Differentials
Common
Chemotherapy
History
transient pancytopenia associated with chemotherapeutic agents
Exam
nausea and vomiting, hair loss, easy bruising, bleeding, pallor, fever, rigors
1st investigation
- peripheral blood:
irregular size and shape of red blood cells (anisocytosis and poikilocytosis), basophilic stippling
Radiotherapy
History
transient pancytopenia associated with radiotherapy
Exam
nausea and vomiting, hair loss, easy bruising, bleeding, pallor, fever, rigors
1st investigation
- peripheral blood:
irregular size and shape of red blood cells (anisocytosis and poikilocytosis), basophilic stippling
Vitamin B12 deficiency
History
may be a history of autoimmune disorders, vegan diet, total or partial gastrectomy, ileal resection, or coeliac disease; gradual onset of fatigue
Exam
glossitis and angular stomatitis, easy bruising or spontaneous bleeding (rare), peripheral sensory loss, balance and gait disturbance
1st investigation
- peripheral blood film:
oval macrocytic red blood cells (RBCs), irregular size and shape of RBCs (anisocytosis and poikilocytosis), hypersegmented granulocytes (>5 lobes)
More - serum reticulocyte count:
usually low
- serum B12:
low in B12 deficiency
More - bone marrow aspirate:
hypercellular, megaloblastic erythroblasts, giant metamyelocytes
- serum LDH:
moderately raised
- serum bilirubin:
moderately raised, mostly indirect
Other investigations
- intrinsic factor antibody:
may be positive
More
Folic acid deficiency
History
may be a history of diet poor in green vegetables, ileal resection, pregnancy with hyperemesis; gradual onset of fatigue
Exam
glossitis and angular stomatitis, easy bruising or spontaneous bleeding (rare), peripheral sensory loss, balance and gait disturbance
1st investigation
- peripheral blood film:
oval macrocytic red blood cells (RBCs), irregular size and shape of RBCs (anisocytosis and poikilocytosis), hypersegmented granulocytes (>5 lobes)
More - serum reticulocyte count:
usually low
- serum RBC folate:
low in folate deficiency
- bone marrow aspirate:
hypercellular, megaloblastic erythroblasts, giant metamyelocytes
- serum LDH:
moderately raised
- serum bilirubin:
moderately raised, mostly indirect
Other investigations
Bone marrow infiltration by non-haematological malignancy
History
may be a history of breast, prostate, lung, thyroid, kidney, gastrointestinal malignancy or metastatic melanoma in adults; neuroblastoma, rhabdomyosarcoma, Ewing's sarcoma, retinoblastoma in children; weight loss, anorexia, fatigue
Exam
cachexia, finger clubbing, breast lump, lymphadenopathy, enlarged irregular prostate, abdominal mass
1st investigation
- peripheral blood film:
leuko-erythroblastic cell forms
- bone marrow aspirate:
clumps of tumour cells
More - chest x-ray:
mass (lung cancer)
- serum liver function tests:
elevated alanine aminotransferase and aspartate aminotransferase (hepatic metastases)
- serum coagulation profile:
prolonged prothrombin time and partial thromboplastin time
- serum fibrinogen and D-dimer:
diminished fibrinogen and elevated D-dimer (indicative of chronic disseminated intravascular coagulation)
More
Other investigations
- CT of abdomen:
may reveal abdominal or renal mass
- serum prostate-specific antigen:
elevated in prostate cancer
- thyroid ultrasound:
irregular mass or nodule
- breast imaging:
mass or calcifications
Non-Hodgkin's lymphoma
History
gradual onset of fatigue, weight loss, lymphadenopathy, fever, rigors, respiratory distress, abdominal distention
Exam
cachexia, lymphadenopathy, hepatosplenomegaly
1st investigation
- peripheral blood film:
variable; may show circulating lymphoma cells
- bone marrow aspirate:
increased proportion of lymphoid cells
- immunophenotyping (of peripheral blood or bone marrow):
