title: Primary thrombophilia in Mexico. V. A comprehensive prospective study indicates that most cases are multifactorial.
abstract: Over a 36-month period, 46 consecutive Mexican mestizos with a clinical marker associated with a primary hypercoagulable state were prospectively assessed by searching for the sticky platelet syndrome (SPS), the activated protein C resistance (aPCR) phenotype, coagulation protein C activity and antigen, coagulation protein S, antithrombin III, plasminogen, tissue-type plasminogen activator activity, plasminogen activator inhibitor activity, plasminogen activator inhibitor type 1, IgG and IgM isotypes of antiphospholipid antibodies, homocysteine levels, the factor V gene Leiden, Cambridge, Hong Kong, and Liverpool mutations, the 677 C-->T mutation in the 5,10-methylenetetrahydrofolatereductase (MTHFR), and the G20210A polymorphism in the 3'-untranslated region of the prothrombin gene. Of the 46 consecutive patients prospectively accrued in the study, only 12 (26%) were males, the median age being 38 years (range 10-63 years). In only four individuals (8%) could we not record any abnormality. In 5/42 patients with abnormal results (12%), a single abnormality was recorded, whereas in the remaining 37, two to five co-existing abnormalities were identified. We found 22 (48%) patients with the SPS, 11 (24%) with the aPCR phenotype, 5 (11%) with the factor V Leiden mutation, 7 (15%) with the prothrombin gene mutation, 29 (63%) with the MTHFR gene mutation, 11 (24%) with the factor V HR2 haplotype, 11 (24%) with antiphospholipid antibodies, 4 (9%) with PS deficiency, 6 (13%) with PC deficiency, one with the FV Hong Kong mutation, and one with AT-III deficiency. The results are consonant with the idea that most cases of thrombophilia in Mexico are multifactorial.
authors.affiliation: Centro de Hematología y Medicina Interna de Puebla, Puebla, Mexico. gruiz1@clinicaruiz.com
authors.forename: Guillermo J
authors.initials: GJ
authors.lastname: Ruiz-Argüelles
authors.forename: Briceida
authors.initials: B
authors.lastname: López-Martínez
authors.forename: Patricia
authors.initials: P
authors.lastname: Valdés-Tapia
authors.forename: J David
authors.initials: JD
authors.lastname: Gómez-Rangel
authors.forename: Virginia
authors.initials: V
authors.lastname: Reyes-Núñez
authors.forename: Javier
authors.initials: J
authors.lastname: Garcés-Eisele
mesh_terms: D000293:Adolescent; D000328:Adult; D001791:Blood Platelet Disorders / Q000235:genetics; D019731:Carbon-Nitrogen Ligases / Q000235:genetics; D002648:Child; D005165:Factor V / Q000235:genetics; D005260:Female; D006801:Humans; D007198:Indians, North American / Q000235:genetics*; D008297:Male; D008800:Mexico; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011446:Prospective Studies; D011516:Prothrombin / Q000235:genetics; D019851:Thrombophilia / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D019731:Carbon-Nitrogen Ligases; C021557:5,10-methenyltetrahydrofolate synthetase