Severe thrombophilic diathesis starting with hepatic vein thrombosis (BUDD-CHIARI syndrome) in a family with a new Protein S gene mutation

Acta Gastro-Enterologica Belgica

Volumn 69, Issue 1, 2006, Pages 20-24

  Gruselle, Paul ^a   Ooghe, P ^a   Cauchie, P ^a   Van Der Cruyssen, G ^b  

^a Centre Hospitalier Universitaire de Charleroi   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALBUMIN; ALKALINE PHOSPHATASE; AMINOPHENAZONE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; GAMMA GLUTAMYLTRANSFERASE; IMMUNOGLOBULIN; PROTEIN S; PROTHROMBIN;

ADULT; ARTICLE; ASCITES; BREATH ANALYSIS; BUDD CHIARI SYNDROME; CASE REPORT; CHROMOSOME 3; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; DOPPLER ECHOGRAPHY; ESOPHAGUS VARICES; FAMILY HISTORY; GASTROSCOPY; GENE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; LEG THROMBOSIS; LIVER BIOPSY; LIVER FUNCTION TEST; LUNG EMBOLISM; MALE; NAIL DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PORTAL PHLEBOGRAPHY; PROPHYLAXIS; PROS 1 GENE; PROTEIN S DEFICIENCY; PROTHROMBIN TIME; THROMBOPHILIA;

ADULT; COMBINED MODALITY THERAPY; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FATAL OUTCOME; GENETIC PREDISPOSITION TO DISEASE; HEMATOLOGIC TESTS; HEPATIC VEIN THROMBOSIS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PEDIGREE; PURPURA, THROMBOTIC THROMBOCYTOPENIC; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY, X-RAY COMPUTED; ULTRASONOGRAPHY, DOPPLER;

