Autoimmune Myelofibrosis: Clinical Features, Course, and Outcome

Abstract

Background: Autoimmune myelofibrosis (AIMF) is an underrecognized cause of nonmalignant bone marrow fibrosis which occurs in the presence or absence of a defined systemic autoimmune disease. Patients with AIMF present with cytopenias and autoantibodies, and have a distinctive nonclonal myelofibrosis on bone marrow examination. AIMF is distinguished from primary myelofibrosis by the absence of splenomegaly, eosinophilia, or basophilia, and the absence of abnormal myeloid, erythroid, or megakaryocytic morphology. Objectives: The objective of the study was to describe the clinical presentation and outcomes of patients with AIMF. Methods: We conducted a single-institution, retrospective chart review of patients diagnosed with AIMF to investigate clinical presentations, therapies, and outcomes. Results: Twelve patients with AIMF were identified with a mean follow-up of 5.8 years. All patients had detectable autoantibodies and the majority had concomitant autoimmune disorders. Four patients experienced a complete response of cytopenias and 3 patients experienced a partial response (PR) of cytopenias with immunosuppressive therapy. One patient achieved a PR following splenectomy. No patients were diagnosed with myeloproliferative neoplasms during the follow-up period. Conclusions: AIMF contributes to cytopenias in the subset of patients with various autoimmune disorders. The majority of patients with AIMF experience an improvement in cytopenias with immunosuppressive therapy.

Primary autoimmune myelofibrosis: A case report in a child

“…No pediatric cases of primary AIMF have been reported; however, several adult cases have been published [6,7]. In 2003, primary AIMF in adults was defined by a set of diagnostic criteria: and (8) absence of a disorder known to cause myelofibrosis [8,9].…”

Autoimmune Myelofibrosis in Sjögren’s Syndrome: Report of a Case

“…Although the distinction between AMF and PMF is important, there is often an overlap in pathological features that results in not all diagnostic criteria being met [ 2 , 5 , 11 , 12 ]. Another factor that makes diagnosis difficult is that ANAs and rheumatoid factors are not serologically specific to AMF [ 11 ]. In particular, cases of thrombocytopenia alone, as in the present report, are difficult to differentiate from ITP, and some cases have been reported that were initially misdiagnosed as ITP [ 13 ].…”

Autoimmune-Associated Hemophagocytosis and Myelofibrosis in a Newly Diagnosed Lupus Patient: Case Report and Literature Review

“…Autoimmune myelofibrosis (AIMF), introduced by Paquette et al in 1994, is a distinct clinicopathologic condition that occasionally occurs with autoimmune disorders such as SLE and RA [27]. Nonmalignant marrow fibrosis which occurs in the presence of a defined systemic autoimmune disease such as SLE or RA is termed secondary AIMF [28]. Primary AIMF, on the contrary, is a clinical condition with similar presentation to secondary AIMF but occurs in patients without a defined autoimmune disease [29].…”

“…It is imperative to differentiate AIMF from primary myelofibrosis (PMF), a clonal myeloproliferative neoplasm, because their clinical course, prognosis, and treatment vary markedly [30]. Bone marrow findings in AIMF include the following: variable bone marrow cellularity with reticulin and/or collagen fibrosis; absence of megakaryocytic, myeloid, or erythroid dysplasia; presence of lymphoid aggregates; and lack of osteosclerosis [28, 30, 31]. In contrast, PMF is characterized by bone marrow findings of moderate-to-severe reticulin fibrosis and the presence of megakaryocytic proliferation and atypia [32].…”

“…In contrast, PMF is characterized by bone marrow findings of moderate-to-severe reticulin fibrosis and the presence of megakaryocytic proliferation and atypia [32]. Cytopenias, leukoerythroblastosis, and presence of teardrop poikilocytosis may be seen in the peripheral blood of both AIMF and PMF [28, 33]. However, eosinophilia and basophilia are not features of AIMF [28, 29, 34].…”