clonal population of lymphoid cells
- lymph node biopsy:
lymphoproliferative disorder
Other investigations
- polymerase chain reaction for tumour markers:
Bcl1 and Bcl2; T-cell receptor
Hairy cell leukaemia
History
gradual onset of fatigue, weight loss, lymphadenopathy, fever, rigors, respiratory distress, abdominal distention
Exam
cachexia, lymphadenopathy, hepatosplenomegaly
1st investigation
- peripheral blood film:
presence of hairy cells
More - bone marrow aspirate:
increased proportion of lymphoid cells
- immunophenotyping (of peripheral blood or bone marrow):
clonal population of lymphoid cells
Other investigations
- flow cytometry:
positive for immunophenotypic markers for hairy cell leukaemia
Chronic lymphocytic leukaemia
History
gradual onset of fatigue, weight loss, lymphadenopathy, fever, rigors, respiratory distress, abdominal distention
Exam
cachexia, lymphadenopathy, hepatosplenomegaly
1st investigation
- peripheral blood film:
circulating leukaemia cells
- bone marrow aspirate:
increased proportion of lymphoid cells
- immunophenotyping (of peripheral blood or bone marrow):
clonal population of lymphoid cells
Other investigations
- lymph node biopsy:
lymphoproliferative disorder
Myelodysplasia
History
incidental presentation common, gradual onset of fatigue, shortness of breath, recurrent infection, easy bruising, spontaneous mucosal bleeding, abdominal fullness
Exam
pallor, oedema, purpura, or petechiae
1st investigation
- peripheral blood film:
may have irregular or macrocytic red blood cells, dysplastic granulocytes, platelets may be large and hypogranular
- serum reticulocyte count:
usually low, may be normal or raised
- bone marrow aspirate:
usually hypercellular, rarely, hypocellular (hypocellular myelodysplasia [MDS]), dysplastic changes
Other investigations
- cytogenetics:
may be MDS-associated cytogenetic abnormalities
More
Cirrhosis
History
liver disease secondary to viral, autoimmune, or alcoholic hepatitis
Exam
pallor, jaundiced sclerae, abdominal distension, ascites, hepatosplenomegaly, dilated blood vessels on the face, male breast enlargement, distended blood vessels across the abdomen, atrophy of the testicles, red-coloured palms, white-coloured nails, decreased body hair, muscle cramps, itching, poor sleep, sexual dysfunction
1st investigation
- peripheral blood film:
macrocytes, target cells, stomatocytes, acanthocytes
- reticulocyte count:
elevated or normal
- serum liver function tests:
may be elevated
Other investigations
- bone marrow aspirate:
hypercellular, erythroid hyperplasia
Hepatitis B
History
key risk factors include living in/travel to an endemic region, intravenous drug use, multiple sexual partners, men who have sex with men, family history of hepatitis B infection or hepatocellular carcinoma, household contact with an infected individual, incarceration
Exam
pallor, jaundice, abdominal pain, ascites, hepatosplenomegaly
1st investigation
- peripheral blood film:
macrocytes, target cells, stomatocytes, acanthocytes
- reticulocyte count:
elevated or normal
- serum liver function tests:
elevated
- serum hepatitis B surface antigen (HBsAg):
positive
Other investigations
- bone marrow aspirate:
hypercellular, erythroid hyperplasia
Hepatitis C
History
intravenous drug use or transfusion, fatigue, myalgia, arthralgia
Exam
pallor, jaundice, ascites, spider haemangiomata
1st investigation
- peripheral blood film:
macrocytes, target cells, stomatocytes, acanthocytes
- reticulocyte count:
elevated or normal
- serum liver function tests:
normal or elevated
- serum hepatitis C virus (HCV) antibody:
positive
Other investigations
- bone marrow aspirate:
hypercellular, erythroid hyperplasia
Autoimmune hepatitis
History
fatigue, malaise, anorexia, nausea, pruritus
Exam
