Pendekatan Diagnostik

Pansitopenia
Dian Riani 2009730132
Pembimbing : Dr. Tuti Sri Hastuti Sp.PD
M-Kes
jumlah 3 komponen darah:
Eritrosit, Leukosit dan Trombosit.
Anemia, leukopenia,
dan trombositopenia.
produksi darah di
sumsum tulang
Bone marrow faillure
syndrome
Immune mediated
destruction
Non immune mediated
sequestration in
peripher



Table of etiologies for pancytopenia. Abbreviation: GVHD, graft-versus-host disease
From the collection of Jeff K. Davies
Primer
Idiopatik
Kongenital
Fanconi anemia
Dyskeratosis congenital
Diamond blacfan anemia
Shwachman diamond syndrome
Severe congenital neutropenia
Kostman syndrome
Amegakaryotic thrombocytopenia
Sekunder
Obat-obatan
Sitotoksik
Chloramphenicol
Respon idiosinkrasi (immune mediated) :
NSAIDS
Colchicine
Chlorampenicol
Sulfonamid
Phenothiazine
Thiazid
Anti thyroid
Anti epileptik
Anti diabetik
Infeksi virus
Sering : hepatitis B dan C
Jarang : cytomegalo virus, epstein Barr Virus,
HIV, Hepatitis A, rubella, influenza, measles,
mumps
Infeksi mycobacterium
Penyakit autoimmune
Kimiawi (benzene, arsenik)
Infiltrasi keganasan
Hematologi: limfoma, leukimia, myeloma
Tumor solid
Paroxysmal nocturnal haemoglobinuria
Spplenomegali
Radiasi
Ringan Hemoglobin <8 gr/dL, sel PMN > 2000/mm
3
, trombosit
>20.000/mm
3
Sedang Hemoglobin <7 gr/dL, sel PMN < 500/mm
3
, trombosit
<20.000/mm
3
Berat Leukosit <200 /mm
3
, trombosit <10.000/mm
3
Derajat pansitopenia
Anamnesis
Pemeriksaan fisik
Pemeriksaan Hitung darah lengkap
Analisis darah tepi
Aspirasi dan biopsi sumsung tulang
Anemia aplastik
Sindrom gagal sumsum tulang
turunan
Riwayat keguguran
Riwayat menderita keganasan
Gangguan metabolik
Riwayat penyakit hati
Riwayat penggunaan obat
sitotoksik dan radio terapi
Pemeriksaan Fisik
Oral :
Ptekie/ Perdarahan di rongga mulut
(trombositopenia)
Stomatitis/chelitis (neutropenia, def.
Vit B12)
Hiperplasia gusi (leukimia )
Kandidiasis oral/ eksudat faring
(neutropenia, infeksi herpes virus)
Mata :
Perdarahan retina (trombositopenia)
Infiltrasi lekemik (leukimia akut)
Sklera ikhterik (Paroxysmal nocturna
hemoglobinuria, hepatitis, sirosis)
Epiphora (dyskeratosis congenital)
Respiratori :
Clubbing (ca. paru)
Takipnea
Kardiovaskular:
Takikardi, edema,
CHF
Bekas pembedahan
jantung (sindrom
kongenital).
Abdomen :
Nyeri perut kakan atas (
hepatitis )
Limfadenopati (infeksi,
penyakit limfoproliferatif,
HIV)
Tanda penyakit hati
kronis
Splenomegali (infeksi,
penyakit
myeloproliferatif,
limfoproliferatif)
Kulit :
Malar rash (SLE)
Purpura
(trombositopenia)
Pigmentasi retikular,
kuku displastik
(dyskeratosis
congenital)
Area hipopigmentasi
Hiperpigmentasi, caf
au lait (anemia fanconi
Muskuloskeletal :
Short stature ( fanconi
anemia, kelainan
congenital lain)
Artritis, sinovitis (SLE)
Jari-jari abnormal
(anemia fanconi)
Sign assosiated with HIV
:
Morbiliform rash
Sarkoma kaposi,
nodul ulseratif
Laboratorium
Pemeriksaan standar
Hitung darah lengkap
Apusan darah tepi
Hitung retikulosit darah
Fungsi hati dan serologi hepatitis
Tes koagulasi, bleeding time, fibrinogen, D-dimer
Tes direct antiglobulin
Serum B12 dan folat
Seru HIV
TES anti nucleid acid
Biopsi sumsum tulang
Selularitas:
: gangguan produksi darah: pasca kemoterapi, sepsis/infeksi
akut, HIV Stadium lanjut, syndrom myelodisplasi hipoplastik,
IBMFS,anemia aplastik idiopatik, SLE, PNH
N/: produksi yang tidak efektif/destruksi/sekuestrasi sel-sel
darah: myelodisplasia, leukimia akut/kronik,myeloma dengan
plasma selnya, infiltrasi keganasan, HIV stadium dini/akut,
anemia megaloblastik.

