Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy

Epperla, Narendranath; Hemauer, Kathleen; Friedman, Kenneth D.; George, James N.; Foy, Patrick

doi:10.1002/ajh.24311

Cited by 14 publications

(10 citation statements)

References 20 publications

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“…A patient with a homozygous mutation in exon4 was reported by Meyer et al [17];they suggested that mutations in the metalloprotease domain may lead to a first TTP bout in young adulthood, rather than in early childhood. Therefore, in comparison to previous reports, the neonatal onset in our case may be attributable to the nonsense mutation in TSP1-7 [24][25][26][27];however, the phenotype-genotype correlation of ADAMTS13 has not been established partly because of the rarity of homozygous cases [5,20,[28][29][30][31][32].…”

Section: Discussioncontrasting

confidence: 67%

“…Our patient showed early onset of symptoms such as jaundice, thrombocytopenia, and anaemia. However, there are several case reports where in the patient suffered the first episode during adolescence, adulthood, or even in old age; moreover, the disease severity also showed considerable variability [24][25][26]. The heterogeneity in phenotype is not clearly explained by the difference in genotype.…”

Section: Discussionmentioning

confidence: 93%

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Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report

Hou

2020

BMC Med Genet

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Background: Mutations in the ADAMTS13 gene family have been reported to cause congenital thrombotic thrombocytopenic purpura (cTTP), a rare disease characterized by thrombocytopenia and hemolytic anemia. Nearly 150 causative mutations in ADAMTS13 have been identified; however, only a few of them were detected in Chinese patients. Case presentation: A 5-year-old Chinese boy presented with history of thrombocytopenic purpura, hemolytic anemia, and renal injury since the neonatal period. Gene analysis revealed two novel mutations in ADAMTS13: a missense mutation 332G > A (p:Gly111Glu) in exon4 and a nonsense mutation 3121C > T (p:Gln1041stop) in exon 24. Genetic analysis of his parents confirmed the heterozygous nature of the mutations. Conclusion: We report two novel mutations in ADAMTS13 (332G > A, 3121C > T) in a Chinese boy. These two mutations may lead to early onset of cTTP and severe symptoms.

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Section: Discussioncontrasting

confidence: 67%

Section: Discussionmentioning

confidence: 93%

Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report

Hou

2020

BMC Med Genet

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“…However, these FFP dosages are insufficient during pregnancy in patients with cTTP. The FFP infusion dosage should be increased according to the trough level of ADAMTS13, as described by Epperla et al 30 They proposed that an ADAMTS13 activity trough level of 10% was necessary for successful delivery. Although the optimal ADAMTS13 level and its timing (trough or peak) during pregnancy have not been confirmed yet, based on the experiences of pregnancies no.…”

Section: Discussionmentioning

confidence: 99%

Success and limitations of plasma treatment in pregnant women with congenital thrombotic thrombocytopenic purpura

Sakai

Fujimura

Nagata

et al. 2020

Journal of Thrombosis and Haemostasis

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Background: Congenital thrombotic thrombocytopenic purpura (cTTP), otherwise known as Upshaw-Schulman syndrome, is an extremely rare hereditary disease. Pregnancy is identified as a trigger for TTP episodes in patients with cTTP. Objectives: To investigate the ideal management of pregnant patients with cTTP. Patients/Methods: We identified 21 patients with a reproductive history (38 pregnancies) in a Japanese cTTP registry. Fetal outcomes were compared between two groups: group 1 (n = 12), pregnancy after diagnosis of confirmed cTTP by ADAMTS13 gene analysis; and group 2 (n = 26), pregnancy before diagnosis of confirmed cTTP. Results: In group 1, ADAMTS13 activity was closely monitored until delivery in most cases. Among 10 pregnancies in group 1, prophylactic fresh frozen plasma (FFP) infusions during pregnancy were performed to replenish ADAMTS13. In group 2, prophylactic FFP infusions were not administrated in 23 pregnancies and FFP test infusions were performed in only three pregnancies. The live birth rate of group 1 was significantly higher than that of group 2 (91.7% vs 50.0%, respectively, P = .027).

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“…Prophylactic plasma can provide effective protection from TTP exacerbation throughout pregnancy for women with previously diagnosed hereditary TTP. The amount of plasma and the frequency of infusions is adjusted to maintain a safe level of ADAMTS13 activity (considered to be >10%) 16 or simply to maintain the woman's unique normal platelet count 17 . The requirement for plasma increases during pregnancy as the risk for thrombosis increases.…”

Section: Discussionmentioning

confidence: 99%

Thrombotic thrombocytopenic purpura masquerading as preclampsia with severe features at 13 weeks' gestation

et al. 2020

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Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy

Cited by 14 publications

References 20 publications

Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report

Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report

Success and limitations of plasma treatment in pregnant women with congenital thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura masquerading as preclampsia with severe features at 13 weeks' gestation

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