Homocystinuria and Marfan's Syndrome

Brenton, D. P.; Dow, Carol; James, J. I. P.; Hay, Robin; Wynne-Davies, Ruth

doi:10.1302/0301-620x.54b2.277

Cited by 63 publications

(32 citation statements)

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“…Since she is the only afflicted member of her family she belongs to the 15% of sporadic cases [8,30] presumably due to a spontaneous mutation. Homocystinuria could be excluded both from laboratory data and lack of debility, thrombosis, and osteoporosis with biconcave vertebrae [31,32,33]. No clinical signs could be related to Osteogenesis imperfecta or Ehlers-Danlos syndrome [34].…”

Section: Discussionmentioning

confidence: 99%

Case report and study of collagen metabolism in marfan's syndrome

et al. 1981

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The case report on a 33 year old woman with prominent features of Marfan's syndrome is presented. Characteristic signs were seen in the bones, the eyes, the cardiovascular system, and the lungs. Due to regurgitation of both the aortic and mitral valves and an aneurysm of the ascending aorta a double valve replacement was made, including a prosthesis of the aorta. The problems of early diagnosis and therapy of the life-threatening cardiovascular complications are discussed. Tissue specimens from the aorta were analysed histochemically and biochemically. Histology showed a typical necrosis of the media with cyst formation. Biochemical analysis by in vitro labeling of collagen in tissue explants and by electron microscopical evaluation showed proportions of type I and type III collagen which were significantly different from controls. In both the media and the adventitia the amount of type I collagen was drastically reduced as shown by quantitation of collagen and procollagen. Fibroblasts derived from the skin of the patient showed a normal content of type I and type III collagen. It is conceivable that the reduced content of type I collagen in the aortic wall is responsible for the weakness of the vessel wall causing formation of aneurysm and its sequelae.

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Section: Discussionmentioning

confidence: 99%

Case report and study of collagen metabolism in marfan's syndrome

et al. 1981

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“…16,18 Dublin, Manchester, and London have used homocystine. 14,15,19 Recently, some centers have started to use tHcy (Table 3). Plasma homocystine (Hcy-Hcy) is not detectable Of the 7 deaths that occurred during treatment, each of the Australian and Irish groups have 1 death (accidental poisoning and drowning) unrelated to homocystinuria.…”

Section: Biochemical Markersmentioning

confidence: 99%

Vascular Outcome in Patients With Homocystinuria due to Cystathionine β-Synthase Deficiency Treated Chronically

Yap

Boers

Wilcken

et al. 2001

ATVB

240

177

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Abstract-An inborn error of metabolism, homocystinuria due to cystathionine ␤-synthase deficiency, results in markedly elevated levels of circulating homocysteine. Premature vascular events are the main life-threatening complication. Half of all untreated patients have a vascular event by 30 years of age. We performed a multicenter observational study to assess the effectiveness of long-term homocysteine-lowering treatment in reducing vascular risk in 158 patients. Vascular outcomes were analyzed and effectiveness of treatment in reducing vascular risk was evaluated by comparison of actual to predicted number of vascular events, with the use of historical controls from a landmark study of 629 untreated patients with cystathionine ␤-synthase deficiency. The 158 patients had a mean (range) age of 29.4 (4.5 to 70) years; 57 (36%) were more than 30 years old, and 10 (6%) were older than 50 years. There were 2822 patient-years of treatment, with an average of 17.9 years per patient. Plasma homocysteine levels were markedly reduced from pretreatment levels but usually remained moderately elevated. There were 17 vascular events in 12 patients at a mean (range) age of 42.5 (18 to 67) years: pulmonary embolism (nϭ3), myocardial infarction (nϭ2), deep venous thrombosis (nϭ5), cerebrovascular accident (nϭ3), transient ischemic attack (nϭ1), sagittal sinus thrombosis (nϭ1), and abdominal aortic aneurysm (nϭ2). Without treatment, 112 vascular events would have been expected, for a relative risk of 0.09 (95% CI 0.036 to 0.228; PϽ0.0001). Treatment regimens designed to lower plasma homocysteine significantly reduce cardiovascular risk in cystathionine ␤-synthase deficiency despite imperfect biochemical control. These findings may be relevant to the significance of mild hyperhomocysteinemia that is commonly found in patients with vascular disease.

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“…6 The diagnostic criteria were much less precise than those currently accepted and used in this present study. The age range in Brenton's 'Marfan' patients was from 5 years 7 months to 31 years 11 months; we felt that our study should be limited to adults for whom a well-documented local reference population was available.…”

Section: Discussionmentioning

confidence: 64%

Osteoporosis and the Marfan syndrome

Gray

Bridges

Mole

et al. 1993

Postgraduate Medical Journal

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Fourteen patients with Marfan syndrome, defined according to present criteria, had bone mineral content of the distal forearm measured by single photon absorptiometry. Patients were matched for age and sex with a large local group of healthy volunteers. While further work is needed with other methods of densitometry with measurements at other sites, our results provide no evidence that there is an increased incidence of osteoporosis in Marfan syndrome. Previous reports of an association were probably due to incorrect clinical diagnosis or confusion with clinically similar syndromes known to cause osteoporosis.

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Homocystinuria and Marfan's Syndrome

Cited by 63 publications

References 0 publications

Case report and study of collagen metabolism in marfan's syndrome

Case report and study of collagen metabolism in marfan's syndrome

Vascular Outcome in Patients With Homocystinuria due to Cystathionine β-Synthase Deficiency Treated Chronically

Osteoporosis and the Marfan syndrome

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