Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Levy Library, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Eur J Haematol. 2023 Nov;111(5):706-714. doi: 10.1111/ejh.14064. Epub 2023 Jul 29.
Autoimmune myelofibrosis (AIMF) is a rare cause of bone marrow fibrosis (BMF) occurring in the presence or absence of a defined autoimmune disease (secondary or primary AIMF, sAIMF/pAIMF, respectively). Unlike primary myelofibrosis (PMF), AIMF responds well to immunosuppressive therapy with a benign clinical course. Diagnostic criteria for AIMF in opposition to PMF have been lacking, though recent work has helped better characterise molecular and pathological features of AIMF, improving diagnostic precision.
Using a modern clinical and pathophysiological understanding of AIMF, we apply scoping review methodology and rigorous case-criteria to retrospectively analyse the case literature. We examine its patient-population, describing patient-associated factors, presentation, bone marrow pathology, genetics, treatment and outcomes.
Fifty-five studies were identified, describing 139 AIMF patients. Patients were mostly young females (4:1 ratio female:male, median age 40.8 years) and typically presented with cytopenias. Splenomegaly was rare. sAIMF was more common than pAIMF (3:1 ratio), and most cases responded well to immunosuppressive therapy.
Our results strengthen the emerging picture of AIMF's patient population, natural history and response to treatment. Further work should continue to use reproducible diagnostic criteria, and explore AIMF's pathophysiology, response to different therapies, and sequelae over larger timescales, as well as differences between pAIMF, sAIMF and PMF.
自身免疫性骨髓纤维化（AIMF）是一种罕见的骨髓纤维化（BMF）病因，可发生于存在或不存在明确自身免疫性疾病的情况下（分别为继发性或原发性 AIMF，sAIMF/pAIMF）。与原发性骨髓纤维化（PMF）不同，AIMF 对免疫抑制治疗反应良好，具有良性临床病程。尽管最近的研究有助于更好地描述 AIMF 的分子和病理学特征，从而提高诊断精度，但针对 AIMF 的诊断标准与 PMF 仍存在差异。
我们使用对 AIMF 的现代临床和病理生理学理解，应用范围综述方法和严格的病例标准，对病例文献进行回顾性分析。我们检查了其患者人群，描述了与患者相关的因素、表现、骨髓病理学、遗传学、治疗和结局。
共确定了 55 项研究，描述了 139 例 AIMF 患者。患者主要为年轻女性（女性与男性的比例约为 4:1，中位年龄为 40.8 岁），通常表现为血细胞减少。脾肿大罕见。sAIMF 比 pAIMF 更常见（比例约为 3:1），且大多数病例对免疫抑制治疗反应良好。
我们的结果强化了 AIMF 的患者人群、自然病史和对治疗反应的新认识。进一步的工作应继续使用可重复的诊断标准，并探索 AIMF 的病理生理学、对不同治疗方法的反应以及更大时间范围内的后遗症，以及 pAIMF、sAIMF 和 PMF 之间的差异。
