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Differentiating Pancytopenia from Other Diseases

  • There are no other mimickers of pancytopenia, as the diagnosis can be unequivocally established by laboratory testing (complete blood count).
Category Condition Etiology Mechanism Congenital Acquried Clinical manifestations Para−clinical findings Gold standard Associated findings
Demography History Symptoms Signs
Lab Findings
Appearance Fever Bleeding BP Splenomegaly Jaundice Other CBC PBS Bone marrow exam PT PTT UA
Bone marrow infiltration Bone marrow failure Destruction/

sequestration/ redistribution

Plt HB WBC
Hematologic disorders Myelodysplastic syndrome[1] + + − ± + Elderly Exposure to + + Nl + + ↓ ↓ ↓ Nl Nl Nl Bone marrow examination + clinical manifestation
Malignancies such as:[2][3] + + + ± ± Any, more in adults
  • Exposure to chemicals
  • Radiation
  • Pre-existent blood disorders
 + + Nl + − ↓ ↓ ↓
  • Blast cells
 ↑ ↑ Bone marrow examination
Myelofibrosis[4]
  • Bone marrow infiltration
 + + − + + Average 60 years old
  • Exposure to chemicals
  • Radiation
  • Pre-existent blood disorders
 + + Nl + - ↓ ↓ ↓ ↑ ↑ Bone marrow examination
Fanconi anemia[5]
Condition Etiology Bone marrow infiltration Bone marrow failure Destruction/

sequestration/ redistribution

Congenital Acquried Demography History Appearance Fever Bleeding BP Splenomegaly Jaundice Other signs Plt HB WBC PBS Bone marrow exam PT PTT UA Gold standard Associated findings
Aplastic anemia[6]
  • Unknown
 − + − ± ± Biphasic (the young and the elderly) − + Nl − − ↓ ↓ ↓ ↑ ↑ Nl Bone marrow examination +

laboratory findings

Paroxysmal nocturnal hemoglobinuria[7]
  • Mutations
 + + − − + Any age

(usually younger adults)

  • Normal
 − − Nl − − ↓/Nl ↓ ↓/Nl
  • Hypocellular marrow in certain stages of the disease
 Nl Nl Flow cytometry
Disseminated intravascular coagulation[8] Consumption
Dyskeratosis congenital/telomere biology disorders[9]
Shwachman-Diamond syndrome[10] +
Immunology/

Rheumatology

Condition Etiology Bone marrow infiltration Bone marrow failure Destruction/

sequestration/ redistribution

Congenital Acquried Demography History Appearance Fever Bleeding BP Splenomegaly Jaundice Other signs Plt HB WBC PBS Bone marrow exam PT PTT UA Gold standard Associated findings
SLE[11]
Felty syndrome[12]
Wiskott Aldrich syndrome[13] +
GATA2 deficiency[14] +
Hemophagocytic lymphohistiocytosis[15] +
GI disorders Portal hypertension/cirrhosis[16][17]
  • Splenomegally
Storage diseases (eg, Gaucher)[18]
  • Splenomegaly
  • Bone marrow infiltration
 + +
Infections Condition Etiology Bone marrow infiltration Bone marrow failure Destruction/

sequestration/ redistribution

Congenital Acquried Demography History Appearance Fever Bleeding BP Splenomegaly Jaundice Other signs Plt HB WBC PBS Bone marrow exam PT PTT UA Gold standard Associated findings
Sepsis[19]
  • Bone marrow infiltration
Viral infection such as HIV, hepatitis, Epstein-Barr virus[20]
  • Marrow suppression
  • Splenomegaly
 + +
Nutritional Megaloblastic anemia[21]
  • Ineffective hematopoiesis
 +
Excessive alcohol[22]
  • Ineffective hematopoiesis
Other nutritional deficiency such as copper deficiency, zinc toxicity[23][24]
  • Ineffective hematopoiesis
Malnutrition[25]
  • Ineffective hematopoiesis
Medications Medications such as:[26][27]
  • Immune destruction
 +
Category Condition Etiology Bone marrow infiltration Bone marrow failure Destruction/

