Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy

Semin Thromb Hemost. 2000;26(3):335-40. doi: 10.1055/s-2000-8100.

Abstract

Homocystinuria (HCU) due to cystathionine beta-synthase (CBS) deficiency leads to severe hyperhomocysteinemia (HHcy). Vascular events (VE) remain the major cause of morbidity and mortality in the untreated patients with HCU. The study on the natural history of untreated HCU disclosed that, at the time of maximal risk, in other words beyond 10 years old, there was one event per 25 years. Recent studies from Australia (n = 32), The Netherlands (n = 28), and Ireland (n = 24) have documented the effects of long-term treatment on the vascular outcome of a total of 84 patients with 1314 patient-years of treatment for HCU. The mean (range) age was 27.8 (2.5 to 70) years. Five VE were recorded during treatment; one pulmonary embolism, two myocardial infarctions, and two abdominal aneurysms. All five VE occurred in B6-responsive patients at a mean (range) age of 48.8 (30 to 60) years. In 1314 patient-years of treatment, 53 VE would have been expected if they remained untreated; instead only 5 were documented, relative risk = 0.091 (95% confidence interval [CI] 0.043 to 0.190; p < 0.001). Appropriate homocysteine-lowering therapy for severe HHcy significantly reduced the vascular risk in patients with HCU. VE were rare with treatment despite the fact that the post-treatment homocysteine levels were several times higher than the cutoff point for homocysteine in the normal population. The present findings may have relevance to the current concept of "mild HHcy" as a risk factor for vascular disease, with elevated plasma homocysteine levels considerably lower than that of the post-treatment levels in this group of reported patients.

Publication types

  • Comparative Study
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Australia / epidemiology
  • Child
  • Child, Preschool
  • Cohort Studies
  • Cystine / therapeutic use
  • Drug Resistance
  • Female
  • Folic Acid / therapeutic use
  • Follow-Up Studies
  • Genetic Predisposition to Disease
  • Homocysteine / metabolism
  • Homocystinuria / blood
  • Homocystinuria / complications*
  • Homocystinuria / genetics
  • Humans
  • Hyperhomocysteinemia / complications*
  • Hyperhomocysteinemia / diet therapy
  • Hyperhomocysteinemia / drug therapy
  • Infant
  • Ireland / epidemiology
  • Male
  • Methionine / administration & dosage
  • Middle Aged
  • Netherlands / epidemiology
  • Pyridoxine / therapeutic use
  • Risk
  • Risk Factors
  • Thrombophilia / epidemiology
  • Thrombophilia / etiology*
  • Thrombophilia / prevention & control
  • Vascular Diseases / epidemiology
  • Vascular Diseases / etiology*
  • Vascular Diseases / prevention & control
  • Vitamin B 12 / therapeutic use

Substances

  • Homocysteine
  • Cystine
  • Folic Acid
  • Methionine
  • Pyridoxine
  • Vitamin B 12