Arterial Thrombosis and Accelerated Atheroma in a Member of a Family with Familial Antithrombin III Deficiency J

Postgrad Med J: first published as 10.1136/pgmj.58.676.108 on 1 February 1982. Downloaded from Postgraduate Medical Journal (February 1982) 58, 108-109 Arterial thrombosis and accelerated atheroma in a member of a family with familial antithrombin III deficiency J. WINTER D. DONALD B.Sc., M.B., Ch.B., M.R.C.P. M.B., M.R.C.Path. B. BENNETT A. S. DOUGLAS M.D., M.R.C.P. M.D., D.Sc., F.R.C.P. Departments ofMedicine and Pathology, University ofAberdeen, Aberdeen Royal Infirmary, Foresterhill, Aberdeen AB9 2ZB Summary cigarette smoker. After his death, his mother, 4 of his The case is described of a young man with probable siblings and others in his family were found to have familial antithrombin III deficiency, a disorder ATIII deficiency and have been described previously associated with a marked predisposition to venous (Mackie et al., 1978). thrombo-embolic events. In addition to a history of Protected by copyright. venous thrombosis and pulmonary embolism, at Post-mortem findings post-mortem this patient demonstrated widespread The upper half of the body was deeply jaundiced, arterial thrombosis and atheroma. The probable the lower half paler. association of severe arterial thrombosis and atheroma Heart: Both ventricles were enlarged, 2 areas of with a clearly definable coagulation disorder pre- healed infarction were present, the mitral valve was disposing to thrombosis is of interest. sclerosed and incompetent, the aortic valve sclerosed and stenosed. Introduction Arteries: There was extensive atheroma of the Antithrombin III (ATIII) is the major physio- aorta and vessels arising from it including the logical inhibitor of the coagulation mechanism coronary arteries. The aorta was totally occluded (Barrowcliffe, Johnson and Thomas, 1978). Patients by thrombus from the coeliac axis to the femoral with familial ATIII deficiency show a marked pre- vessels and partially occluded up to diaphragmatic disposition to venous thrombo-embolism. The level. Coeliac, mesenteric and renal arteries were authors describe a young man with probable occluded and marked atheroma present in the http://pmj.bmj.com/ familial ATIII deficiency in whom recurrent severe pulmonary arteries. arterial thrombosis and atherosclerosis occurred Veins: The inferior vena cava was occluded by in addition. thrombus at the right renal vein level. Hepatic, splenic, portal and mesenteric veins were occluded Case report by thrombus. The patient died in 1970 aged 30 years. In 1962 Abdominal viscera: the bowel showed widespread he had sustained a pulmonary embolism and received infarction: liver, kidneys and spleen showed anticoagulants. In 1962 and 1966 he developed numerous infarcted areas, venous thrombi and on September 28, 2021 by guest. thrombophlebitis of both legs, and in 1967 right arterial atheroma. brachial artery occlusion occurred; albuminuria was noted. Bilateral varicose veins were noted in Discussion 1968, with stasis ulcers; albuminuria persisted. In Hereditary ATIII deficiency is one of the very few 1969 and 1970 pulmonary embolism recurred, chest biochemically definable states universally accepted X-ray showing biventricular enlargement. In March as predisposing to thrombosis. The existence of the 1970 congestive cardiac failure developed, aortic deficiency in this man cannot be established with systolic and diastolic murmurs being noted. In certainty now, but the symptoms together with the December 1970 severe abdominal pain occurred and findings of the deficiency in his mother and siblings he died after a brief admission. His blood pressure suggest strongly that he, too, was ATIII deficient. and blood sugar were normal throughout; he was a Previous reports of ATIII deficiency emphasize the 0032-5473/82/0200-0108 $02.00 () 1982 The Fellowship of Postgraduate Medicine Postgrad Med J: first published as 10.1136/pgmj.58.676.108 on 1 February 1982. Downloaded from Clinical reports 109 predisposition to venous thrombosis shared by this abnormalities into the arterial tree in this man but patient and his relatives (Egeberg, 1965). This man cannot be defined retrospectively. showed, in addition, severe arterial thrombosis not previously recorded except in 2 newborn children of Acknowledgments ATIII-deficient mothers (Biarke, Herin and Blom- We are grateful to Professor A. R. Currie of the Depart- ment of Pathology, University of Edinburgh, who provided back, 1974). Additionally, this man showed wide- details of the spread severe atheroma at the age of 30 years, in pathology of this patient. the absence of the commoner predisposing factors References such as hypertension or diabetes (his lipoprotein BARROWCLIFFE, T.W., JOHNSON, E.A. & THOMAS, D. (1978) profile is unfortunately unknown). Predisposition Antithrombin and heparin. British Medical Bulletin, 34, to atheroma, like arterial thrombosis, has not 143. BJARKE, B., HERIN, P. & BLOMBACK, M. (1974) Neonatal previously been recorded in patients deficient in aortic thrombosis. Acta paediatrica scandinavica, 63, 297. ATIII. Both findings, namely arterial thrombosis EGEBERG, 0. (1965) Inherited antithrombin deficiency and atheroma in association with a plasma ab- causing thrombophilia. Thrombosis et diathesis haemorr- normality favouring thrombosis, are of interest. hagica, 13, 516. MACKIE, M., BENNETT, B., OGSTON, D. & DOUGLAS, A.S. Clearly a factor additional to the ATIII deficiency (1978) Familial thrombosis: inherited deficiency of anti- must be invoked to account for the extension of thrombin III. British Medical Journal, 1, 136. Protected by copyright. http://pmj.bmj.com/ on September 28, 2021 by guest..

Load more