sequestration/ redistribution

Congenital Acquried Demography History Appearance Fever Bleeding BP Splenomegaly Jaundice Other signs Plt HB WBC PBS Bone marrow exam PT PTT UA Gold standard Associated findings
  1. ↑ Natelson, Ethan A.; Pyatt, David (2013). "Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog". Advances in Hematology. 2013: 1–11. doi:10.1155/2013/309637. ISSN 1687-9104.
  2. ↑ Oshima, Yasuo; Yuji, Koichiro; Tanimoto, Tetsuya; Hinomura, Yasushi; Tojo, Arinobu (2013). "Association between Acute Myelogenous Leukemia and Thrombopoietin Receptor Agonists in Patients with Immune Thrombocytopenia". Internal Medicine. 52 (19): 2193–2201. doi:10.2169/internalmedicine.52.0324. ISSN 0918-2918.
  3. ↑ Oshima Y, Yuji K, Tanimoto T, Hinomura Y, Tojo A (2013). "Association between acute myelogenous leukemia and thrombopoietin receptor agonists in patients with immune thrombocytopenia". Intern. Med. 52 (19): 2193–201. PMID 24088751.
  4. ↑ Bae, E.; Park, C.-J.; Cho, Y.-U.; Seo, E.-J.; Chi, H.-S.; Jang, S.; Lee, K.-H.; Lee, J.-H.; Lee, J.-H.; Suh, J.-J.; Im, H.-J. (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". International Journal of Laboratory Hematology. 35 (6): 629–636. doi:10.1111/ijlh.12101. ISSN 1751-5521.
  5. ↑ Zhang, Qing-Shuo; Benedetti, Eric; Deater, Matthew; Schubert, Kathryn; Major, Angela; Pelz, Carl; Impey, Soren; Marquez-Loza, Laura; Rathbun, R. Keaney; Kato, Shigeaki; Bagby, Grover C.; Grompe, Markus (2015). "Oxymetholone Therapy of Fanconi Anemia Suppresses Osteopontin Transcription and Induces Hematopoietic Stem Cell Cycling". Stem Cell Reports. 4 (1): 90–102. doi:10.1016/j.stemcr.2014.10.014. ISSN 2213-6711.
  6. ↑ Dolberg, Osnat Jarchowsky; Levy, Yair (2014). "Idiopathic aplastic anemia: Diagnosis and classification". Autoimmunity Reviews. 13 (4–5): 569–573. doi:10.1016/j.autrev.2014.01.014. ISSN 1568-9972.
  7. ↑ Boyer, Thomas; Grardel, Nathalie; Copin, Marie-Christine; Roumier, Christophe; Touzart, Aurore; Buchdahl, Anne-Laure; Corm, Sélim; de Latour, Régis Peffault; Preudhomme, Claude; Terriou, Louis (2015). "Paroxysmal nocturnal hemoglobinuria (PNH) and T cell large granular lymphocyte (LGL) leukemia—an unusual association: another cause of cytopenia in PNH". Annals of Hematology. 94 (10): 1759–1760. doi:10.1007/s00277-015-2439-3. ISSN 0939-5555.
  8. ↑ Hossain, Nazli; Paidas, Michael J. (2013). "Disseminated intravascular coagulation". Seminars in Perinatology. 37 (4): 257–266. doi:10.1053/j.semperi.2013.04.008. ISSN 0146-0005.
  9. ↑ Paiva, Raquel M.A.; Calado, Rodrigo T. (2014). "Telomere Dysfunction and Hematologic Disorders". 125: 133–157. doi:10.1016/B978-0-12-397898-1.00006-2. ISSN 1877-1173.
  10. ↑ Gokce, Muge; Tuncer, Murat; Cetin, Mualla; Gumruk, Fatma (2012). "Molecular Diagnosis of Shwachman-Diamond Syndrome Presenting with Pancytopenia at an Early Age: The First Report from Turkey". Indian Journal of Hematology and Blood Transfusion. 29 (3): 161–163. doi:10.1007/s12288-012-0163-x. ISSN 0971-4502.
  11. ↑ Newman, Kam; Owlia, Mohammad Bagher; El-Hemaidi, Ihab; Akhtari, Mojtaba (2013). "Management of immune cytopenias in patients with systemic lupus erythematosus — Old and new". Autoimmunity Reviews. 12 (7): 784–791. doi:10.1016/j.autrev.2013.02.001. ISSN 1568-9972.
  12. ↑ Liatsos, George D.; Tsironi, Ioanna; Vassilopoulos, Dimitrios; Dourakis, Spyridon (2018). "Severe pancytopenia and splenomegaly associated with felty's syndrome, both fully responsive solely to corticosteroids". Clinical Case Reports. 6 (3): 509–512. doi:10.1002/ccr3.1396. ISSN 2050-0904.