pallor, jaundice, ascites, hepatosplenomegaly, encephalopathy
1st investigation
- peripheral blood film:
macrocytes, target cells, stomatocytes, acanthocytes
- reticulocyte count:
elevated or normal
- serum liver function tests:
elevated
- autoantibody screen:
positive
More
Other investigations
- bone marrow aspirate:
hypercellular, erythroid hyperplasia
HIV
History
HIV disease or risk factors, influenza-like illness (acute seroconversion), fatigue, easy bruising, spontaneous bleeding, fever, rigors (chronic HIV disease)
Exam
cachexia, generalised lymphadenopathy, HIV-associated skin lesions (oral hairy leukoplakia, molluscum contagiosum, Kaposi's sarcoma)
1st investigation
- peripheral blood film:
atypical lymphocytes (acute seroconversion), stacked red blood cells (rouleaux formation), dysplastic neutrophils
- reticulocyte count:
reduced
- HIV serology:
positive
- bone marrow aspirate:
hypercellular (acute seroconversion), hypocellular, dyserythropoiesis
Other investigations
- protein electrophoresis:
polyclonal hypergammaglobulinaemia
Cytomegalovirus infection
History
fever, malaise, arthralgia, tender lymphadenopathy, pharyngitis
Exam
fever, generalised tender lymphadenopathy, pharyngeal exudates, mild splenomegaly, abdominal tenderness
1st investigation
- peripheral blood film:
atypical lymphocytes, spherocytes if co-existing haemolysis
- cytomegalovirus-specific IgM and IgG:
positive
More - quantitative nucleic acid amplification test:
number of genomic copies per volume of specimen
- bone marrow aspirate:
cellularity usually increased, haemophagocytosis may be prominent
- bone marrow trephine biopsy:
cellularity usually increased
Other investigations
Mycobacterial infection
History
HIV disease or other chronic immunosuppression, fever, weight loss, skin lesions, cough
Exam
cachexia, lymphadenopathy
1st investigation
- peripheral blood film:
Stacked red blood cells (rouleaux formation)
- reticulocyte count:
reduced
- bone marrow aspirate:
reduced cellularity, haemophagocytosis
- bone marrow trephine biopsy:
reduced cellularity, granulomas, fibrosis
- bone marrow culture:
positive for organism
Other investigations
- sputum culture:
positive atypical mycobacterial culture
Uncommon
Acute myeloid leukaemia
History
more common in older adults (but could be any age); rapid onset of fatigue, shortness of breath, fever, rigors
Exam
lymphadenopathy, hepatosplenomegaly, mucosal bleeding
1st investigation
- peripheral blood film:
blasts on blood film, presence of Auer's rods
- serum prothrombin time (PT), partial thromboplastin time (PTT), fibrinogen, D-dimer:
may be abnormal; suspect disseminated intravascular coagulation
- bone marrow aspiration:
usually hypercellular with blasts, rarely hypocellular
More - bone marrow biopsy:
presence of blasts, infiltration, Auer's rods
- immunophenotyping:
detection of clonal population of blasts
- cytogenetics:
identification or non-random chromosomal abnormalities
Other investigations
Acute lymphoblastic leukaemia (ALL)
History
rapid onset of fatigue, shortness of breath, fever, rigors
Exam
fever, lymphadenopathy, hepatosplenomegaly, gum infiltration, pallor, petechiae, purpura; papilloedema, nuchal rigidity, and meningismus
1st investigation
- peripheral blood film:
blasts may or may not be present
- bone marrow aspirate:
hypercellular with blasts; occasionally hypocellular (childhood ALL)
Other investigations
- immunophenotyping (of peripheral blood or bone marrow):
detection of clonal population of blasts; specific lymphoid lineage; clinically important cell surface antigens
- cytogenetics:
may detect cytogenetic abnormalities (e.g., Philadelphia chromosome)
Multiple myeloma
History
gradual onset of fatigue, weight loss, fever, rigors, back pain, constipation (due to hypercalcaemia), bone pain
