[MIM 274 150]

(familial thrombotic microangiopathy, familial thrombotic thrombocytopenic purpura)

Rare. Following a mutation of the ADAMST13 gene on 9q34.2, deficiency in ADAMST13 metalloproteinase which reduces the metamers of the von Willebrand factor. This results in an homozygous or compound heterozygous  thrombotic microangiopathy with hemolytic anemia (schistocytes), thrombocytopenia, focal involvement of certain organs (sometimes a hemolytic-uremic syndrome) and fever. Evolution by crises that begin in early childhood.

Treatment: administration of plasma.

Anesthetic implications:

check the platelet count and renal function

References:

•        George JN, Nester CM. 
  Syndromes of thrombotic microangiopathy. 
  NEJM 2014; 371: 654-66.

Updated: September 2018