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,Joachim Beige,Sven Kalbitz,Bernhard Lämmle,Felix Otto,Heidi Rossmann,Tanja Falter

doi:10.3389/fmed.2021.639441

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.

Highlights

Congenital or hereditary thrombotic thrombocytopenic purpura or Upshaw Schulman syndrome (USS, OMIM #274150) is a very rare disorder characterized by severe ADAMTS13 deficiency
In Congenital or hereditary thrombotic thrombocytopenic purpura (cTTP), ADAMTS13 deficiency is due to mutations in the ADAMTS13 gene
ADAMTS13 protease deficiency leads to persistence of ultra large von Willebrand factor multimers and eventually to acute thrombotic microangiopathy (TMA)

Summary

INTRODUCTION

Congenital or hereditary thrombotic thrombocytopenic purpura (cTTP) or Upshaw Schulman syndrome (USS, OMIM #274150) is a very rare disorder characterized by severe ADAMTS13 deficiency. In cTTP, ADAMTS13 deficiency is due to mutations in the ADAMTS13 gene. It is inherited as an autosomal recessive trait and accounts for

RESULTS

DISCUSSION

ETHICS STATEMENT