Exam
pallor, vertebral collapse; less commonly hyperviscosity syndrome (purpura, visual defects, confusion, neuropathy)
1st investigation
- peripheral blood film:
stacked red blood cells (rouleaux formation), circulating plasma cells may rarely be present
- bone marrow aspirate:
plasma cell infiltrate, abnormal plasma cells, plasmablasts
- immunophenotyping (of peripheral blood or bone marrow):
plasma cells exhibit restriction of kappa or lambda light chain expression
- serum and urine immunofixation:
paraprotein band (IgG, IgA, IgM, IgD, or IgE; and kappa or lambda light chain)
Other investigations
- radiological skeletal survey:
lytic lesions and/or osteopenia
Myelofibrosis
History
gradual onset of fatigue, weight loss, fever, night sweats, left upper quadrant discomfort
Exam
cachexia, pallor, splenomegaly, hepatomegaly
1st investigation
- peripheral blood film:
leuko-erythroblastic, teardrop-shaped red blood cells
- bone marrow aspirate:
hypercellular and fibrotic, often dry tap and non-diagnostic
Other investigations
- serum and red blood cell folate:
usually diminished
- serum B12:
usually elevated
Lysosomal storage disorders
History
gradual onset of fatigue, fever, rigors, bone pain, abdominal discomfort, fractures, spontaneous bruising, or mucosal bleeding
Exam
pallor, splenomegaly or hepatosplenomegaly, purpura and petechiae
1st investigation
- leukocyte glucocerebrosidase activity:
reduced or absent
- peripheral blood film:
pancytopenia
- reticulocyte count:
may be high, normal, or reduced
- bone marrow aspirate:
substrate-laden macrophages in Gaucher's disease
Other investigations
- bleeding time:
prolonged
Anorexia nervosa
History
may be a prior history of eating disorder, distorted body image and self-harming behaviour, amenorrhoea
Exam
decreased body mass index, parotid swelling, lanugo hair, bradycardia, hypotension
1st investigation
- peripheral blood film:
red cell acanthocytes, poikilocytosis and basophilic stippling
- reticulocyte count:
low
- bone marrow aspirate:
hypocellular, reduced haematopoietic cells, may show gelatinous transformation
- bone marrow trephine biopsy:
hypocellular without infiltration or fibrosis
- diepoxybutane test:
normal
Other investigations
Graft-versus-host disease (GVHD)
History
non-irradiated cellular product transfusion in immunocompromised patients, fatigue, spontaneous bruising and/or mucosal bleeding, fever, diarrhoea
Exam
rash (particularly hands and feet), jaundice, pallor, purpura, petechiae
1st investigation
- peripheral blood film:
no specific features
- reticulocyte count:
low
- bone marrow aspirate:
hypocellular, reduced haematopoietic cells, increased macrophages, erythrophagocytosis
- bone marrow trephine biopsy:
hypocellular without infiltration or fibrosis, increased macrophages
- HLA typing of peripheral blood lymphocytes:
chimerism
More
Other investigations
- skin, liver, upper gastrointestinal biopsy:
may be necessary to definitively rule in or rule out the diagnosis of GVHD
- urine, blood, and stool cultures:
excludes the possibility of infection
Heavy metal (arsenic) poisoning
History
environmental exposure (wood, glass production, semiconductor industry, smelting, pesticides), headaches, abdominal pain
Exam
pallor, jaundice, signs of portal hypertension may be present
1st investigation
- peripheral blood film:
basophilic stippling
- bone marrow aspirate:
hypocellular without infiltrate or fibrosis, decreased haematopoietic cells, dyserythropoiesis
- bone marrow trephine biopsy:
hypocellular without infiltration or fibrosis dyserythropoiesis
- diepoxybutane test:
normal
- flow cytometry for paroxysmal nocturnal haemoglobinuria clone:
negative
- arsenic level (serum, urine, hair, nails):
elevated
More
Other investigations
