Challenges of diagnosing and managing pre-fibrotic myelofibrosis: A case-based and practical approach

• Published in: Best practice & research. Clinical haematology Vol. 35; no. 2; p. 101378
• Main Authors: Rampotas, Alexandros, Hargreaves, Rupen, McLornan, Donal P.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ltd 01.06.2022
• Subjects: Bone Marrow; Disease Progression; Humans; Primary Myelofibrosis - diagnosis; Primary Myelofibrosis - genetics; Primary Myelofibrosis - therapy; Prognosis; Thrombocythemia, Essential - diagnosis; Thrombocythemia, Essential - genetics; Thrombocythemia, Essential - therapy
• ISSN: 1521-6926; 1532-1924
• DOI: 10.1016/j.beha.2022.101378

Pre-Fibrotic Myelofibrosis is a frequently under-recognised entity that has distinct features separate to those of both Essential Thrombocythaemia and overt Primary Myelofibrosis. Misdiagnosis is relatively common due to subtle differences in bone marrow trephine morphology and multidisciplinary approaches are required. The clinical phenotype and disease course is heterogeneous and hence management approaches tend to vary widely. Although patients may initially be asymptomatic, disease-related complications can include troublesome symptom burdens, increased incidence of both arterial and venous thromboses, haemorrhage, anaemia and an inherent risk of disease evolution to either overt myelofibrosis or blastic phase disease. Specific prognostic tools with high discriminatory power are lacking. Within this review we use case-based approaches to review the current literature, highlight challenges in both diagnostics and disease management and suggest contemporary approaches to improve patient outcomes.