AlSaleh Khalid A, Al-Numair Nouf, AlSuliman Ayman, Zolaly Mohammed, Albanyan Abdul Majeed, AlOtaishan Nouf, Abudouleh Esra, Bayoumy Nervana, Tarawah Ahmad, AlZahrani Faisal, AlAllaf Faisal, AlMomen Abdul Kareem, Sajid Raihan, Owaidah Tarek M
Department of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Department of Genetics, King Faisal Specialist Hospital and Research Centre, and College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
TH Open. 2020 Dec 23;4(4):e457-e462. doi: 10.1055/s-0040-1721500. eCollection 2020 Oct.
Inherited bleeding disorders vary in prevalence due to genetic disparity and ethnicity. Little is known about the prevalence of coagulation factor deficiency and bleeding disorders in middle-eastern population. Young Saudi adults with at least one positive bleeding symptom reported in semi-structured validated condensed MCMDM-1vWD questionnaire were tested for complete blood count, routine and special coagulation tests, serum ferritin level, and capillary zone electrophoresis. After initial testing, those with prolonged prothrombin time (PT) or activated prothrombin time (APTT) had further testing to evaluate coagulation factors level. Platelet function was tested through platelet function analyzer (PFA)-100, and multiplate aggregometer (MEA) on patients suspected of having platelet disorders. Six-hundred-forty patients (male = 347, 54.2%) were included. A possible platelet function defect was diagnosed in three patients with one matching Glanzmann's thrombasthenia trait pattern, and one that of Bernard-Soulier trait pattern. One patient was diagnosed with von Willebrand disease. Deficiencies in coagulation factor levels were revealed as F-VIII in 14 (7.4%), F-IX in 15 (7.6%), F-II in two (3.3%), F-V in 17 (26.1%), FVII in two (3.1%), and F-X in one (1.8%) of study subjects; low vWF activity (<50%) was found in 14 (8%). Abnormal values were found for various laboratory tests with prolongation of platelet function analyzer-epinephrine (PFA-EPI) in 11%, PFA-ADP or arachidonic acid in 15.2%, PT in 35.9%, and APTT in 63.7%. Five-hundred-seventy-six patients (90%) had normal results in the coagulation factor assays and were categorized as patients with bleeding of unknown cause (BUC). A diagnosis of a bleeding disorder was more frequently made in men than in women (38 vs. 26). Iron deficiency anemia was found in 18 (25%) females positively associated with F-IX deficiency ( -value 0.000). Male gender (73.3%, = 0.007) was independently associated with the diagnosis of coagulation factor deficiency. The current study reports a higher prevalence of coagulation factors deficiency in Saudi population than reported in the western population.
由于基因差异和种族不同，遗传性出血性疾病的患病率有所差异。关于中东人群中凝血因子缺乏症和出血性疾病的患病率，人们了解甚少。
在经过半结构化验证的简化MCMDM - 1vWD问卷中报告至少有一项阳性出血症状的年轻沙特成年人，接受了全血细胞计数、常规和特殊凝血检查、血清铁蛋白水平以及毛细管区带电泳检测。初步检测后，凝血酶原时间（PT）或活化部分凝血活酶时间（APTT）延长的患者进一步接受检测以评估凝血因子水平。对于疑似血小板疾病的患者，通过血小板功能分析仪（PFA）-100和多电极聚集仪（MEA）检测血小板功能。
共纳入640例患者（男性347例，占54.2%）。3例患者被诊断可能存在血小板功能缺陷，其中1例符合Glanzmann血小板无力症特征模式，1例符合Bernard - Soulier特征模式。1例患者被诊断为血管性血友病。研究对象中，凝血因子水平缺乏情况如下：F - VIII缺乏14例（7.4%），F - IX缺乏15例（7.6%），F - II缺乏2例（3.3%），F - V缺乏17例（26.1%），FVII缺乏2例（3.1%），F - X缺乏1例（1.8%）；14例（8%）患者血管性血友病因子（vWF）活性低（<50%）。各种实验室检查出现异常值，其中血小板功能分析仪 - 肾上腺素（PFA - EPI）延长的占11%，PFA - ADP或花生四烯酸延长的占15.2%，PT延长的占35.9%，APTT延长的占63.7%。576例患者（90%）凝血因子检测结果正常，被归类为不明原因出血（BUC）患者。男性比女性更常被诊断为出血性疾病（38例对26例）。18例（25%）女性存在缺铁性贫血，与F - IX缺乏呈正相关（P值0.000）。男性（73.3%，P = 0.007）与凝血因子缺乏症的诊断独立相关。
本研究报告沙特人群中凝血因子缺乏症的患病率高于西方人群。
