Association of Graves' disease and prekallikrein congenital deficiency in a patient belonging to the first CRM+ prekallikrein-deficient Italian family

Thromb Res. 1990 Dec 1;60(5):397-404. doi: 10.1016/0049-3848(90)90222-x.

Abstract

Severe prekallikrein (Fletcher factor) deficiency was diagnosed in a 49-year-old woman and in 3 of her siblings. Functional prekallikrein (PKK) activity was found below 1% by clotting assay and 20% by amidolytic assay in all the affected subjects; PKK cross-reacting material (CRM) was present in all the patients (antigen levels from 34% to 54%). This is the first CRM+ PKK-deficient family identified in Italy. The index patient was affected from Graves' disease: such association was previously reported in another patient with PKK congenital defect.

Publication types

  • Case Reports

MeSH terms

  • Cross Reactions
  • Female
  • Graves Disease / blood
  • Graves Disease / genetics*
  • Humans
  • Italy
  • Middle Aged
  • Prekallikrein / deficiency*
  • Prekallikrein / immunology

Substances

  • Prekallikrein