a Department of Nutritional Sciences and Research Platform Active Ageing , University of Vienna , Vienna , Austria.
b School of Medical Science and Menzies Health Institute Queensland , Griffith University , Gold Coast , Australia.
Crit Rev Clin Lab Sci. 2018 Mar;55(2):129-139. doi: 10.1080/10408363.2018.1428526. Epub 2018 Feb 1.
Hyperbilirubinemia is a well-known condition in the clinical setting; however, the causes of elevated serum bilirubin are diverse, as are the clinical ramifications of this condition. For example, diagnoses of individuals vary depending on whether they exhibit an unconjugated or conjugated hyperbilirubinemia. Diagnoses can include conditions of disordered bilirubin metabolism (Gilbert's, Crigler-Najjar, Rotor, or Dubin-Johnson syndromes) or an acquired disease, including alcoholic/non-alcoholic fatty liver disease, hepatotropic hepatitis, cirrhosis, or hepato-biliary malignancy. Assessment of bilirubin concentrations is typically conducted as part of routine liver function testing. Mildly elevated total bilirubin with normal serum activities of liver transaminases, biliary damage markers, and red blood cell counts, however, may indicate the presence of Gilbert's syndrome (GS), a benign condition that is present in ∼5-10% of the population. In this case, mildly elevated unconjugated bilirubin in GS is strongly associated with "reduced" prevalence of chronic diseases, particularly cardiovascular diseases (CVD) and type 2 diabetes mellitus (and associated risk factors), as well as CVD-related and all-cause mortality. These reports challenge the dogma that bilirubin is simply a potentially neurotoxic by-product of heme catabolism and emphasize the importance of understanding its potential beneficial physiologic and detrimental pathophysiologic effects, in order to appropriately consider bilirubin test results within the clinical laboratory setting. With this information, we hope to improve the understanding of disorders of bilirubin metabolism, emphasize the diagnostic importance of these conditions, and outline the potential impact GS may have on resistance to disease.
高胆红素血症是临床实践中众所周知的病症；然而，血清胆红素升高的原因多种多样，这种病症的临床后果也多种多样。例如，个体的诊断取决于他们是否表现出未结合或结合高胆红素血症。诊断包括胆红素代谢紊乱的病症（吉尔伯特、克里格勒-纳贾尔、罗特或杜宾-约翰逊综合征）或获得性疾病，包括酒精性/非酒精性脂肪性肝病、肝毒性肝炎、肝硬化或肝胆恶性肿瘤。胆红素浓度的评估通常作为常规肝功能测试的一部分进行。然而，总胆红素轻度升高，血清肝转氨酶、胆汁淤积标志物和红细胞计数正常，可能表明存在吉尔伯特综合征（GS），这是一种良性病症，约占人口的 5-10%。在这种情况下，GS 中轻度升高的未结合胆红素与慢性疾病（特别是心血管疾病[CVD]和 2 型糖尿病[和相关危险因素]）以及 CVD 相关和全因死亡率的“降低”患病率强烈相关。这些报告挑战了胆红素仅仅是血红素代谢的潜在神经毒性副产物的观点，并强调了理解其潜在有益的生理和有害的病理生理作用的重要性，以便在临床实验室环境中恰当地考虑胆红素检测结果。有了这些信息，我们希望能提高对胆红素代谢紊乱的认识，强调这些病症的诊断重要性，并概述 GS 对疾病抵抗力可能产生的影响。
