Yenson Paul R, Yoshida Eric M, Li Charles H, Chung Henry V, Tsang Peter Wk
Division of Hematology, Department of Medicine, University of British Columbia, Vancouver, Canada.
Can J Gastroenterol. 2008 Jan;22(1):37-40. doi: 10.1155/2008/245096.
Elevated serum ferritin is a common clinical finding. The etiology of hyperferritinemia in the Asia-Pacific population is less clear due to a low prevalence of known HFE mutations such as C282Y and H63D, as well as an increased prevalence of viral hepatitis and hereditary anemia. A retrospective case review of 80 patients of Asian ethnicity referred to three subspecialists in tertiary care teaching hospitals between January 1997 and March 2005 for assessment of hyperferritinemia was performed.
Only four patients (5%) had iron overload on liver biopsy or quantitative phlebotomy. Forty-nine patients (61%) had secondary causes for their hyperferritinemia, of which 26 had liver disease; 16 of those patients also had viral hepatitis. Thirteen patients fulfilled criteria for the insulin resistance syndrome. Other causes included hematological disorders (n=10), malignancy (n=2) and inflammatory arthritis (n=2). Twenty-seven cases (34%) of unexplained hyperferritinemia were found. Of a total of 22 patients who underwent liver biopsy, significant iron deposition was found in one patient. Fifteen patients underwent C282Y and H63D genotyping, with two cases of H63D heterozygosity. Fourteen patients had first-degree relatives with hyperferritinemia. Three families were identified with more than two members affected, which is suggestive of a possible hereditary hyperferritinemia syndrome.
Secondary causes of elevated ferritin in the Asian population, particularly liver disease, are common, but primary iron overload syndromes appear to be rare. In a significant proportion of patients, the etiology remains unexplained. The genetic basis for hyperferritinemia in Asians is poorly defined and requires further study.
血清铁蛋白升高是常见的临床发现。由于已知的HFE突变（如C282Y和H63D）患病率较低，以及病毒性肝炎和遗传性贫血患病率增加，亚太地区人群高铁蛋白血症的病因尚不清楚。对1997年1月至2005年3月期间转诊至三级医疗教学医院的三位亚专科医生处评估高铁蛋白血症的80例亚洲患者进行了回顾性病例分析。
仅4例患者（5%）经肝活检或定量放血显示有铁过载。49例患者（61%）的高铁蛋白血症有继发性病因，其中26例患有肝脏疾病；这些患者中有16例还患有病毒性肝炎。13例患者符合胰岛素抵抗综合征标准。其他病因包括血液系统疾病（n = 10）、恶性肿瘤（n = 2）和炎性关节炎（n = 2）。发现27例（34%）不明原因的高铁蛋白血症。在总共22例行肝活检的患者中，仅1例发现有明显的铁沉积。15例患者进行了C282Y和H63D基因分型，其中2例为H63D杂合子。14例患者有高铁蛋白血症的一级亲属。确定有3个家族中有2名以上成员患病，提示可能存在遗传性高铁蛋白血症综合征。
亚洲人群中铁蛋白升高的继发性病因，尤其是肝脏疾病很常见，但原发性铁过载综合征似乎很少见。相当一部分患者的病因仍不明。亚洲人高铁蛋白血症的遗传基础尚不明确，需要进一步研究。