Histologi :
Infiltrasi sel
Blast
Gambaran myelodispplasia
Aspirasi Sumsum Tulang
Sitologi (perubahan megaloblastik, perubahan
displastik, infiltrasi sel abnormal dan infeksi)
Imunofenotif (leukimia akut dan kronik,
penyakit limfoproliferatif)
Sitogenik (myelodisplasi, leukimia akut dan
kronik, penyakit limpoproliferatif).
Temuan laboratorium

Common
Differential 1st Tests Other Tests
Chemotherapy peripheral blood: anisocytosis, poikilocytosis,
basophilic stippling
bone marrow aspirate: variable hypoplasia
bone marrow biopsy: hypoplasia, megaloblastosis
Radiotherapy peripheral blood: anisocytosis, poikilocytosis,
basophilic stippling
bone marrow aspirate: variable hypoplasia
bone marrow biopsy: hypoplasia, megaloblastosis
Vitamin B12 deficiency peripheral blood film: oval macrocytic RBCs, irregular
size and shape of RBCs (anisocytosis and
poikilocytosis), hypersegmented granulocytes (>5
lobes)
serum reticulocyte count: usually low
serum B12: low in B12 deficiency
bone marrow aspirate: hypercellular, megaloblastic
erythroblasts, giant metamyelocytes
serum LDH: moderately raised
serum bilirubin: moderately raised, mostly indirect
Folic acid deficiency peripheral blood film: oval macrocytic RBCs,
irregular size and shape of RBCs (anisocytosis and
poikilocytosis), hypersegmented granulocytes (>5
lobes)
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
Bone marrow infiltration by
nonhematologic malignancy
peripheral blood film: leuko-erythroblastic cell
forms
bone marrow aspirate: clumps of tumor cells
CXR: mass (lung cancer)
serum LFTs: elevated ALT and AST ( hepatic
metastases)
serum coagulation profile: prolonged PT and PTT
serum fibrinogen and D-dimer: diminished
fibrinogen and elevated D-dimer (indicative of
chronic disseminated intravascular coagulation)
CT of abdomen: may reveal
abdominal or renal mass
serum prostatic-specific
antigen: elevated in prostate cancer
thyroid ultrasound: irregular mass or
nodule
breast imaging: mass or calcifications
Non-Hodgkin lymphoma 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
Hairy cell leukemia peripheral blood film: circulating
lymphoma cells
bone marrow aspirate: increased
proportion of lymphoid cells
immunophenotyping (of peripheral blood
or bone marrow): clonal population of
lymphoid cells
Chronic lymphocytic
leukemia
peripheral blood film: circulating leukemia
cells 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
Myelodysplasia peripheral blood film: may have irregular
or macrocytic RBCs, 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), dysplastic
changes
cytogenetics: may be abnormal
Cirrhosis peripheral blood film: macrocytes, target
cells, stomatocytes, acanthocytes
reticulocyte count: elevated or normal
serum LFTs: elevated
bone marrow
aspirate: hypercellular, erythroid
hyperplasia
Hepatitis B peripheral blood film: macrocytes, target cells,
stomatocytes, acanthocytes
reticulocyte count: elevated or normal
serum LFTs: elevated
serum HBsAg: positive
bone marrow
aspirate: hypercellular,
erythroid hyperplasia
Hepatitis C peripheral blood film: macrocytes, target cells,
stomatocytes, acanthocytes
reticulocyte count: elevated or normal
serum LFTs: elevated
serum antihepatitis C virus (HCV): presence of
HCV antibodies
bone marrow
aspirate: hypercellular,
erythroid hyperplasia
Autoimmune hepatitis peripheral blood film: macrocytes, target cells,
stomatocytes, acanthocytes
reticulocyte count: elevated or normal
serum LFTs: elevated
autoantibody screen: positive
bone marrow
aspirate: hypercellular,
erythroid hyperplasia
HIV peripheral blood film: atypical lymphocytes
(acute seroconversion), rouleaux, dysplastic
neutrophils
reticulocyte count: reduced
HIV serology: positive
bone marrow aspirate: hypercellular (acute
seroconversion), hypocellular,
dyserythropoiesis
protein
electrophoresis: polyclo
nal
hypergammaglobulinem
ia
Cytomegalovirus infection peripheral blood film: atypical lymphocytes, spherocytes if coexisting
hemolysis
CMV-specific IgM and IgG: positive
