Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review

J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.


Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy related to a severe deficiency of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13). In this article, we describe the first case of a young male adult suffering from a hereditary TTP revealed by recurrent strokes, relapsing despite antiplatelet and anticoagulant therapy. Because of the persistent moderate thrombocytopenia, plasmatic ADAMTS13 activity was investigated and was found lower than 5% in the absence of anti-ADAMTS13 IgG. Direct sequencing of ADAMTS13 gene led to the diagnosis of Upschaw-Schulman syndrome (USS). Inherited TTP or USS is a rare autosomal recessive inherited disease leading to a severe deficiency of ADAMTS13 mostly beginning in childhood or in young female adult during pregnancy. Our patient was treated with fresh frozen plasma every 2 weeks. One year after diagnosis, he was free of neurological symptoms. Around 12 cases of inherited TTP diagnosed in adults (outside pregnancy) are described in literature. Only 4 of them exhibited a stroke. This case is the first late onset genetic TTP revealed by recurrent strokes, moderate thrombocytopenia without anemia.

Keywords: Stroke; neurogenetic; thrombocytopenia ADAMTS13; thrombotic thrombocytopenic purpura.

Publication types

  • Case Reports
  • Review

MeSH terms

  • ADAMTS13 Protein / deficiency
  • ADAMTS13 Protein / genetics*
  • Adult
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Plasma
  • Polymorphism, Single Nucleotide*
  • Purpura, Thrombotic Thrombocytopenic / complications
  • Purpura, Thrombotic Thrombocytopenic / diagnosis
  • Purpura, Thrombotic Thrombocytopenic / genetics*
  • Purpura, Thrombotic Thrombocytopenic / therapy
  • Recurrence
  • Risk Factors
  • Stroke / diagnosis
  • Stroke / etiology*
  • Treatment Outcome


  • ADAMTS13 Protein
  • ADAMTS13 protein, human