Congenital thrombotic thrombocytopenic purpura in a large cohort of patients carrying a novel mutation in ADAMTS13 gene

Pikovsky, Oleg; Arafat, Maram; Ovadia, Hilla; Sharoni, Yoav; Al-Athamen, Kayed; Kanengisser-Pines, Bibi; Keren‐Politansky, Anat; Levi, Itai; Erez, Offer; Parvari, Ruti; Rabinovich, Alex

doi:10.1016/j.thromres.2019.12.002

Cited by 4 publications

(4 citation statements)

References 9 publications

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“…63 A higher prevalence has been reported for certain historically isolated regions as well as in populations with a high rate of consanguinity. 64,65 The ADAMTS13 gene is localized on chromosome 9 at position 9q34 and is the telomeric neighbor of the ABO blood group locus. Today more than 200 different ADAMTS13 mutations have been identified that spread over all ADAMTS13 protein domains.…”

Section: Ttp Diagnosis Based On Adamts13 Assaysmentioning

confidence: 99%

“…So far, information on the long-term clinical course, organ involvement, and complications of cTTP is limited. Gradually, data are beginning to appear from the International Hereditary TTP Registry (www.ttpregistry.net, ClinicalTrials.gov identifier NCT01257269; a multinational cohort study with global recruitment 67,74,78,79 ) and larger national cTTP cohorts from France, 63,70,72 the United Kingdom, 71,80 Israel, 65,77 Japan, 62,76,81,82 and Norway. 64,83 The latter three countries have enrolled (part of) their patients into the International Hereditary TTP Registry.…”

Section: Ttp Diagnosis Based On Adamts13 Assaysmentioning

confidence: 99%

“…63 A higher prevalence has been reported for certain historically isolated regions as well as in populations with a high rate of consanguinity. 64 65…”

Section: Hereditary Ttp: Clinical Manifestations and Long-term Sequelaementioning

confidence: 99%

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100 Years of Thrombotic Thrombocytopenic Purpura: A Story of Death and Life

Lämmle,

Vanhoorelbeke,

Kremer Hovinga

et al. 2024

Hamostaseologie

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One hundred years ago, in 1924, the first description of a patient with a disease, now known as thrombotic thrombocytopenic purpura (TTP) was published by Dr. Eli Moschcowitz. In honor of this report, this article, written by distinguished specialists in TTP, reviews the increase in scientific knowledge on this disease during the last 100 years. It covers the scientific progress from plasma therapy, the first beneficial treatment for TTP, to the elucidation of the pathophysiology, the discovery of ADAMTS13, the development of assays and targeted therapies up to the modern treatment concepts, that improved the outcome of TTP from an incurable disease to a well understood and treatable disorder.

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Section: Ttp Diagnosis Based On Adamts13 Assaysmentioning

confidence: 99%

Section: Ttp Diagnosis Based On Adamts13 Assaysmentioning

confidence: 99%

See 1 more Smart Citation

100 Years of Thrombotic Thrombocytopenic Purpura: A Story of Death and Life

Lämmle,

Vanhoorelbeke,

Kremer Hovinga

et al. 2024

Hamostaseologie

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“…The lack of genotypephenotype correlation is one of the main challenges in hTTP research and can be attributed to the yet unidentified hereditary and environmental modifiers. 2 Currently, there is no reliable predictor for the clinical course and complications of hTTP. Our preliminary data suggested that the nonpregnant von Willebrand factor antigen (vWF:Ag) concentrations may be associated with disease severity and pregnancy outcomes.…”

mentioning

confidence: 99%

Treatment response in congenital thrombotic thrombocytopenic purpura to aid in pregnancy counseling and management: a reply

Pikovsky

Erez

Rabinovich

2022

American Journal of Obstetrics and Gynecology

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Treatment response in congenital thrombotic thrombocytopenic purpura to aid in pregnancy counseling and management: a replyWe read with interest the letter by Drs Phelps and Kolettis and wanted to thank them for their interest in our work and our article, published in the American Journal of Obstetrics & Gynecology. 1 The management of patients with hereditary thrombotic thrombocytopenic purpura (hTTP) can be challenging, particularly because the clinical course may vary significantly even among patients sharing the same mutation in the ADAMTS13 gene. Moreover, as previously reported, the outcomes may differ in pregnancies in the same patient, often regardless of the given treatment. The lack of genotypephenotype correlation is one of the main challenges in hTTP research and can be attributed to the yet unidentified hereditary and environmental modifiers. 2 Currently, there is no reliable predictor for the clinical course and complications of hTTP. Our preliminary data suggested that the nonpregnant von Willebrand factor antigen (vWF:Ag) concentrations may be associated with disease severity and pregnancy outcomes. This is in line with previous reports on the association between vWF:Ag concentrations and the risk of stroke and cardiovascular disease. 3 However, whether the von Willebrand factor is a key player in the pathophysiology of cardiovascular disorders or just a marker of endothelial injury remains unknown. The study of the role of vWF:Ag concentrations and multimer distribution in pregnant patients with hTTP is currently under investigation by our group. Hopefully, the results of this study will assist in the identification of patients with hTTP who will not respond to standard fresh frozen plasma (FFP) treatment during pregnancy.Regular infusions of FFP are effective in preventing strokes and pregnancy complications. 4,5 However, there is no standard protocol for FFP infusions in pregnant patients with hTTP. In addition, plasma infusions may cause serious side effects and not all patients will respond well to the treatment. A potential solution may be the introduction of the recombinant ADAMTS13. 6 This treatment is currently under phase II and III clinical studies and may provide a safe and reliable therapeutic option for those high-risk patients with hTTP who are poor responders to FFP treatment.

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