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 CfiT 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. Am.

Sticky platelet syndrome in patients with unexplained venous thrombosis

“…Another important finding of the present study is that among the patients with a confirmed diagnosis of SPS (n=6), SPS was the sole thrombotic abnormality in only 1 patient (17% [3.5% of the entire study cohort]); in the other 5 patients SPS coexisted with other well known hereditary coagulation defects, which is similar to previous studies that reported that 83% [14] and 33% [15] of patients with SPS presented with additional congenital prothrombotic conditions.…”

“…Another study that included 159 patients with unexplained venous/ arterial thrombosis reported that the prevalence of SPS among those with retinal and deep vein thrombosis was 50% and 14%, respectively [2]. A study from Mexico that included 46 consecutive patients with unexplained thrombosis reported that 48% of the study cohort had SPS [14]. If we consider only a confirmed diagnosis of SPS, 40% (2/5) and 17% (4/23) of the present study’s patients that presented with RVT and DVT/PE had SPS, respectively; these results are in agreement with those of the studies mentioned above.…”

Hereditary thrombophilia in ethnic omani patients

“…It probably reflects the pattern of gene flow, of the lack of it, in this population. Several studies in the recent literature have shown that in up to 90% of patients with a suspected thrombophilia, a thrombosis-prone condition, either inherited, or acquired or both has been identified, especially in large comprehensive studies [16,17]. Unfortunately, in the present circumstance a more comprehensive study was not possible for several logistical reasons.…”

Leiden V Factor and Spastic Cerebral Palsy in Mexican Children

“…In Mexico, there are two studies: one mentioning high prevalence (Ruiz-Argü elles et al, 2005) and the other, the opposite (Majluf-Cruz et al, 2008).…”