haematological case study

CASE 1

HISTORY

•A 30yrs old male,presented to OPD

with malaise, tiredness and

weakness.

•He is a known alcoholic.

PHYSICAL FINDINGS

INVESTIGATIONS

• PERIPHERAL BLOOD SMEAR- Anisopoikilocytosis

- Macro-ovalocytes

- Hypersegmented Neutrophil

• RBC INDICES- MCV- 110

- RETICULOCYTE COUNT- low

DIAGNOSIS??

MEGALOBLASTIC ANEMIAS

DEFINITION-

• Impaired DNA synthesis due to

deficiency of vitamin B12

and folic acid.

Biochemical Assays-

• Serum B12 & Folate levels – Automated chemiluminescence

• Serum LDH levels

• Serum Methylmalonic acid & Homocysteine levels – HPLC

• Intrinsic factor antibody test

• Serum gastrin or gastric juice Ph

Upper GI endoscopy and biopsy – Villous atrophy

•Increase in Homocysteine and Methy

malonic acid – Vit B 12 Deficiency

•Only increase in Homocysteine : Folate

deficiency

ATROPHIC GLOSSITIS KNUCKLE

HYPERPIGMENTATION

“BONE MARROW EXAMINATION IS NOT

REQUIRED FOR THE DIAGNOSIS OF

MEGALOBLASTIC ANEMIA”

CASE 2

HISTORY

• A 10yrs old girl presents with pallor and

weakness.

• Congenital anomalies seen

• Family history of cancer.

PHYSICAL FINDINGS

EPICANTH

AL FOLDS

ABSENT

THUMB

SHORT

STATUR

E

MICROCEPH

ALY

HYPERPIGMENTA

TION

HYPOGONAD

ISM

ABSENT

RADIUS

DIAGNOSIS??

FANCONI ANEMIA

• Inherited syndrome

• Autosomal recessive

• Includes- Pancytopenia

- Congenital anomalies

- Cancer susceptibility

FURTHER WORK-UP

• Demonstration of increased chromosomal

breakage in the presence of DNA cross-

linking agents such as MITOMYCIN C or

DIEPOXYBUTANE

“No other constitutional

pancytopenia is associated

with an abnormal

chromosomal breakage study”

CASE 3

HISTORY

•A 55yrs old male on chemotherapy

presents with pallor and dyspnea.

•Also complains of petechiae and

frequent minor infections.

INVESTIGATIONS

• PERIPHERAL BLOOD SMEAR-

Pancytopenia

• BONE MARROW ASPIRATION- Dry tap

DIAGNOSIS??

FURTHER WORK-UP

• BONE MARROW BIOPSY-

Hypocellular marrow

• No Splenomegaly

HYPOCELLULAR BONE MARROW BIOPSY

CRITERIA FOR SEVERE APLASTIC ANEMIA

At least 2 of the following peripheral blood findings:

• Reticulocytes <1%, corrected for hematocrit

• Absolute neutrophil count <500/μL (0.5 × 109/L)

• Platelets <20,000/μL (20 × 109/L)

• AND

• Bone marrow biopsy with <25% normal cellularity

• OR

• Bone marrow biopsy with <50% normal cellularity in which less

• than 30% of the cells are hematopoietic

CAUSES OF APLASTIC ANEMIA

ACQUIRED(80%)

• Idiopathic

• Drug induced

• Viral (hepatitis, EBV)

• Ionising radiation

• Toxins (pesticides, benzene, arsenic)

• Pregnancy

• Leukaemia

INHERITED(20%)

• Fanconi Anaemia

• Dyskeratosis congenita

• Shwachman-Diamond syndrome

• Diamond-Blackfan anemia

DRUGS CAUSING APLASTIC ANEMIA

• Anti cancer drugs :Alkylating agents

Antimetabolities

Antimitotics

• Antibiotics : Streptomycin

Tetracycline

Methicillin

Chloramphenicol

• Anti inflammatory drugs : Indomethacin

Ibuprofen

Aspirin

• Anti thyroid : Methimazole

Methylthiouracil

Propylthiouracil

• Anti hypertensive : Methyldopa

• Anticonvulsants : Hydantoins

Carbamazepine

• Antihistaminics : Cemitidine

Chlorpheniramine

“Most common cause Of

Aplastic Anemia is

IDIOPATHIC”

CASE 4

HISTORY

• A 20yr old male presents with sudden onset

malaise and fatigue with recurrent

abdominal pain.

• He also complains of dark color urine on

waking up.

INVESTIGATIONS

• PERIPHERAL BLOOD EXAMINATION-

Hemolytic picture seen

• BONE MARROW EXAMINATION-

Hypoplastic

DIAGNOSIS??

