Sandbox: sadaf

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				Para−clinical findings
										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					Appearance	Fever	Bleeding	BP	Splenomegaly	Jaundice	Other	Plt	HB	WBC	PBS	Bone marrow exam	PT	PTT	UA
Hematologic disorders	Myelodysplastic syndrome^[1]	Bone marrow infiltration Ineffective hematopoiesis	+	+	−	±	+	Elderly	Exposure to Chemotherapy Radiation therapy Tobacco smoke	Petechiae Purpura Diffuse erythematous rash	+	+	Nl	+	+	Shortness of breath Fatigue Pallor	↓	↓	↓	Ovalomacrocytosis Basophilic stippling Howell-Jolly body Dysplastic neutrophils	Impaired myeloid maturation Dyserythropoiesis Dysgranulopoiesis Dysmegakaryocytopoiesis Hypercellular bone marrow Fibrosis	Nl	Nl	Nl	Bone marrow examination + clinical manifestation	Might transformed to acute leukemia
	Malignancies such as:^[2]^[3] Acute leukemia Chronic leukemia Multiple myeloma Metastatic cancer	Bone marrow infiltration Ineffective hematopoiesis Immune mediated	+	+	+	±	±	Any, more in adults	Exposure to chemicals Radiation Pre-existent blood disorders	Petechiae	+	+	Nl	+	−	Weakness	↓	↓	↓	Pancytopenia	Blast cells	↑	↑	Hemoglobinuria	Bone marrow examination	Tumor lysis syndrome Infection CNS involvement DIC
	Myelofibrosis^[4]	Bone marrow infiltration	+	+	−	+	+	Average 60 years old	Exposure to chemicals Radiation Pre-existent blood disorders	Pallor Major weight loss	+	+	Nl	+	-	Weakness Fatigue Shortness of breath Headache	↓	↓	↓	Pancytopenia	Pancytopenia Hypercellular bone marrow Fibrosis	↑	↑	Hemoglobinuria	Bone marrow examination	Arrhythmia Infection Seizure May progress to malignancy
	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)	Exposure to radiation, drugs and chemicals, pregnancy, PNH and viral or autoimmune causes	Pallor	−	+	Nl	−	−	Shortness of breath Fatigue Pallor	↓	↓	↓	Large RBCs Low platelets and granulocytes	Hypocellular bone marrow replacement of bone marrow by fat	↑	↑	Nl	Bone marrow examination + laboratory findings	Fanconi Anemia Dyskeratosis congenita Schwachman-Diamond syndrome Preleukemia
	Paroxysmal nocturnal hemoglobinuria^[7]	Deficiency of complement regulatory proteins Mutations	+	+	−	−	+	Any age (usually younger adults)	Sudden nocturnal hemoglobinuria with partial clearing during the day	Normal	−	−	Nl	−	−	Thrombosis Smooth muscle dystonia	↓/Nl	↓	↓/Nl	Pancytopenia	Cellular marrow Erythroid hyperplasia dyserythropoiesis Hypocellular marrow in certain stages of the disease	Nl	Nl	Hemoglobinuria	Flow cytometry	Chronic renal failure Pulmonary hypertension Aplastic anemia
	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
	Felty syndrome
	Wiskott Aldrich syndrome					+
	GATA2 deficiency					+
	Hemophagocytic lymphohistiocytosis					+
GI disorders	Portal hypertension/cirrhosis	Splenomegally
GI disorders	Storage diseases (eg, Gaucher)	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	Bone marrow infiltration
	Viral infection such as HIV, hepatitis, Epstein-Barr virus	Marrow suppression Splenomegaly		+	+
Nutritional	Megaloblastic anemia	Ineffective hematopoiesis		+
	Excessive alcohol	Ineffective hematopoiesis
	Other nutritional deficiency such as copper deficiency, zinc toxicity	Ineffective hematopoiesis
	Malnutrition	Ineffective hematopoiesis
Medications	Medications such as: Cytotoxic drugs Idiosyncratic reactions to medications	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

↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.

[NatelsonPyatt2013-1] 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.

[OshimaYuji2013-2] 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.

[pmid24088751-3] 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.

[BaePark2013-4] 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.

[ZhangBenedetti2015-5] 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.

[DolbergLevy2014-6] 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.

[BoyerGrardel2015-7] 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.

[HossainPaidas2013-8] 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.

[PaivaCalado2014-9] 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.

[GokceTuncer2012-10] 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.

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Sandbox: sadaf

Differentiating Pancytopenia from Other Diseases

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