Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen

Am J Med Genet. 1989 Sep;34(1):68-71. doi: 10.1002/ajmg.1320340113.

Abstract

Serum levels of procollagen type III aminopropeptide (P-III-NP), a peptide released during conversion of type III procollagen to collagen, were abnormally low in six of 10 patients with Ehlers-Danlos syndrome (EDS) type IV (arterial-ecchymotic type) and low-normal in 4. The serum P-III-NP levels correlated with the amount of type III procollagen secreted by the patients' cultured fibroblasts. Serum P-III-NP determination is a simple test that identifies a major subgroup of patients with this life-threatening, dominantly inherited connective tissue disorder and may be especially helpful in making the diagnosis in children.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Cells, Cultured
  • Child
  • Ehlers-Danlos Syndrome / blood*
  • Ehlers-Danlos Syndrome / classification
  • Female
  • Fibroblasts / metabolism
  • Humans
  • Male
  • Middle Aged
  • Peptide Fragments / blood*
  • Peptide Fragments / metabolism
  • Procollagen / blood*
  • Procollagen / metabolism

Substances

  • Peptide Fragments
  • Procollagen
  • procollagen Type III-N-terminal peptide