bone marrow aspirate: cellularity usually increased, hemophagocytosis
may be prominent
bone marrow trephine biopsy: cellularity usually increased
Mycobacterial infection peripheral blood film: rouleaux
reticulocyte count: reduced
bone marrow aspirate: reduced cellularity, hemophagocytosis
bone marrow trephine biopsy: reduced cellularity, granulomas, fibrosis
bone marrow culture: positive for organism
Uncommon
Differential 1st Tests Other Tests
Acute myeloid leukemia peripheral blood film: blasts on blood film,
presence of Auer rods
serum PT, PTT, fibrinogen, D-dimer: may be
abnormal, suspect DIC
bone marrow aspiration: usually hypercellular
with blasts, rarely hypocellular
bone marrow biopsy: presence of blasts,
infiltration, Auer rods
immunophenotyping: detection of clonal
population of blasts
cytogenetics: identification or nonrandom
chromosomal abnormalities
serum PT, PTT, fibrinogen, D-dimer:prolonged PT,
PTT; diminished fibrinogen, elevated D-dimer
Acute lymphocytic leukemia peripheral blood film: blasts may or may not be
present
bone marrow aspirate: hypercellular with blasts;
occasionally hypocellular (childhood ALL)
immunophenotyping (of peripheral blood
or bone marrow): detection of clonal
population of blasts
cytogenetics: identification of nonrandom
chromosomal abnormalities
Multiple myeloma peripheral blood film: rouleaux, 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 electrophoresis:monoclonal
serum protein and urinary Bence-Jones proteins
(light chains) detected
radiologic skeletal survey: lytic lesions
and/or osteopenia
Myelofibrosis peripheral blood film: leuko-erythroblastic, tear drop RBCs
bone marrow aspirate: hypercellular and fibrotic, often dry
tap and nondiagnostic
serum and RBC
folate: usually diminished
serum B12: usually
elevated
Lysosomal storage
disorders
leukocyte glucocerebroside activity:reduced or absent
peripheral blood film: pancytopenia
reticulocyte count: may be high, normal, or reduced
bone marrow aspirate: may reveal Gaucher cells
bleeding time: prolonged
Anorexia nervosa peripheral blood film: red cell acanthocytes, poikilocytosis
and basophilic stippling
reticulocyte count: low
bone marrow aspirate: hypocellular, reduced hematopoietic
cells, may show gelatinous transformation
bone marrow trephine biopsy: hypocellular without
infiltration or fibrosis
diepoxybutane test: normal
Graft-versus-host
disease
peripheral blood film: no specific features
reticulocyte count: low
bone marrow aspirate: hypocellular, reduced hematopoietic
cells, increased macrophages, erythrophagocytosis
bone marrow trephine biopsy: hypocellular without
infiltration or fibrosis, increased macrophages
skin, liver, upper GI biopsy: characteristic appearances of
acute GVHD
HLA typing of peripheral blood lymphocytes: chimerism
Heavy metal
(arsenic) poisoning
peripheral blood film: basophilic stippling
bone marrow aspirate: hypocellular without infiltrate
or fibrosis, decreased hematopoietic cells,
dyserythropoiesis
bone marrow trephine biopsy: hypocellular without
infiltration or fibrosis dyserythropoiesis
diepoxybutane test: normal
screening for PNH clone: negative
arsenic level (serum, urine, hair, nails):elevated





Parvovirus infection
in sickle cell anemia
CBC: drop in hemoglobin concentration of >30 percent
secondary to complete arrest of erythropoiesis
reticulocyte count: decrease or absence of
measurable reticulocytes
bone marrow biopsy: remarkable for severe aplasia
Dyskeratosis
congenita
peripheral blood film: red cells usually macrocytic
reticulocyte count: low or absent
bone marrow aspirate: hypocellular, reduced
hematopoietic cells, dyserythropoiesis common
bone marrow trephine biopsy: hypocellular without
infiltration or fibrosis
diepoxybutane test: normal (peripheral blood
lymphocytes)
screening for PNH clone: may be present
peripheral blood and/or bone marrow
immunophenotyping: normal
blood and/or bone marrow cytogenetics:clonal
abnormalities present in some patients
genetic studies: may identify
1 of several genetic mutations
telomere length: abnormally
