Work

Hereditary TTP in pregnant saudi lady with family history of TTP

Year: 2024

Type: article

Abstract: Hereditary Thrombotic thrombocytopenic purpura (also known as Upshaw–Schulman syndrome) is a life-threatening haematological disorder caused by mutation in ADAMTS13 gene encoding von Willebrand factor (vWF)-cleaving protease result in microthrombi formation, which leads to end-organ ischaemia and damage.1,2 Hereditary TTP accounting for less than 5% of all TTP cases, has an approximate incidence of one case per million per year. Despite being inherited disorders, cases can have a late presentation in adulthood triggered by predisposing factors such as infection and pregnancy.3,4 We are reporting a case with Hereditary TTP in 26-year-old pregnant Saudi lady, with positive family history of TTP 26 years old primigravida (15 weeks) presented to our emergency department with ecchymotic patches in bilateral forearms and anterior aspects of both thighs for 1week. Family history showed that two of her sisters diagnosed with TTP one of them died at age of 23 years while she was pregnant (cause of death unknown) On admission she was afebrile with no focal neurological deficits, she had eechymotic patches on both forearms and anterior aspects of both thighs. laboratory data Revealed thrombocytopenia Platelets 21,000/µL picture of haemolytic anaemia (Haemoglobin 9.5 g/dL, indirect bilirubin 1.10 mg/dL, lactate dehydrogenase 643 U/L, reticulocyte count 5.1%, haptoglobin2 mg/dL, Direct anti globulin (DAT) negative. peripheral blood smear showed Normocytic normochromic anaemia, mild poikilocytosis and some fragmented RBCs (4%). Mild absolute neutrophilia with moderate shift to left. Mild thrombocytopenia. Management with Plasmapheresis (4 session) in addition to pulse steroid for 3 days followed by prednisolone 1 mg/kg daily for 3 weeks. patient improved and platelet increase to 203,000/µL, and discharged home after 8 days of hospitalisation. after 3 weeks, she readmitted with severe thrombocytopenia and haemolytic anaemia, complicated with pulmonary haemorrhage, she was transferred to tertiary Hospital where mechanically ventilated, and underwent total of 28 session of plasma exchange Her case was discussed in multidisciplinary team and decision was made to terminate her pregnancy, she received pulse steroid and rituximab two doses, improved and discharged home Genetic testing for ADAMTS 13 genes mutation was send and came positive for homozygote for ADAMTS 13 gene c.3070 T>G Hereditary TTP is an autosomal recessive with a rare gene frequency, some affected families may have a history of consanguinity, and the incidence of hereditary TTP may be greater in populations in which consanguinity is common.5,6 The expert's haematologist from GCC countries demonstrated that there are no reliable registry data regarding the incidence of TTP in GCC countries, they recommended to conduct a multicentre study to assess the real epidemiology of TTP in GCC countries.7 Hereditary TTP is a rare haematological disorder that is almost always fatal if appropriate treatment is not initiated promptly.8 With the limited Data from GCC country, this case report will help in conducting multicentre studies to assess the real epidemiology of TTP in GCC countries and also emphasises the need for a local registry to facilitate proper diagnosis and treatment for this rare disorder. Zheng XL. ADAMTS13 and von Willebrand factor in thrombotic thrombocytopenic purpura. Annu Rev Med. (2015) 66:211–25. doi: 10.1146/annurev-med-061813-013241 PubMed Abstract | CrossRef Full Text | Google Scholar Tersteeg C, Verhenne S, Roose E, Schelpe AS, Deckmyn H, De Meyer SF, et al. ADAMTS13 and anti-ADAMTS13 autoantibodies in thrombotic thrombocytopenic purpura-current perspectives and new treatment strategies. Exp Rev Hematol. (2016) 9:209–21. doi: 10.1586/17474086.2016.1122515 PubMed Abstract | CrossRef Full Text | Google Scholar Tenison E, Asif A, Sheridan M. Congenital thrombotic thrombocytopenic purpura presenting in adulthood with recurrent cerebrovascular events. BMJ Case Rep. 2019 Oct 3;12(10):e229481. doi: 10.1136/bcr-2019-229481. PMID: 31585956; PMCID: PMC6781964. Terrell DR, Vesely SK, Kremer Hovinga JA, Lämmle B, George JN. Different disparities of gender and race among the thrombotic thrombocytopenic purpura and hemolytic-uremic syndromes. Am J Hematol. 2010 Nov;85(11):844-7. [PMC free article] [PubMed] [Reference list] Hasan F, Gupta A, Chandra D, et al. Congenital ADAMTS-13 deficiency presenting as life-threatening thrombosis during pregnancy BMJ Case Reports CP 2021;14: e239901. The Hereditary Thrombotic Thrombocytopenic Purpura Registry. Available from: http://www.ttpregistry.net/html/home. Al-Khabori M, Alsayegh F, Al Yaseen H, Hussien S, Lal A, Al Rasheed M, Al Bader M, Al Kindi S, Marashi M. The Challenges in Diagnosis and Management of Acquired Thrombotic Thrombocytopenic Purpura: Consensus Report from Three Gulf Countries. Oman Med J. 2022 Jul 31;37(4):e407. doi: 10.5001/omj.2022.32. PMID: 35949714; PMCID: PMC9358329. Cox EC. Thrombotic thrombocytopenic purpura: report of three additional cases and a short review of the literature. J S C Med Assoc. 1966 Dec;62(12):465-70. [PubMed] [Reference list] Bell WR, Braine HG, Ness PM, Kickler TS. 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Source: Clinical Medicine

DOI: 10.1016/j.clinme.2024.100081

Authors: Amal Elimam, Amani Elimam, Khalid Khalil

Institution: Société française d'histoire maritime

Language: Chinese

Topic: Complement system in diseases

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,500