Inherited Antithrombin-III Deficiency Causing Mesenteric Venous Infarction

Abstract

Primary superior mesenteric venous thrombosis is sometimes preceded by peripheral thrombophlebitis. Inherited antithrombin-III deficiency is a recently recognized autosomal dominant trait, which is characterized by thrombophlebitis and pulmonary embolism. This case report illustrates many features of both entities and strongly suggest a causal relationship. While long-term therapy has yet to be established, prophylactic therapy is recommended when asymptomatic individuals with known antithrombin-III deficiency are at increased risk of thrombosis. The efficacy of heparin alone has been unreliable, whereas Coumadin has been encouraging. Antithrombin-III concentrates are being developed and theoretically should be helpful. Patients with thrombophlebitis or pulmonary embolism should be suspected of having antithrombin-III deficiency. Such individuals also represent one mechanism to explain "primary" mesenteric venous thrombosis.

Elevated factor Xa activity in the blood of asymptomatic patients with congenital antithrombin deficiency.

“…Eight kindreds were available for study where at least two people in each family had previously experienced thrombotic events. The clinical histories and laboratory evaluation of several of these families (Table I; families II, III, and VIII) have been reported previously in the literature (18,32,33). Seven of the pedigrees exhibited the "classical" antithrombin deficiency state which is caused by a reduced synthesis of biologically normal inhibitor molecules (34).…”

Familial thrombosis: inherited deficiency of antithrombin III.

“…'4 [16][17][18][19][20][21][22][23][24][25][26][27][28] The family described here, which is to our knowledge the first family with ATIII deficiency identified in the United Kingdom, showed the characteristic association of reduced ATIII concentrations and major episodes of venous thrombosis. As in the families mentioned above, the ATIII deficiency in our family was found on both functional and immnunological assays and therefore probably represented a true reduction in ATIII protein synthesis.…”

Familial venous thrombosis

“…The other sequelae of deep venous thrombosis namely chronic swelling of the legs, varicose eczema and pulmonary emboli are also common. A disturbing feature of the disease is sudden death, apparently due to pulmonary embolus, at least one instance of which is reported in many families, Egeberg, 1965;Shapiro et al, 1973;Van der Meer et al, 1973;Marciniak et al, 1974;Gruenberg et al, 1975;Filip et al, 1976;Carvalho et al, 1976;Zucker et al, 1976;Stathakis et al, 1977;Hule, 1977;Odegard et al, 1977;Rubinowitz et al, 1977;Thuot et al, 1977;Bessot et al, 1978;Gyde et al, 1978;Johansson et aL, 1978a;Juillet et al, 1978;Matsuo et al, 1979;Rey et al, 1979;Ambruso et al, 1980;Beukes et al, 1980;Boyer et al, 1980;Caille et al, 1980;Hofman et al, 1980;Leone et al, 1980;Pitney et al, 1980;Sas et at., 1980;Schander et al, 1980;Tripodi et al, 1980;Scully et al, 1981;Winter et al, 1982b. *The precise meaning of thrombophlebitis is not made clear in some reports. Figure ATIII deficiency may be diagnosed from the analysis of cord blood at birth (Schander et al, 1980) and is therefore present for many years before the onset of clinical thrombosis in most individuals (Fig.…”

“…Not withstanding the drawback of such therapy, heparin has been used for the immediate treatment of acute thrombosis in deficient patients, but a number of patients receiving such therapy in isolation have developed further thrombosis or pulmonary embo4 lism (Marciniack et aL, 1974;Gruenberg et al, 1975;Filip et al, 1976;Rey et al, 1979). In the absence of ATIII concentrates, it would be reasonable to use fibrinolytic agents in the event of life-threatening disease.…”