Abstract
IntroductionIntroduction: Thrombotic microangiopathies (TMAs) are rare disorders associated with fatal outcomes if left uncared for. However, healthcare problems in developing countries tend to limit medical assistance to patients.MethodsMethods: We prospectively studied an Argentine cohort of 294 consecutive patients from 2013 to 2016. Patients’ subcategory classification relied on clinical symptoms and presence or absence of trigger events associated with TMA.ResultsMain suspected disorders were the primary TMAs known as thrombotic thrombocytopenic purpura (TTP) (n = 72/294, 24%) and atypical haemolytic uraemic syndrome (aHUS) (n = 94/294, 32%). In acute phase, demographic parameters for acquired TTP (aTTP) (n = 28) and aHUS (n = 47) showed that both groups were characterised by a young median age (37 and 25 years, respectively) and female predominance (60% and 86%). Median of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 activity was significantly lower in aTTP than in aHUS group (1.4% vs 83%) and was associated with a more severe thrombocytopenia (15 × 109 vs 53 × 109/L). Creatinine (Cr) and urea (Ur) were significantly increased in aHUS compared to aTTP subjects (Cr: 3.7 vs 0.7 mg/dL, Ur: 118 vs 33 mg/dL). Gastrointestinal and neurological symptoms were more frequent in aHUS and aTTP, respectively.ConclusionThe first description of a TMA cohort in Argentina revealed similar clinical presentations to those of other countries.
Highlights
Thrombotic microangiopathies (TMAs) are rare disorders associated with fatal outcomes if left uncared for
The second step was a genetic screening of ADAMTS13 consisting in the amplification of all exons and intron-exon boundaries by polymerase chain reaction (PCR) followed by Sanger sequencing in order to identify variants causing congenital thrombotic thrombocytopenic purpura (cTTP)
TMAs are rare disorders and life-threatening entities whose diagnosis is challenging for physicians
Summary
Thrombotic microangiopathies (TMAs) are rare disorders associated with fatal outcomes if left uncared for. Median of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 activity was significantly lower in aTTP than in aHUS group (1.4% vs 83%) and was associated with a more severe thrombocytopenia (15 × 109 vs 53 × 109/L). TTP is characterised by severe acquired (aTTP) or congenital (cTTP) deficiency of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) Both forms lead to persistent ultra large von Willebrand factor multimers, platelet activation and microvascular thrombosis [5]. The triad of acute MAHA, thrombocytopenia and acute kidney injury defines HUS This syndrome is characterised by the typical form, secondary to an infection by Shiga toxin (Stx)-producing Escherichia coli (STEC) and the extremely rare atypical form (aHUS), caused by the dysregulation of the alternative pathway of the complement, leading to its activation. The aim of our study was to describe the demographic, laboratory and clinical features of an Argentine cohort of 294 consecutive patients with suspected TMA from 2013 to 2016
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