Histological diagnosis of primary biliary cholangitis in one patient without cholestasis alterations: a case report that escaped guidelines

Matteo Biagi, Elisa Bernasconi, C. Cursaro, Enrico Ronconi, Filippo Zanni, Pamela Sighinolfi, Pietro Andreone
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Abstract

Primary biliary cholangitis (PBC) is an autoimmune cholangiopathy that affects mainly women and, if untreated, can evolve into biliary cirrhosis. Its prevalence varies worldwide, depending on race, and accounts for 22.27 cases/100,000 habitants in Europe. To establish the diagnosis of PBC according to the European Association for the Study of the Liver (EASL) guidelines, two criteria must be satisfied among alkaline phosphatase (ALP) alterations, autoantibody positivity, and histologic abnormalities. Early treatment is effective in prolonging survival. Current guidelines do not suggest hepatic biopsy in patients with autoantibody positivity without cholestasis alterations. However, many patients with these characteristics have been diagnosed with PBC disease only histologically, mainly patients with normal ALP and elevated gamma-glutamyl transferase (GGT), whose normalization has been used as a marker for the follow-up. In contrast, this is the case of a patient with autoantibody positivity and both ALP and GGT within the range, diagnosed for PBC by histology. The manuscript wants to propose the re-evaluation of the role of liver biopsy in PBC diagnosis and the need for a serological or histological biomarker in the follow-up of patients without cholestatic alterations.
无胆汁淤积改变的原发性胆汁性胆管炎组织学诊断:一份未纳入指南的病例报告
原发性胆汁性胆管炎(PBC)是一种自身免疫性胆管病变,主要影响女性,如不及时治疗,可演变为胆汁性肝硬化。世界各地的发病率因种族而异,欧洲的发病率为 22.27 例/100,000 人。根据欧洲肝脏研究协会(EASL)的指南,要确诊 PBC,必须满足两个标准,即碱性磷酸酶(ALP)改变、自身抗体阳性和组织学异常。早期治疗可有效延长生存期。目前的指南不建议对自身抗体阳性但无胆汁淤积改变的患者进行肝活检。然而,许多具有这些特征的患者仅从组织学角度被诊断为 PBC 疾病,主要是 ALP 正常和γ-谷氨酰转移酶(GGT)升高的患者,其正常化被用作随访的标志。相比之下,本例患者自身抗体阳性,ALP 和 GGT 均在正常范围内,但经组织学检查确诊为 PBC。该手稿希望建议重新评估肝活检在 PBC 诊断中的作用,以及在随访无胆汁淤积性改变的患者时使用血清学或组织学生物标志物的必要性。
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