Diagnosis of Hereditary TTP Caused by Homozygosity for a Rare Complex ADAMTS13 Allele After Salmonella Infection in a 43-Year-Old Asylum Seeker

Ralph Wendt; Sven Kalbitz; Felix Otto; Tanja Falter; Joachim Beige; Heidi Rossmann; Bernhard Lämmle

doi:10.3389/fmed.2021.639441

Diagnosis of Hereditary TTP Caused by Homozygosity for a Rare Complex ADAMTS13 Allele After Salmonella Infection in a 43-Year-Old Asylum Seeker

Front Med (Lausanne). 2021 Feb 26:8:639441. doi: 10.3389/fmed.2021.639441. eCollection 2021.

Authors

Ralph Wendt^{1

2}, Sven Kalbitz², Felix Otto³, Tanja Falter⁴, Joachim Beige^{1

2

5}, Heidi Rossmann⁴, Bernhard Lämmle^{6

7

8}

Affiliations

¹ Division of Nephrology and Kuratorium for Dialysis and Transplantation (KfH) Renal Unit, Hospital St. Georg, Leipzig, Germany.
² Department of Infectious Diseases, Nephrology and Rheumatology, Hospital St. Georg, Leipzig, Germany.
³ Institute of Applied Dermatopharmacy, Martin-Luther-University Halle/Wittenberg, Halle, Germany.
⁴ Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany.
⁵ Department of Nephrology und Rheumatology, Internal Medicine II, Martin-Luther-University Halle/Wittenberg, Halle, Germany.
⁶ Center for Thrombosis and Hemostasis, University Medical Center Mainz, Mainz, Germany.
⁷ Department of Hematology and Central Hematology Laboratory, Inselspital Bern University Hospital, University of Bern, Bern, Switzerland.
⁸ Haemostasis Research Unit, University College London, London, United Kingdom.

Abstract

A 43-year-old Armenian patient was diagnosed with salmonella infection and thrombotic microangiopathy (TMA). The clinical course was benign with resolution of all laboratory alterations after antibiotic treatment. Constantly deficient ADAMTS13 activity without ADAMTS13 inhibitors and evidence of homozygosity for a rare complex ADAMTS13 allele led to the diagnosis of congenital thrombotic thrombocytopenic purpura (cTTP). Half-life of ADAMTS13 after plasma infusion was calculated (27,6h) and double blinded plasma infusion as well as ergometric exercise with and without prior plasma infusion undertaken to investigate suspected smoldering TTP activity.

Keywords: ADAMTS13; TMA; Upshaw Schulman syndrome; cTTP; hereditary TTP.