Myelofibrosis differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2], Sujit Routray, M.D. [3]

Overview

Myelofibrosis must be differentiated from other diseases that cause diffuse bone sclerosis, splenomegaly, anemia, leukopenia, thrombocytopenia, leukocytosis, thrombocytosis, and extramedullary hematopoiesis such as sickle cell disease, hyperthyroidism, sclerosing bone dysplasia, osteoblastic metastases, Paget's disease, acute myelogenous leukemia (AML), chronic myelogenous leukemia (CML), polycythemia vera, myelodysplastic syndrome, chronic myelomonocytic leukemia, acute panmyelosis, acute megakaryoblastic leukemia, cirrhosis, infections, neoplastic and lipid storage disorders.[1][2][3][4][5][6][7]

Differentiating Myelofibrosis from other Diseases

Myelofibrosis must be differentiated from other diseases that cause diffuse bone sclerosis, anemia, leukopenia, thrombocytopenia, leukocytosis, or thrombocytosis. They are presented in the table below.[2][3][4][6][7]

Type of diseases Diseases
Hematological causes Sickle cell disease
Metabolic bone disorders Hyperthyroidism
Hypoparathyroidism
Renal osteodystrophy
Congenital Sclerosing bone dysplasia
Osteopetrosis
Pyknodysostosis
Malignancy Lymphoma: infiltration
Leukaemia: infiltration
Osteoblastic metastases
Other Paget disease
Fluorosis
Mastocytosis
Hepatitis C associated osteosclerosis (HCAO)

Myelofibrosis must also be differentiated from other diseases that cause splenomegaly and/or extramedullary hematopoiesis. They are presented in the table below.[1][5][6]

Type of diseases Diseases
Hematological causes Anemia

Neoplastic/proliferative/redistribution of hematopoesis

* = may cause massive splenomegaly

Hemodynamic Cirrhosis: portal hypertension
Congestive splenomegaly (Banti's syndrome)
Splenic vein obstruction
Portal vein obstruction
Right heart failure
Infection Viral

Bacterial

Fungal

Parasitic disease

Storage diseases/metabolic/infiltrative disorders Gaucher disease
Glycogen storage disease
Mucopolysaccharidoses
Niemann-Pick disease
Hemochromatosis
Amyloidosis
Porphyria
Sarcoidosis
Neoplastic Lymphoma (common)
Metastases (breast, lung, colon, ovary, melanoma)
Hemangioma
Lymphangioma
Angiosarcoma
Trauma Hematoma
Pseudocyst
Connective tissue disorders Systemic lupus erythematosus (SLE)
Rheumatoid arthritis

References

  1. 1.0 1.1 Splenomegaly. Dr Henry Knipe and A.Prof Frank Gaillard et al. Radiopaedia 2016. http://radiopaedia.org/Italic textarticles/splenomegaly. Accessed on March 11, 2016
  2. 2.0 2.1 Bae E, Park CJ, Cho YU, Seo EJ, Chi HS, Jang S, Lee KH, Lee JH, Lee JH, Suh JJ, Im HJ (December 2013). "Differential diagnosis of myelofibrosis based on WHO 2008 criteria: acute panmyelosis with myelofibrosis, acute megakaryoblastic leukemia with myelofibrosis, primary myelofibrosis and myelodysplastic syndrome with myelofibrosis". Int J Lab Hematol. 35 (6): 629–36. doi:10.1111/ijlh.12101. PMID 23693053.
  3. 3.0 3.1 Tefferi A (September 2014). "Primary myelofibrosis: 2014 update on diagnosis, risk-stratification, and management". Am. J. Hematol. 89 (9): 915–25. doi:10.1002/ajh.23703. PMID 25124313.
  4. 4.0 4.1 Tefferi A (February 2013). "Primary myelofibrosis: 2013 update on diagnosis, risk-stratification, and management". Am. J. Hematol. 88 (2): 141–50. doi:10.1002/ajh.23384. PMID 23349007.
  5. 5.0 5.1 Aumann K, Frey AV, May AM, Hauschke D, Kreutz C, Marx JP, Timmer J, Werner M, Pahl HL (November 2013). "[Differential diagnosis of myeloproliferative neoplasms. Quantitative NF-E2 immunohistochemistry for differentiating between essential thrombocythemia and primary myelofibrosis]". Pathologe (in German). 34 Suppl 2: 201–9. doi:10.1007/s00292-013-1824-8. PMID 24196613.
  6. 6.0 6.1 6.2 Differential diagnosis of myelofibrosis. Dr Henry Knipe and Dr Yuranga Weerakkody et al. Radiopaedia 2016. http://radiopaedia.org/articles/myelofibrosis. Accessed on March 10, 2016
  7. 7.0 7.1 Diffuse bony sclerosis: differential diagnosis. Dr Craig Hacking and Dr Yuranga Weerakkody et al. Radiopaedia 2016. http://radiopaedia.org/articles/diffuse-bony-sclerosis-differential-diagnosis. Accessed on March 10, 2016

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