Late onset and pregnancy-induced congenital thrombotic thrombocytopenic purpura.

Falter, T; Kremer Hovinga, Johanna Anna; Lackner, K; Füllemann, H-G; Lämmle, Bernhard; Scharrer, I (2014). Late onset and pregnancy-induced congenital thrombotic thrombocytopenic purpura. Hämostaseologie, 34(3), pp. 244-248. Schattauer 10.5482/HAMO-14-03-0023

Text 2014_Hamostaseologie 2014 Aug 5_34_3_244_Late onset and pregnancy-induced congenital thrombotic thrombocytopenic purpura.pdf - Published Version Restricted to registered users only Available under License Publisher holds Copyright. Download (766kB)

UNLABELLED

We report on our patient (case 2) who experienced a first acute episode of thrombotic thrombocytopenic purpura (TTP) at the age of 19 years during her first pregnancy in 1976 which ended in a spontaneous abortion in the 30th gestational week. Treatment with red blood cell concentrates was implemented and splenectomy was performed. After having suffered from several TTP episodes in 1977, possibly mitigated by acetylsalicylic acid therapy, an interruption and sterilization were performed in 1980 in her second pregnancy thereby avoiding another disease flare-up. Her elder sister (case 1) had been diagnosed with TTP in 1974, also during her first pregnancy. She died in 1977 during her second pregnancy from a second acute TTP episode.

DIAGNOSIS

In 2013 a severe ADAMTS13 deficiency of <10% without detectable ADAMTS13 inhibitor was repeatedly found. Investigation of the ADAMTS13 gene showed that the severe ADAMTS13 deficiency was caused by compound heterozygous ADAMTS13 mutations: a premature stop codon in exon 2 (p.Q44X), and a missense mutation in exon 24 (p.R1060W) associated with low but measurable ADAMTS13 activity.

CONCLUSION

Genetic analysis of the ADAMTS13 gene is important in TTP patients of all ages if an ADAMTS13 inhibitor has been excluded.

Interest & Impact

Downloads

2 since deposited on 16 Mar 2015
0 in the past 12 months

Citations

5 Citations in Web of Science ®
6 Citations in Scopus

Search

in Google Scholar™

Services

Actions (login required)

Edit item

Actions (login required)

Edit item