesely SK, Terrell DR. The Oklahoma Thrombotic Thrombocytopenic Purpura-Hemolytic Uremic Syndrome (TTPHUS) Registry: a community perspective of patients with clinically diagnosed TTP-HUS. Semin Hematol. 2004;41(1):60-67. DOI: https://doi.org/10.1053/j.seminhematol.2003.10.001

Peedin, A. R., Park, Y. A., Mazepa, M. A., Rollins-Raval, M. A., Brecher, M. E., & Raval, J. S. (2018). Predictive Value of Schistocytes in Recurrence of Acquired Thrombotic Thrombocytopenic Purpura With Severe ADAMTS13 Deficiency at Discontinuation of Daily Therapeutic Plasma Exchange. Therapeutic Apheresis and Dialysis. doi:10.1111/1744-9987.12713 DOI: https://doi.org/10.1111/1744-9987.12713

Jang MJ, Chong SY, Kim I-H, et al. Clinical features of severe acquired ADAMTS13 deficiency in thrombotic thrombocytopenic purpura: the Korean TTP registry experience. Int J Hematol. 2011;93(2):163-169. DOI: https://doi.org/10.1007/s12185-011-0771-5

Deford CC, Reese JA, Schwartz LH, et al. Multiple major morbidities and increased mortality during long-term follow-up after recovery from thrombotic thrombocytopenic purpura. Blood. 2013;122(12):2023-2029, quiz 2142.

Blombery P, Kivivali L, Pepperell D, et al; TTP registry steering committee. Diagnosis and management of thrombotic thrombocytopenic purpura (TTP) in Australia: findings from the first 5 years of the Australian TTP/thrombotic microangiopathy registry. Intern Med J. 2016;46(1):71-79. DOI: https://doi.org/10.1111/imj.12935

Veyradier A, editor PTT: épidémiologie de la cohorte du CNR-MAT sur 16 ans. Compte rendu de la 8è réunion du CNR-MAT; 2015 10/16/2015; Paris2015. (abstract in English)

Benhamou Y, Boelle P-Y, Baudin B, et al; Reference Center for Thrombotic Microangiopathies; Experience of the French Thrombotic Microangiopathies Reference Center. Cardiac troponin-I on diagnosis predicts early death and refractoriness in acquired thrombotic thrombocytopenic purpura. J Thromb Haemost. 2015;13(2):293-302. DOI: https://doi.org/10.1111/jth.12790

Zafrani L, Mariotte E, Darmon M, et al. Acute renal failure is prevalent in patients with thrombotic thrombocytopenic purpura associated with low plasma ADAMTS13 activity. J Thromb Haemost. 2015;13(3):380-389. DOI: https://doi.org/10.1111/jth.12826

Scully, M., Hunt, B. J., Benjamin, S., Liesner, R., Rose, Peyvandi, F. (2012). Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies. British Journal of Haematology, 158(3), 323–335. doi:10.1111/j.1365-2141.2012.09167

Remuzzi G, Galbusera M, Noris M, Canciani MT, Daina E, Bresin E, Contaretti S, Caprioli J, Gamba S, Ruggenenti P, Perico N, Mannucci PM; Italian Registry of Recurrent and Familial HUS/TTP. Thrombotic thrombocytopenic purpura/hemolytic uremic syndrome. von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. Blood. 2002 Aug 1;100(3):778-85. doi: 10.1182/blood-2001-12-0166. PMID: 12130486. DOI: https://doi.org/10.1182/blood-2001-12-0166

Remuzzi G. Is ADAMTS-13 deficiency specific for thrombotic thrombocytopenic purpura? No. J Thromb Haemost. 2003 Apr;1(4):632-4. doi: 10.1046/j.1538-7836.2003.00170.x. PMID: 12871391. DOI: https://doi.org/10.1046/j.1538-7836.2003.00170.x

Mancini, I., Pontiggia, S., Palla, R., Artoni, A., Valsecchi, C Carla Valsecchi Barbara Ferrari Danijela Mikovic Flora Peyvandi (2019). Clinical and Laboratory Features of Patients with Acquired ThromboticThrombocytopaenic Purpura: Fourteen Years of the Milan TTP Registry. Thrombosis and Haemostasis. doi:10.1055/s-0039-1679907 DOI: https://doi.org/10.1055/s-0039-1679907

