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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	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: 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	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	Genetic defect Bone marrow failure	−	+	−	+	−	Rare autosomal recessive genetic disorder, higher in Ashkenazi Jews and Afrikaners in South Africa	Family history of Fanconi anemia	Short stature Petechiae and bruises Pallor Skin discoloration	−	+	Nl	−	−	Skeletal defects Deafness VSD Kidney abnormalities	↓	↓	↓	Pancytopenia	Pancytopenia Hypercellular bone marrow	Nl	Nl	Nl	Genetic studies	Progress to acute myelogenous leukemia Solid tumors Developmental abnormalities
	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	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	↓	↓	↓	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	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	Consumption	−	−	+	−	+	Any	Infection Trauma Obstetrics complications Cancer Shock	Acutely ill	+	+	↓	−	+	Shortness of breath Fatigue Chest pain	↓/Nl	↓	↓/Nl	Pancytopenia	NA	↑	↑	Hemoglobinuria	Lab findings	High mortality rate
	Dyskeratosis congenital/telomere biology disorders	Aberrant telomere biology Germline mutations	−	+	−	+	−	Rare genetic disorder	Family history	Nail dysplasia Abnormal skin pigmentation	−	+	Nl	−	+	Oral leukoplakia Shortness of breath Fatigue	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	Nl	Nl	Nl	Clinical findings + genetic studies	Progress to malignancy Pulmonary fibrosis Liver disease
	Shwachman-Diamond syndrome	Germline mutations Bone marrow failure	−	+	−	+	−	Rare genetic disorder	Family history	Skeletal abnormalities Short stature Metaphyseal dysostosis	−	+	Nl	−	+	Steatorrhea Growth retardation	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	Nl	Nl	Nl	Clinical findings + genetic studies	Exocrine pancreatic insufficiency Growth retardation Increased frequency of infections
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	Immune mediated bone marrow failure	−	+	+	+	+	More in young females	Family history	Skin rash	+	+	Nl to ↓	+	+	Weight loss Mouth ulcers Chest pain Lymphadenopathy	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	↑	↑	Hemoglobinuria Proteinuria	Clinical findings + laboratory studies	Multi organ damage Poor prognosis
	Felty syndrome	Immune mediated bone marrow failure	−	+	−	−	+	Rare autoimmune disease, more in females 50-70 years old	History of rheumatoid arthritis	Pallor Skin hyperpigmentation	+	+	Nl	+	+	Painful, stiff, and swollen joints Keratoconjunctivitis sicca Weight loss Fatigue	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	Nl	Nl	Nl	Clinical findings + laboratory studies	Rheumatoid arthritis Infections
	Wiskott Aldrich syndrome	Mutation in GATA-1 Immune mediated bone marrow failure	−	+	−	+	−	Rare X-linked recessive disease	Immunodeficiency Positive family history	Eczema	−	+	Nl	−	−	Bloody diarrhea	↓	↓	↓	Pancytopenia	Hypocellular bone marrow Small but low platelets	Nl	Nl	Nl	Genetic study	Recurrent infections autoimmune disorders Malignancy
	GATA2 deficiency	Immune mediated bone marrow failure	−	+	−	+	−	Rare	Immunodeficiency Positive family history	Purpura Petechiae	−	+	↓	+	+	−	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	Nl	Nl	Nl	Genetic study	Recurrent infections autoimmune disorders Malignancy
	Hemophagocytic lymphohistiocytosis	Immune mediated bone marrow failure	−	+	−	+	−	Rare	Immunodeficiency Positive family history	Purpura Petechiae	−	+	↓	+	+	−	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	Nl	Nl	Nl	Genetic study	Recurrent infections autoimmune disorders Malignancy
GI disorders	Portal hypertension/cirrhosis	Splenomegally	−	−	+	−	+	Any	Cirrhosis Alcohol use	Purpura Petechiae	−	+	↓	+	+	−	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	↑	↑	Nl	Clinical manifestation	Portal vein thrombosis Hepatorenal syndrome Variceal hemorrhage Hepatic hydrothorax Spontaneous bacterial peritonitis
	Storage diseases (eg, Gaucher)	Splenomegaly Bone marrow infiltration	+	−	+	+	−	Rare in children	Family history	Skin rash	−	+	↓	+	+	−	↓	↓	↓	Pancytopenia	Hypocellular bone marrow
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	Direct bone marrow suppression	+	+	−	−	+	Any	Bacterial infection	Petechiae Purpura Erythema Ulceration	+	±	Nl to ↓	−	±	Malaise Lymphadenopathy	↓/↑	↓	↓/↑	Pancytopenia	NA	↑	↑	+ Depends on the etiology	Clinical manifestation + culture	Associated with ↑ mortality
	Viral infection such as HIV, hepatitis, Epstein-Barr virus	Marrow suppression Splenomegaly	−	+	+	−	+	Any	High risk behaviors Close contact	Petechiae Purpura	+	−	Nl	±	±	Lymphadenopathy Muscle weakness Joint swelling Focal neurological deficits Depends on etiology	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	Nl	Nl	Hematuria	Clinical manifestation + lab tests	Depends on etiology Encephalomyelitis
Nutritional	Megaloblastic anemia	Ineffective hematopoiesis	−	+	−		+	Any	Malnutrition Alcohol use	Normal	−	−	Nl	−	−	Fatigue Weakness	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	Nl	Nl	Nl	Laboratory findings	NA
	Excessive alcohol	Ineffective hematopoiesis	−	+	−	−	+	Alcoholism	History of alcohol use	Normal	−	−	Nl	+	+	Hepatomegaly	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	↑	↑	Nl	Clinical manifestation	Chronic liver disease
	Other nutritional deficiency such as copper deficiency, zinc toxicity	Ineffective hematopoiesis	−	+	−	−	+	Any	Malnutrition Alcohol use	Normal	−	−	Nl	−	−	Fatigue Weakness	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	Nl	Nl	Nl	Laboratory findings	NA
	Malnutrition	Ineffective hematopoiesis	−	+	−	−	+	Any	Malnutrition Alcohol use	Normal	−	−	Nl	−	−	Fatigue Weakness	↓	↓	↓	Pancytopenia	Hypocellular bone marrow	Nl	Nl	Nl	Laboratory findings	NA
Medications	Medications such as: Cytotoxic drugs Idiosyncratic reactions to medications	Immune destruction	−	+	−	−	+	Patients with malignancy	Radiation Cancer	Purpura Petechiae	−	+	Nl	−	−	−	↓	↓	↓	Pancytopenia	Hypocellular bone marrow Megakaryocytic hypoplasia or aplasia	↑	↑	Hematuria	Clinical manifestation + exclusion of the other causes	Thrombosis
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