Hereditary Thrombophilia in Korean Patients with Idiopathic Pulmonary Embolism

Abstract

PurposeHereditary thrombophilia (HT) is a major risk factor for idiopathic pulmonary embolism (iPE) and shows different prevalence among ethnic groups. The prevalence and clinical characteristics of HT in Korean patients with iPE were investigated.Materials and MethodsPatients with PE on computed tomography (CT) scan were recruited, and those with malignancy were excluded. Patients were divided into iPE and provoked PE (pPE) groups. The presence of HT in the iPE group was assessed by DNA sequencing of the corresponding gene in patients who had low levels of natural anticoagulants. The clinical characteristics of iPE with HT (iPE/HT+) were compared with those of iPE without HT (iPE/HT-) and pPE.ResultsOut of 161 patients, 84 patients had iPE and 77 patients had pPE. Among 54 patients in the iPE group whose coagulation profiles were tested, 28 patients were diagnosed with HT (51.9%; 28/54). Compared with the iPE/HT- and pPE groups, the iPE/HT+ group showed the highest proportion of male patients (71.4%; p<0.001); the youngest mean age (44±14 years; p<0.001); and the highest frequencies for history of venous thromboembolism (64.3%; p<0.001), concurrent deep vein thrombosis (75.0%; p=0.021), and adverse clinical outcomes (42.9%, p<0.001). Protein C deficiency was the most common HT. On molecular genetic tests, causative mutation was identified in 13 patients.ConclusionIn this study of Korean patients, about half of the patients with iPE had HT. Patients with iPE and HT were mostly young males with deep venous thrombosis (DVT), previous venous thromboembolism (VTE), and frequent adverse clinical outcomes. Therefore, Korean patients with iPE should be tested for HT.

Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population

“…Likewise, the 14.4% frequency in the present study was lower than the frequency of 24.1% in our previous study on selected patients with (idiopathic) pulmonary embolism. 36 The population frequencies of natural anticoagulant deficiency in Western ethnic populations have been described as 0.2-0.45% for PC deficiency, 0.03-1.3% for PS deficiency, and 0.02-0.25% for AT deficiency.…”

“…Likewise, the 14.4% frequency in the present study was lower than the frequency of 24.1% in our previous study on selected patients with (idiopathic) pulmonary embolism. 36 The population frequencies of natural anticoagulant deficiency in Western ethnic populations have been described as 0.2-0.45% for PC deficiency, 0.03-1.3% for PS deficiency, and 0.02-0.25% for AT deficiency. 9,[37][38][39][40][41][42] The differences in the methodological strategy used to screen for and confirm the deficiency (e.g., type/frequency of tests, family study, and cutoffs) could also have affected the figures.…”

Congenital thrombophilia in East-Asian venous thromboembolism population: a systematic review and meta-analysis

“…The included publications involved 6453 individuals from 7 countries or regions, comprising all cross-sectional studies published from 1994 to 2022. Eighteen studies were from China, 7 from Korea, 11 from Japan, 6 from Thailand, and 2 from Singapore ( Table 1 ) [ [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] , [24] , [25] , [26] , [27] , [28] , [29] , [30] , [31] , [32] , [33] , [34] , [35] , [36] , [37] , [38] , [39] , [40] , [41] , [42] , [43] , [44] , [45] , [46] , [47] , [48] , [49] , [50] , [51] , [52] , [53] , [54] , [55] , [56] , [57] ]. In a study from Singapore, 384 patients, including 262 Chinese, 71 Malay, 40 Indian, 5 Eurasian, and 6 others, were included [ 42 ].…”

Association between congenital thrombophilia and outcomes in pulmonary embolism patients

“…Only 1 small-scale study from South Korea investigated the prevalence and genetic background of thrombophilia in PE patients. 12 The influence of congenital thrombophilia on PE patients with or without risk factors, as well as the outcome of PE patients, was not determined. This current study aims to investigate the prevalence and distribution of 5 known subtypes of congenital thrombophilia in a large cohort of PE patients and assess the effects of congenital thrombophilia on the morbidity and outcome of PE.…”