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

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Hämatologie (Erwachsene)

UniBE Contributor:

Kremer Hovinga, Johanna Anna and Lämmle, Bernhard

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0720-9355

Publisher:

Schattauer

Language:

English

Submitter:

Verena Zwahlen

Date Deposited:

16 Mar 2015 11:21

Last Modified:

03 Nov 2019 11:35

Publisher DOI:

10.5482/HAMO-14-03-0023

PubMed ID:

24994604

Uncontrolled Keywords:

ADAMTS13 activity ADAMTS13 mutation Hereditary TTP pregnancy

BORIS DOI:

10.7892/boris.64615

URI:

https://boris.unibe.ch/id/eprint/64615

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