EID: 33645684310     PISSN: 00015644     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. JANSSEN H.L., GARCIA-PAGEN J.C., ELIAS E., MENTHA G., HADENGUE A., VALLA D.C. Budd-Chiari syndrome: a review by an expert panel. Journal of Hepatology, 2003, 38: 364-371.
2. JANSSEN H.L., MEINARDI J.R., VLEGGAAR F.P., VAN UUM S.H., HAAGSMA E.B. VAN DER MEER F.J., VEN HATTUM J., CHAMULEAU R.A., ADANG R.P., VANDENBROUCKE J.P., VAN HOEK B., ROSENDAAL F.R. Factor V Leiden mutation, prothrombin gene Smutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study. Blood, 2000, 96: 2364-8.
3. DENNINGER M.H., CHAIT Y., CASADEVALL N., HILLAIRE S., GUILLIN M.C., BEZEAUD A., ERLINGER S., BRIERE J., VALLA D. Cause of portal or hepatic venous thrombosis in adults: the role of multiple concurrent factors. Hepatology, 2000, 31: 587-91.
4. DE B.K., DE K.K., SEN S., BISWAS P.K., DAS T.K., HAZRA B. Etiology based prevalence of Budd-Chiari syndrome in eastern India. J. Assoc. Physicians India, 2000, 48: 800-3.
5. MENON N., SHAH V., KAMATH P. The Budd-Chiari syndrome. N. Engl. J. Med., 2004, 350: 578-585.
6. MOHANTY D., SHETTY S., GHOSH K., PAWAR A., ABRAHAM P. Hereditary thrombophilia as a cause of Budd-Chiari syndrome: a study from Western India. Hepatology, 2001, 34: 666-670.
7. VALLA D., CASADEVALL N., LACOMBE C., VARET B., GOLDWASSER E., FRANCO D., MAILLARD J.N., PARIENTE E.A., LEPORRIER M., RUEFF B., MULLER O., BENHAMOU J.P. (Clichy, Paris, Villejuif, Colombes, Orléans and Caen, France). Primary myeloproliferative disorder and hepatic vein thrombosis. A prospective study of erythroid colony formation in vitro in 20 patients with Budd-Chiari syndrome. Ann. Intern. Med., 1985, 103: 329-334.
8. MURAD S.D., VALLA D.-CH., DE GROEN P.C., ZEITOUN G., HOPMANS J.A.M., HAAGSMA E.B., VAN HOEK B., HANSEN B.E., ROSENDAAL FR.R., JANSSEN H.L.A. Determinants of survival and the effect of portosystemic shunting in patients with Budd-Chiari syndrome. Hepatology, 2004, 39: 500-508.
9. ZETOUN G., ESCOLANO S., HADENGUE A., AZAR N., EL. YOUNSI M., MALLET A., BOUDET M.J., HAY J.M., ERLINGER S., BENHAMOU J.P., BELGHITI J., VALLA D. Outcome of Budd-Chiari syndrome: a multivariate analysis of factors related to survival including surgical portosystemic shunting. Hepatology, 1999, 30: 84-89.
10. LANGLET P., ESCOLANO S., VALLA D., COSTE-ZEITOUN D., DENIE C., MALLET A., LEVY V.G., FRANCO D., VINEL J.P., BELGHITI J., LEBREC D., HAY J.M., ZEITOUN G. Clinicopathological forms and prognostic index in Budd-Chiari syndrome. J. Hepatol., 2003, 39: 496-501.
11. VALLA D. The diagnosis and management of the Budd-Chiari syndrome: consensus and controversies. Hepatology, 2003, 38: 793-803.
12. VALLA D. Vascular disorders of the liver. Acta Gastroenterol. Belg., 2003, 66: 294-297.
13. FAIONI ELENA M., VALSECCHI C., PALLA A., TAIOLI E., RAZZARI C., MANNUCCI PIER MANNUCCIO. Free protein S deficiency is a risk factor for venous thrombosis. Thromb. Haemost., 1997, 78: 1343-1346.
14. BORGEL D., GANDRILLE S., AIACH M. Protein S deficiency. Thromb. Haemost., 1997, 78: 351-6.
15. MESSIAEN L., CALLENS T., BAELE G. Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method. Haemostasis, 1997, 27: 228-236.
16. SCHUETZE S.M., LINENBERGER M. Acquired protein S deficiency with multiple thrombotic complications after orthotopic liver transplant. Transplantation, 1999, 27: 1366-9.
17. GANDRILLE S., BORGEL D., SALA N., ESPINOSA-PARRILLA Y., SIMMONDS R., REZENDE S., LIND B., MANNHALTER C., PABINGER I., REITSMA P.H., FORMSTONE C., COOPER D.N., SAITO H., SUZUKI K., BERNARDI F., AIACH M., Plasma coagulation inhibitors subcommittee of the scientific and standardization committee of the international society on thrombosis and haemostatis. Protein S deficiency: a database of mutations - summary of the first update. Thromb. Haemost., 2000, 84: 918.
18. CAZALS-HATEM D., VILGRAIN V., GENIN P., DENNINGER M.H., DURAND F., BELGHITI J., VALLA D., DEGOTT C. Arterial and portal circulation and parenchymal changes in Budd-Chiari syndrome: a study in 17 explanted livers. Hepatology. 2003, 37: 510-9.
19. HIRSHBERG B., SHOUVAL D., FIBACH E., FRIEDMAN G., BEN-YEHUDA D. Flow cytometric analysis of autonomous growth of erythroid precursors in liquid culture detects occult polycythemia vera in the Budd-Chiari syndrome. J. Hepatol., 2000, 32: 574-578.
20. HAZELRIGG D.E., DUNCAN W.C., JARRATT M. Twenty-nail dystrophy of childhood. Arch. Derm., 1977, 113: 73-75.
21. PAVONE L., LI VOLTI S., GUARNERI B., LA ROSA M., SORGE G., INCORPORA G., MOLLICA F. Hereditary twenty-nail dystrophy in a Sicilian family. J. Med. Genet., 1982, 19: 337-340.
22. THOMPSON H.B. Hereditary dystrophy of the nails. JAMA, 1928, 91: 1547.
23. TOBIAS N. Hereditary familial dystrophy of the nails. JAMA. 1925, 84: 1568-1569.
24. MAKRIS M., LEACH M., BEAUCHAMP N.J., DALY M.E., COOPER P.C., HAMPTON K.K., BAYLISS P., PEAKE I.R., MILLER G.J., PRESTON E. Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. Blood, 2000, 95: 1935-1941.
25. ESPINOSE-PARILLA Y., YAMAZAKI T., SALA N., DAHLBACK B., DE FRUTOS P.G. Protein S secretion differences of missense mutants account for phenotypic heterogeneity. Blood, 2000, 95: 173-179.
26. ANDERSEN B.D., BISGAARD M., LIND B., PHILIPS M., VILLOUTREIX B., THORSEN S. Characterisation and structural impact of five novel PROSI mutations in eleven Protein S-deficient families. Thromb. Haemost., 2001, 86: 1392-9.
27. ALMAZY L., SORIA J., SOUTO C., COLL I., BACQ D., FAURE A., MATEO J., BORREL M., MUNOZ X., SALA N., STONE W.H., LATHROP M., FONTCUBERTA J., BLANGERO J. Genetic analysis of idiopathic thrombophilia project. A quantitative trait locus influencing Free plasma Protein S levels on human chromosome 1q: results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) project. Arterioscler. Thromb. Vasc. Biol., 2003, 23: 508-511. Epub, 2003 Jan 9.
28. REZNDE S., LANE D., ZÖLLER B., MILLE-BAKER B., LAFFAN M., DAHLBACK B., SIMMONDS R.E. Genetic and phenotypic variability between families with Hereditary protein S deficiency. Thromb. Haemost., 2002, 87: 258-65.
29. SCHUETZE S.M., LINENBERGER M. Acquired protein S deficiency with multiple thrombotic complications after orthotopic liver transplant. Transplantation. 1999, 67: 1366-69.
30. CAMPANELLI A., KAYA G., OZSAHIN A.H., LA SCALA G., JACQUIER C., STAUFFER M., BOEHLEN F., DE MOERLOOSE P., SAURAT J.H. Purpura fulminans in a child as a complication of chickenpox infection. Dermatology, 2004, 208: 262-4.
31. BERGSRUD E., GANDHI P. A review of the clinical uses of Ximelagatran in thrombosis syndromes. J Thromb Thrombolysis., 2003, 16: 175-88.
32. SALAM A.M., AL-MOUSA E.N. The therapeutic potential of ximelagatran to become the anticoagulant of choice in medicine: a review of recently completed clinical trials. Expert. Opin. Pharmacother., 2004, 5: 1423-30.