Parvovirus infection in sickle cell anaemia (and other haemolytic anaemias)
History
weakness, lethargy secondary to associated aplastic crisis
Exam
pallor, rash
1st investigation
- FBC:
drop in haemoglobin concentration of >30% secondary to complete arrest of erythropoiesis
- reticulocyte count:
decrease or absence of measurable reticulocytes
- bone marrow biopsy:
remarkable for severe aplasia
Other investigations
Dyskeratosis congenita (DC)
History
presents in the third or fourth decade of life, fatigue, spontaneous bruising and mucosal bleeding, fever, rigors (less common), chronic tearing, difficulty with urination
Exam
nail and skin atrophy, blocked tear ducts, urethral meatal stenosis, reticulated skin pigmentation, pallor, purpura, petechiae
1st investigation
- peripheral blood film:
red cells usually macrocytic
- reticulocyte count:
low or absent
- bone marrow aspirate:
hypocellular, reduced haematopoietic cells, dyserythropoiesis common
- bone marrow trephine biopsy:
hypocellular without infiltration or fibrosis
- diepoxybutane test:
normal (peripheral blood lymphocytes)
- flow cytometry for paroxysmal nocturnal haemoglobinuria (PNH) clone:
may be present
More - peripheral blood and/or bone marrow immunophenotyping:
normal
- blood and/or bone marrow cytogenetics:
clonal abnormalities present in some patients
Other investigations
- genetic studies:
may identify one of several genetic mutations
More - telomere length:
abnormally short; length in lymphocytes and granulocytes <1 percentile for age
Paroxysmal nocturnal haemoglobinuria (PNH)
History
previous venous thrombosis, fatigue, intermittent abdominal pain and dark urine, blood in stool
Exam
pallor, jaundice, portal hypertension
1st investigation
- peripheral blood film:
polychromasia
- reticulocyte count:
relative reticulocytosis
- bone marrow aspirate:
hypocellular, reduced haematopoietic cells, mast cells may be increased
Other investigations
- diepoxybutane test:
normal
- flow cytometry for PNH clone:
positive
More
Idiopathic aplastic anaemia
History
seronegative hepatitis, exposure to drugs; rapid onset of fatigue, fever, rigors, spontaneous bruising, mucosal bleeding
Exam
pallor, oedema, purpura, petechiae, stomatitis
1st investigation
- peripheral blood film:
normocytic or mildly macrocytic red blood cells, no immature precursors present
- serum reticulocyte count:
low or absent
- bone marrow aspirate:
hypocellular, mild dyserythropoiesis common
- bone marrow trephine biopsy:
hypocellular without fibrosis or infiltrate
- diepoxybutane (DEB) test (peripheral blood lymphocytes):
normal
More - flow cytometry for paroxysmal nocturnal haemoglobinuria (PNH) clone:
may be detectable in up to 30% of patients
More - peripheral blood, bone marrow immunophenotyping:
normal
- peripheral blood, bone marrow cytogenetics:
abnormal clones present in a minority of patients
Other investigations
- genetic testing:
may identify genetic abnormality
More
Fanconi's anaemia
History
thrombocytopenia, leukopenia preceding pancytopenia, prior cardiac or genitourinary abnormalities, fatigue, spontaneous bruising and mucosal bleeding, fever, rigors; may have long history of abnormal findings
Exam
short stature, structural abnormalities of upper and lower limbs, eyes, ears, gonads; hyperpigmentation, café au lait spots, purpura, petechiae
1st investigation
- peripheral blood film:
red blood cells usually macrocytic
- reticulocyte count:
low or absent
- bone marrow aspirate:
hypocellular dyserythropoiesis
- diepoxybutane test (peripheral blood lymphocytes):
increased chromosomal breakage
Other investigations
- genetic testing:
will identify the mutation in most cases
Other rare inherited cytopenias (e.g., Diamond Blackfan anaemia, Shwachman Diamond syndrome, amegakaryocytic thrombocytopenia)