НСИ. Население и демографски процеси през 2019г. https://www.nsi.bg/sites/default/files/files/pressreleases/Population2019_XE8MEZL.pdf

Coppo P. (2015, February) Immune-mediated thrombotic thrombocytopenic purpura. DOI: https://doi.org/10.1182/asheducation-2015.1.637

www.orpha.net/consor/cgibin/Disease_Search.php?lng=EN&data_id=12423&disease=Immune-mediated-thrombotic-thrombocytopenic purpura &search= Disease_Search_ Simple достъпен на 09.08.2020г.

Miesbach, W., Menne, J., Bommer, M., Schönermarck, U., Feldkamp, T., Nitschke, Schwander, B. (2019). Incidence of acquired thrombotic thrombocytopenic purpura in Germany: a hospital level study. Orphanet Journal of Rare Diseases, 14(1). doi:10.1186/s13023-019-1240-0 DOI: https://doi.org/10.1186/s13023-019-1240-0

Pascual, Cristina & del Rio-Garma, Julio & Rubia, Javier & Viejo, Aurora & Fernandez-Sojo, Jesus & Martin, Jesus & Solanich, Xavier & Candel, Faustino & Hernandez, Luis & Fernandez, Marta & Oliva, Ana & Garcia-Gala, Jose & Mingot, María & Gómez-Seguí, I. & Goterris, Rosa & Calviño, Michael & Antelo, María & Sanchez, Sol & Moreno, Jose & Salinas, Ramon. (2019). Incidence, Diagnosis, and Outcome of Acquired Thrombotic Thrombocytopenic Purpura (aTTP): A Nationwide Survey By the Spanish Apheresis Group. Blood. 134. 4910-4910. 10.1182/blood-2019-123258.

Тромботична-тромбопенична пурпура на Moschkovic I. Dikov. Detski i infekts. bolesti MP, 2, 2010, N 2, ISSN 1313-762X, с. 39. Имунна тромбоцитопенична пурпура J. Dimitrova, I. Kalev. Obshta meditsina, 2, 2000, No 3, 32-37, 2 tab. Sum. Bulg., Engl. 24 ref., 2000

Тромботична тромбоцитопенична пурпура - синдром на Moschcowitz L. Gercheva, N. Tsvetkov, L. Jordanova, B. Tsvetkov, E. Marinov, I. Khristova, T. Betova. Suvr. med., 45, 1994, No 4, 9-12, 3 fig. Sum. Bulg., Engl. 5 ref., 1994, ISSN: 0562-7192

Троботична тромбоцитопенична пурпура I. Chakarski, G. Dimov, V. Vrachev, J. Karakolev. Suvr. med., 53, 2002, No 4, 33-36. Sum. Bulg., Engl. 14 ref., 2002

Клинико-имунологични изследвания при имунната тромбоцитопенична пурпура в детска възраст: дисертационен труд, Веселина Иванова Кендерова (автореферат)

Методични указания за диагностициране, лечение и проследяване на пациенти със заболявания на кръвта и кръвотворните органи, вер. 2, май 2011, Българско научно дружество по клинична и трансфузионна хематология http://bulgarian-hematology.com/documents_hematology/METODICHNI_17_10_2011.pdf

Allford, S.L.,et al.(2003). Guidelines on the diagnosis and management of the thrombotic microangiopathic anaemias. Brit J Heam 120, 556-73. DOI: https://doi.org/10.1046/j.1365-2141.2003.04049.x

Published
2020-10-16
How to Cite
1.
Костадинов К, Стефанов Г, Искров Г, Стефанов Р. Епидемиология на придобитата тромботична тромбоцитопенична пурпура. Редки болести и лекарства сираци [Internet]. 2020Oct.16 [cited 2020Dec.4];11(3):36-4. Available from: https://journal.raredis.org/index.php/RBLS/article/view/122
Section
Статии

Most read articles by the same author(s)

1 2 3 4 > >>