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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):335-40ST

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.

Authors+Show Affiliations

National Center for Inherited Metabolic Disorders, The Children's Hospital, Dublin, Ireland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Review

Language

eng

PubMed ID

11011851

Citation

Yap, S, et al. "Vascular Complications of Severe Hyperhomocysteinemia in Patients With Homocystinuria Due to Cystathionine Beta-synthase Deficiency: Effects of Homocysteine-lowering Therapy." Seminars in Thrombosis and Hemostasis, vol. 26, no. 3, 2000, pp. 335-40.
Yap S, Naughten ER, Wilcken B, et al. 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.
Yap, S., Naughten, E. R., Wilcken, B., Wilcken, D. E., & Boers, G. H. (2000). Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. Seminars in Thrombosis and Hemostasis, 26(3), pp. 335-40.
Yap S, et al. 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. PubMed PMID: 11011851.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. AU - Yap,S, AU - Naughten,E R, AU - Wilcken,B, AU - Wilcken,D E, AU - Boers,G H, PY - 2000/9/30/pubmed PY - 2001/3/3/medline PY - 2000/9/30/entrez SP - 335 EP - 40 JF - Seminars in thrombosis and hemostasis JO - Semin. Thromb. Hemost. VL - 26 IS - 3 N2 - 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. SN - 0094-6176 UR - https://www.unboundmedicine.com/medline/citation/11011851/Vascular_complications_of_severe_hyperhomocysteinemia_in_patients_with_homocystinuria_due_to_cystathionine_beta_synthase_deficiency:_effects_of_homocysteine_lowering_therapy_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2000-8100 DB - PRIME DP - Unbound Medicine ER -