Congenital markers for chronic intestinal pseudoobstruction

Am J Gastroenterol. 1995 Jun;90(6):922-6.

Abstract

Objectives: Chronic intestinal pseudoobstruction (CIP) is difficult to differentiate from true mechanical obstruction, so many patients undergo multiple operations before the diagnosis is established. This is because of a lack of easily identifiable signs and symptoms that can differentiate true intestinal obstruction from pseudoobstruction. The digital arch is the least common (10%) of the three patterns of fingerprints (arches, loops, and whorls) found in primates. Digital arches have also been reported in association with mitral valve prolapse, which in turn is associated with joint laxity. Fingerprints and mitral valve prolapse are congenital features and are influenced by heredity, so we evaluated CIP patients for coexistence of these clinical markers.

Methods: Fingerprints were examined in 1566 consecutive gastrointestinal specialty referrals. In 43 patients, the initial diagnosis of CIP was confirmed by subsequent testing. Because of the clinical impression that four features were present with increased frequency in CIP patients, these signs and symptoms were recorded prospectively: 1) number of digital arches (DA); 2) presence of mitral valve prolapse (MVP), 3) presence of joint laxity (JL), and 4) onset of constipation before age 10 (C < 10).

Results: Forty-three CIP patients (39 female, four male, ages 18-62) were seen. Using the test for significance of differences in proportions, the presence of DA, MVP, JL, and C < 10 proved significantly higher (p < 0.001) in CIP patients than in age- and sex-matched controls and the general population.

Conclusions: We conclude that: 1) CIP may be a heritable syndrome because it is associated with heritable congenital markers (DA, MVP, JL, and C < 10; 2) these markers are identified with higher frequency in CIP patients than in the general population and in age- and sex-matched patients with other gastrointestinal disorders; 3) all four markers are easily detectable, and their recognition could lead to earlier diagnosis of the disorder.

MeSH terms

  • Adolescent
  • Adult
  • Chronic Disease
  • Dermatoglyphics*
  • Female
  • Humans
  • Intestinal Pseudo-Obstruction / complications
  • Intestinal Pseudo-Obstruction / diagnosis*
  • Intestinal Pseudo-Obstruction / genetics
  • Joint Instability / complications
  • Male
  • Middle Aged
  • Mitral Valve Prolapse / complications
  • Predictive Value of Tests
  • Sensitivity and Specificity