History
anaemia and/or thrombocytopenia, leukopenia preceding pancytopenia, prior congenital anomalies characteristic of any of these syndromes (e.g., cardiac, skeletal, genitourinary, orofacial); fatigue, spontaneous bruising and mucosal bleeding, fever, rigors; may have a long history of abnormal findings in particular single cell cytopenias
Exam
short stature, characteristic structural abnormalities of upper and lower limbs, eyes, and ears; pallor, purpura, petechiae
1st investigation
- peripheral blood film:
red blood cells usually macrocytic
- reticulocyte count:
low or absent
- bone marrow aspirate:
hypocellular dyserythropoiesis
- fetal haemoglobin and erythrocyte adenosine deaminase activity (Diamond Blackfan anaemia):
elevated
- pancreatic enzymes:
abnormal (in particular stool elastase; Shwachman Diamond syndrome)
Other investigations
- genetic testing:
may identify genetic abnormality
More
Idiopathic portal hypertension
History
gastrointestinal bleeding secondary to oesophageal varices, no history of liver disease
Exam
pallor, ascites, splenomegaly, hepatomegaly, oedema
1st investigation
- peripheral blood film:
no specific features
- reticulocyte count:
elevated or normal
- serum liver function tests:
normal or mildly elevated
Other investigations
- bone marrow aspirate:
hypercellular, erythroid hyperplasia
- bone marrow trephine biopsy:
hypercellular, erythroid hyperplasia
Chronic myeloid leukaemia
History
fever, chills, malaise, weight loss, anorexia
Exam
splenomegaly
1st investigation
- peripheral blood film:
myeloid maturing cells, elevated basophils, eosinophils
- cytogenetics:
Philadelphia chromosome positive
- bone marrow biopsy:
granulocytic hyperplasia
Other investigations
- quantitative reverse transcription polymerase chain reaction:
identification of size and splice type, and detection and quantitation of BCR::ABL fusion
Brucellosis
History
travel to high risk areas (e.g., the Mediterranean Basin [Portugal, Spain, Southern France, Italy, Greece, Turkey, North Africa], Mexico, South and Central America, Eastern Europe, Asia, Africa, the Caribbean, the Middle East); fever; myalgia
Exam
splenomegaly, hepatomegaly, pallor, purpura, petechiae
1st investigation
- peripheral blood film:
no specific features
- bone marrow aspirate:
trilineage hypercellularity, haemophagocytosis
- blood and bone marrow cultures:
positive for organism
Other investigations
Leishmaniasis
History
fever, lymphadenopathy, skin discoloration
Exam
lymphadenopathy, splenomegaly, hepatomegaly, pallor, purpura, petechiae
1st investigation
- peripheral blood film:
stacked red blood cells (rouleaux formation); organisms rarely seen in peripheral blood film
- bone marrow aspirate:
trilineage hypercellularity; organisms may be seen within macrophages (Leishman-Donovan bodies)
- bone marrow trephine biopsy:
trilineage hypercellularity, haemophagocytosis, small granulomata
- polymerase chain reaction on peripheral blood or bone marrow aspirate:
positive for organism
Other investigations
- microscopic examination of relevant specimen:
amastigote form of the Leishmania species in macrophages or monocytes
Haemophagocytosis syndromes
History
may be primary (e.g., haemophagocytic lymphohistiocytosis) or secondary to a systemic disorder (e.g., T-cell lymphoma), malaise, fatigue, erythematous skin rash, abdominal discomfort
Exam
fever, lymphadenopathy, hepatosplenomegaly, neurological findings in familial disorder (e.g., irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, haemiplegia, quadriplegia, blindness, coma)
1st investigation
- peripheral blood film:
no specific features
- bone marrow aspirate:
trilineage hypercellularity, haemophagocytosis
- blood and bone marrow cultures:
positive for organism
Drug-induced immune pancytopenia