  13. ↑ Brochstein JA, Gillio AP, Ruggiero M, Kernan NA, Emanuel D, Laver J, Small T, O'Reilly RJ (December 1991). "Marrow transplantation from human leukocyte antigen-identical or haploidentical donors for correction of Wiskott-Aldrich syndrome". J. Pediatr. 119 (6): 907–12. PMID 1960605.
  14. ↑ Sanyi, Allen; Jaye, David L.; Rosand, Cecilia B.; Box, Amanda; Shanmuganathan, Chandrakasan; Waller, Edmund K. (2018). "Diagnosis of GATA2 haplo-insufficiency in a young woman prompted by pancytopenia with deficiencies of B-cell and dendritic cell development". Biomarker Research. 6 (1). doi:10.1186/s40364-018-0127-x. ISSN 2050-7771.
  15. ↑ Larroche, Claire (2012). "Hemophagocytic lymphohistiocytosis in adults: Diagnosis and treatment". Joint Bone Spine. 79 (4): 356–361. doi:10.1016/j.jbspin.2011.10.015. ISSN 1297-319X.
  16. ↑ Sarin, Shiv K.; Khanna, Rajeev (2014). "Non-cirrhotic Portal Hypertension". Clinics in Liver Disease. 18 (2): 451–476. doi:10.1016/j.cld.2014.01.009. ISSN 1089-3261.
  17. ↑ Aksoy, Evrim K.; Koklu, Seyfettin (2015). "Albendazole-Induced Cirrhosis Decompensation and Pancytopenia". Annals of Pharmacotherapy. 49 (8): 945–946. doi:10.1177/1060028015590178. ISSN 1060-0280.
  18. ↑ Düzenli Kar, Yeter; Özdemir, Zeynep C.; Kiral, Eylem; Kiliç Yildirim, Gonca; Dinleyici, Ener Ç.; Bör, Özcan (2018). "Hemophagocytic Lymphohystiocytosis Associated With Type Ia Glycogen Storage Disease". Journal of Pediatric Hematology/Oncology: 1. doi:10.1097/MPH.0000000000001208. ISSN 1077-4114.
  19. ↑ Tendas, Andrea; Niscola, Pasquale; Dentamaro, Teresa; Cupelli, Luca; Di Matteo, Gigliola; Finocchi, Andrea; Siniscalchi, Agostina; Fratoni, Stefano; Scimò, Teresa; Scaramucci, Laura; Giovannini, Marco; Ales, Micaela; Pio Perrotti, Alessio; de Fabritiis, Paolo (2010). "Pancytopenia and severe sepsis in an adult case of congenital X-linked agammaglobulinemia (XLA)". Annals of Hematology. 89 (9): 949–951. doi:10.1007/s00277-009-0891-7. ISSN 0939-5555.
  20. ↑ Santiago-Rodríguez, Eduardo; Mayor, Angel; Fernández-Santos, Diana; Hunter-Mellado, Robert (2015). "Profile of HIV-Infected Hispanics with Pancytopenia". International Journal of Environmental Research and Public Health. 13 (1): 38. doi:10.3390/ijerph13010038. ISSN 1660-4601.
  21. ↑ Khattak MB, Ismail M, Marwat ZI, Khan F (2012). "Frequency and characterisation of pancytopenia in megaloblastic anaemia". J Ayub Med Coll Abbottabad. 24 (3–4): 53–5. PMID 24669609.
  22. ↑ Weston CF, Hall MJ (February 1987). "Pancytopenia and folate deficiency in alcoholics". Postgrad Med J. 63 (736): 117–20. PMC 2428237. PMID 3671238.
  23. ↑ Hudspeth M, Turner A, Miller N, Lazarchick J (May 2014). "Pancytopenia after allogeneic bone marrow transplant due to copper deficiency". J. Pediatr. Hematol. Oncol. 36 (4): 316–8. doi:10.1097/MPH.0b013e318290c644. PMID 23652881.
  24. ↑ Robinson SD, Cooper B, Leday TV (October 2013). "Copper deficiency (hypocupremia) and pancytopenia late after gastric bypass surgery". Proc (Bayl Univ Med Cent). 26 (4): 382–6. PMC 3777101. PMID 24082414.
  25. ↑ Dragusin, Roxana C.; Murray, Jean-Michel; Mallet, Dominique; Gonzalez, Hugo; Markou, Georges A. (2015). "Pancytopenia related to malnutrition during pregnancy". International Journal of Gynecology & Obstetrics. 130 (1): 86–87. doi:10.1016/j.ijgo.2015.02.020. ISSN 0020-7292.
  26. ↑ Kelm DJ, Torres KM, Sohail MR (August 2012). "46-year-old man with fevers, chills, and pancytopenia". Mayo Clin. Proc. 87 (8): 799–802. doi:10.1016/j.mayocp.2012.03.012. PMC 3498402. PMID 22862866.
  27. ↑ Davis SA, Krowchuk DP, Feldman SR (May 2014). "Prescriptions for a toxic combination: use of methotrexate plus trimethoprim-sulfamethoxazole in the United States". South. Med. J. 107 (5): 292–3. doi:10.1097/SMJ.0000000000000098. PMID 24937727.
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