Abstract
We describe a family in which four generations (eight members) had deep vein thrombosis of the lower limb and three of the alive members had documented hyperhomocysteinemia. In addition, one of the family members had evidence of arterial thrombosis in the form of cerebral infarcts. Interestingly, all affected members in the family were males.
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Amundsen T, Ueland PM, Waage A (1995) Plasma homocysteine levels in patients with deep vein thrombosis. Arterioscler Thromb Vasc Biol 15:1321–1333
Cattaneo M, Martinelli I, Mannucci PM (1996) Hyperhomocysteinemia as a risk for deep vein thrombosis. N Engl J Med 335:974–975
den Hejier M, Blom HJ, Gerrits WBJ, Rosendaal FR, Haak HL, Wijer mans PW, Bos GMJ (1995) Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis? Lancet 345:882–885
den Heijer M, Keijzer MB (2001) Hyperhomocysteinemia as a risk factor for venous thrombosis. Clin Chem Lab Med 39:710–713
den Heijer M, Koster T, Blom HJ, Bos GMJ, Briet E, Reitsma PH, Vanderbroucke JP, Rosendaal FR (1996) Hyperhomocysteinemia as a risk factor for deep vein thrombosis. N Engl J Med 334:759–762
De Stefano V, Casorelli I, Rossi E, Zappacosta B, Leone G (2000) Interactions between hyperhomocysteinemia and inherited thrombophilic factors in venous thromboembolism. Semin Thromb Hemost 26:305–311
Falcon CR, Cattaneo M, Panzeri D, Martinelli I, Mannucci PM (1994) High prevalence of hyperhomocyst (e) inemia in patients with juvenile venous thrombosis. Arterioscler Thormb 14:1080–1083
Froost P, Blom HJ, Milos R. Goyette P, Sheppard CA, Mathews RG, Boers GHJ, den Heijer M, Kluijtmans LAJ, Van den Heuvel LP, Rozen R (1995) A candidate genetic factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111–113
Kluijtmans LAJ, van den Heuvel LPWJ, Boers GHJ, Frosst P, Stevens EMB, Van Oost BA, den Heijer M, Trijbels FJM, Rozen RI (1996) Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in methylene tetrahydrofolate reducatase gene is a genetic risk factor for cardiovascular disease . Am J Hum Genet 58:35–41
Mc.Cully KS (1969) Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. Am J Pathol 56:111–128
Simioni P, Pradoni P, Burlina A, Tromene D, Sardella C, Ferrari V, Beneditti L, Girolami A (1996) Hyperhomocysteinemia and deep vein thrombosis. A case control study. Thromb Haemost 76:883–886
Ueland PM, Refsum H, Stabler SP, Malinow MR, Andersson A, Allen RH (1993) Total homocysteine in plasma or serum: methods and clinical applications. Clin Chem 39:1764–1779
Wilcken DEL, Wilcken B (1997) The natural history of vascular disease in homocystinuria and the effects of treatment. J Inher Metab Dis 20:295–300
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Gupta, M., Gupta, S., Saxena, R. et al. Familial hyperhomocysteinemia: multiple venous thrombosis in four generations of a family. Ann Hematol 82, 178–180 (2003). https://doi.org/10.1007/s00277-002-0596-7
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DOI: https://doi.org/10.1007/s00277-002-0596-7