History
drug ingestion (e.g., quinine, sulfonamides, methotrexate, and rifampicin), rapid onset of fatigue, easy bruising, spontaneous bleeding
Exam
pallor, purpura, petechiae, rarely mild splenomegaly, mild jaundice
1st investigation
- platelet-specific antibodies:
positive
- peripheral blood film:
no specific features
- reticulocyte count:
elevated
- bone marrow aspirate:
hypercellular
- bone marrow trephine biopsy:
hypercellular
Other investigations
Evans syndrome with associated neutropenia
History
fatigue, dark urine, jaundice, easy bruising, spontaneous mucosal bleeding
Exam
pallor, purpura, petechiae; lymphadenopathy and hepatosplenomegaly, which may be subtle with a duration >6 months
1st investigation
- peripheral blood film:
polychromasia, spherocytes
- reticulocyte count:
elevated
- direct antiglobulin test:
positive
- platelet, neutrophil-specific antibodies:
positive
- bone marrow aspirate:
normal or trilineage hypercellularity
- bone marrow trephine biopsy:
normal or trilineage hypercellularity
Other investigations
- further tests for autoimmune lymphoproliferative syndrome (ALPS):
may be increased double-negative T cells; defective lymphocyte apoptosis; known ALPS-related germ-line pathological mutation or positive results from other functional assays
More
Autoimmune lymphoproliferative syndrome (ALPS)
History
bicytopenia or pancytopenia, other organs (e.g., the liver) may cause symptoms, may be a family history; in children with autoimmune bicytopenia or pancytopenia (Evans syndrome), a diagnostic work-up for ALPS is strongly suggested
Exam
splenomegaly and/or lymphadenopathy for >6 months, which may be subtle
1st investigation
- T-cell analysis:
increased double-negative T cells
- lymphocyte apoptosis:
may be defective
- genetic analysis:
ALPS-related germ-line mutation may be detected
Other investigations
Systemic lupus erythematosus
History
established connective tissue disorder, joint pain, swelling, fatigue, easy bruising
Exam
synovitis, joint deformity, malar rash, splenomegaly
1st investigation
- peripheral blood film:
stacked red blood cells (rouleaux formation)
- autoimmune screen:
positive antinuclear antibodies and anti-double stranded DNA
- ultrasound of the abdomen:
splenomegaly
- bone marrow aspirate:
hypocellular, dysplastic changes, haemophagocytosis
- bone marrow trephine biopsy:
hypocellular, benign lymphoid aggregates, bone marrow fibrosis
Other investigations
Rheumatoid arthritis
History
established connective tissue disorder, joint pain, swelling, fatigue, easy bruising
Exam
synovitis, joint deformity
1st investigation
- peripheral blood film:
stacked red blood cells (rouleaux formation)
- autoimmune screen:
positive rheumatoid factor
- bone marrow aspirate:
hypocellular, dysplastic changes, haemophagocytosis
- bone marrow trephine biopsy:
hypocellular, benign lymphoid aggregates
- ultrasound of the abdomen:
splenomegaly
Other investigations
Infectious mononucleosis
History
malaise, headache, low-grade fever
Exam
tonsillitis, pharyngitis, cervical lymphadenopathy, nodal tenderness
1st investigation
- serum monospot:
positive
- peripheral blood film:
atypical lymphocytes
- Epstein-Barr nuclear antibody:
present
- blood serology (specific IgM and IgG titres) for viral capsid antigen:
positive
Other investigations
Felty syndrome
History
rheumatoid arthritis, typically precedes other findings, may be long-standing (>10 years' duration)
Exam
splenomegaly
1st investigation
- bone marrow biopsy:
myeloid hyperplasia with excess of immature forms
- autoimmune screen:
positive rheumatoid factor
- ultrasound of the abdomen:
splenomegaly
Other investigations
- FBC:
neutrophil count <2000/microlitre, anaemia, thrombocytopenia
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