short; length in lymphocytes
and granulocytes <1 percentile
for age
Paroxysmal nocturnal
hemoglobinuria
peripheral blood film: polychromasia
reticulocyte count: relative reticulocytosis
bone marrow aspirate: hypocellular, reduced hematopoietic
cells, mast cells may be increased
diepoxybutane test: normal
screening for PNH
clone: positive
Idiopathic aplastic anemia peripheral blood film: normocytic or mildly macrocytic
RBCs, 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 test (peripheral blood
lymphocytes): normal
screening for paroxysmal nocturnal hemoglobinuria clone
(peripheral blood, bone marrow): detectable in up to 30% of
patients
peripheral blood, bone marrow
immunophenotyping: normal
peripheral blood, bone marrow cytogenetics: abnormal
clones present in a minority of patients
Fanconi anemia peripheral blood film: RBCs usually macrocytic
reticulocyte count: low or absent
bone marrow aspirate: hypocellular dyserythropoiesis
diepoxybutane test (peripheral blood
lymphocytes): increased chromosomal breakage
Idiopathic portal
hypertension
peripheral blood film: no specific features
reticulocyte count: elevated or normal
serum LFTs: normal or mildly elevated
bone marrow
aspirate: hypercellular, erythroid
hyperplasia
bone marrow trephine
biopsy:hypercellular, erythroid
hyperplasia
Chronic myeloid
leukemia
peripheral blood film: myeloid maturing cells,
elevated basophils, eosinophils
cytogenetics: Philadelphia chromosome
positive
bone marrow biopsy: granulocytic hyperplasia
Brucellosis peripheral blood film: no specific features
bone marrow aspirate: trilineage
hypercellularity, hematophagocytosis
blood and bone marrow cultures: positive for
organism
Leishmaniasis peripheral blood film: rouleaux; 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, hematophagocytosis, small
granulomata
immunochromatographic or PCR-based tests
on peripheral blood or bone marrow
aspirate: positive for organism
Hemophagocytosis
syndromes
peripheral blood film: no specific features
bone marrow aspirate: trilineage
hypercellularity, hematophagocytosis
blood and bone marrow cultures: positive for
organism
autoimmune screen: positive ANA
and anti-ds DNA
serum ferritin: >10,000 mcg/L
molecular genetic testing: specific
karyotype present
Drug-induced immune
pancytopenia
platelet-specific antibodies: positive
peripheral blood film: no specific features
reticulocyte count: elevated
bone marrow aspirate: hypercellular
bone marrow trephine biopsy: hypercellular
Evans syndrome with
associated neutropenia
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
Systemic lupus
erythematosus
peripheral blood film: rouleaux
autoimmune screen: positive ANA and anti-DNA
ultrasound of the abdomen: splenomegaly
bone marrow aspirate: hypocellular, Adysplastic changes, hematophagocytosis
bone marrow trephine biopsy: hypocellular, benign lymphoid aggregates
Rheumatoid arthritis peripheral blood film: rouleaux
autoimmune screen: positive rheumatoid factor
bone marrow aspirate: hypocellular, dysplastic changes, hematophagocytosis
bone marrow trephine biopsy: hypocellular, benign lymphoid aggregates
ultrasound of the abdomen: splenomegaly
Infectious mononucleosis serum monospot: positive
peripheral blood film: atypical lymphocytes
Epstein-Barr nuclear antibody: present
blood serology (specific IgM and IgG titers) for viral capsid antigen: positive
Felty syndrome bone marrow biopsy: myeloid hyperplasia with excess of immature forms
autoimmune screen: positive rheumatoid factor
ultrasound of the abdomen: splenomegal
Pansitopenia bukanlah suatu gejala melainkan
suatu triad yang di sebabkan suatu proses
penyakit yang melibatkan sumsum tulang baik
primer maupun sekunder
Pansitopenia masalah sering di temui sehari-
hari
Perlu pemeriksaan yang lebih spesifik untuk
mengetahui penyebabnya.
Tinjauan Pustaka
1. Evaluation of pancytopenia Diagnostic
approach-Eppocrates online
hhtps://online.epocrates.com/u/29211024/
evaluation+of+pancytopenia.
2. Makalah lenkap Bandung hematologi
oncology meeting 2013, page 7-15