Annual incidence and severity of acute episodes in hereditary thrombotic thrombocytopenic purpura. Blood 2021 Jun 24;137(25):3563-3575
Date
03/03/2021Pubmed ID
33649760DOI
10.1182/blood.2020009801Scopus ID
2-s2.0-85106725094 (requires institutional sign-in at Scopus site) 35 CitationsAbstract
Hereditary thrombotic thrombocytopenic purpura (hTTP) is a rare thrombotic microangiopathy characterized by severe congenital ADAMTS13 deficiency and recurring acute episodes causing morbidity and premature death. Information on the annual incidence and severity of acute episodes in patients with hTTP is largely lacking. This study reports prospective data on 87 patients from the Hereditary TTP Registry (clinicaltrials.gov #NCT01257269) for survival, frequency, and severity of acute episodes from enrollment until December 2019. The 87 patients, followed up for a median of 4.2 years (range, 0.01-15 years), had a median age at overt disease onset and at clinical diagnosis of 4.6 years and 18 years (range, 0.0-70 years for both), respectively. Forty-three patients received regular plasma prophylaxis, whereas 22 did not, and treatment changed over time or was unknown in the remaining 22. Forty-three patients experienced 131 acute episodes, of which 91 (69%) occurred in patients receiving regular prophylaxis. This resulted in an annual incidence of acute episodes of 0.36 (95% confidence interval [CI], 0.29-0.44) with regular plasma treatment and of 0.41 (95% CI, 0.30-0.56) without regular plasma treatment. More than one-third of acute episodes (n = 51) were documented in children <10 years of age at enrollment and were often triggered by infections. Their annual incidence of acute episodes was significantly higher than in patients aged >40 years (1.18 [95% CI, 0.88-1.55] vs 0.14 [95% CI, 0.08-0.23]). The prophylactic plasma infusion regimens used were insufficient to prevent acute episodes in many patients. Such regimens are burdensome, and caregivers, patients, and their guardians are reluctant to start regular plasma infusions, from which children particularly would benefit.
Author List
Tarasco E, Bütikofer L, Friedman KD, George JN, Hrachovinova I, Knöbl PN, Matsumoto M, von Krogh AS, Aebi-Huber I, Cermakova Z, Górska-Kosicka M, Jalowiec KA, Largiadèr CR, Prohászka Z, Sinkovits G, Windyga J, Lämmle B, Kremer Hovinga JAAuthor
Kenneth D. Friedman MD Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Age of Onset
Aged
Blood Component Transfusion
Child
Child, Preschool
Female
Genetic Diseases, Inborn
Humans
Infant
Infant, Newborn
Male
Middle Aged
Plasma
Purpura, Thrombotic Thrombocytopenic
Registries
Severity of Illness Index