FURTHER WORK UP

• HAM’S TEST

FLOW CYTOMETRY

PAROXYSMAL NOCTURNAL

HAEMOGLUBINURIA

• PNH arises as a result of nonmalignant clonal

expansion of one or more hematopoietic stem

cells that have acquired somatic mutation of the

X-chromosome gene PIGA

(phosphatidylinositol glycan class A)

“ Best Diagnostc

test of Paroxysmal

Nocturnal

Haemoglobinuria

is by FLOW

CYTOMETRY ”

CASE 5

HISTORY

• A 8yr old child comes with sudden onset fever

and fatigue.

• Also gives history of recurrent pneumonia.

• On examination- generalised lymphadenopathy

present.

INVESTIGATIONS

DIAGNOSIS??

FURTHER WORK-UP

• CYTOGENETIC STUDY- t(12;21) present.

ACUTE LYMPHOBLASTIC

LEUKEMIA

ACUTE

LYMPHO-

-BLASTIC

LEUKEMIA

CASE 6

HISTORY

• A 40 yrs old male complains of fever and

malaise.

• On examination had gum hypertrophy and

splenomegaly.

INVESTIGATIONS

• PERIPHERAL BLOOD EXAMINATION-

DIAGNOSIS

??

ACUTE MYELOID LEUKEMIA- M5

FURTHER WORK-UP


CASE 7

HISTORY

• A 70 yrs old male patient complains of

fever and weakness.

• He has history of recurrent infections.

• History of unprovoked bleeding from skin

and gums.

INVESTIGATIONS• PERIPHERAL BLOOD EXAMINATION-

Pancytopenia

- Nucleated RBC’s

- Neutrophil with two lobes

DIAGNOSIS??

FURTHER WORK-UP

• BONE MARROW EXAMINATION- Ring sideroblasts seen

- Megakaryocytes with multiple nuclei.

MYELODYSPLASTIC SYNDROMES

• The myelodysplastic syndromes (MDS) are clonal

hematopoietic stem cell disorders characterized by

cytopenias with cellular marrow and a risk for

leukemic transformation.

• Features of dysplasia of hematopoietic cell lines with

impairment of proliferation and differentiation of these

cells.

• Hallmark – Ineffective hematopoiesis

CASE 8

HISTORY

• A 40 yr old male presents with fever and cough.

• He also complains of fatigue and weakness.

• On examination shows enlarged cervical lymph

nodes.

INVESTIGATIONS

• CHEST X-RAY- Shows pleural effusion.

• PERIPHERAL BLOOD SMEAR-

Pancytopenia.

DIAGNOSIS??

FURTHER WORKUP


Granuloma

• ZN STAIN- Shows acid fast bacilli.

• HIV POSITIVE

DISSEMINATED TUBERCULOSIS

Granuloma in a trephine biopsy section of

bone marrow from a

patient with AIDS and disseminated

atypical mycobacterial infection. H&E

Bone marrow granuloma from a patient with

AIDS and disseminated Mycobacterium avium

intracellulare infection. The macrophages

contain many acid-fast bacillli. Ziehl–Neelsen

stain

CASE 9

HISTORY

• Mr. A 55yrs old male patient, a railway

worker, consulted his doctor for tiredness,

malaise and anorexia.

• He was found to be mildly jaundiced with

an enlarged irregular hepatomegaly and

considerable ascites.

INVESTIGATIONS

• PERIPHERAL BLOOD SMEAR- Anisopoikilocytosis

- Macrocytosis

- Target cells

- Stomatocytes

DIAGNOSIS??

FURTHER WORKUP

• SONOGRAPHY- Enlarged spleen


Normocellular marrow with hematopoeisis

• HEPATITIS VIRUS STUDIES- Negative for A,

B and C.

HYPERSPLENISM• Splenic hyperactivity with increased blood cell destruction.

Diagnostic criteria

1. Splenomegaly

2. Pancytopenia

3. Normal or hypercellular bone marrow

4. Reversibility by splenectomy

HAEMOPHAGOCYTIC SYNDROME

• Also called Hemophagocytic lymphohistiocytosis

Clinical features

• Fever

• Hepatosplenomegaly

• Jaundice

• Lymphadenopathy

• Rash

LABORATORY FINDINGS

• Histiocytosis

• Hemophagocytosis

• Pancytopenia

• Eleveted serum ferritin

• Elevated liver enzymes

DYSKERATOSIS CONGENITA

• RARE inherited disorder.

• X-linked Recessive, autosomal dominant,

autosomal recessive.

• Pancytopenia + dematological

manifestation.

• Nail dystrophy and leukoplakia.

Mutations in DKC1 at band Xq28

Dermatological manifestations

INFECTIONS

• HIV

• Infectious mononucleosis

• Hepatitis B

• Hepatitis C

• Measles

• Hepatitis A

• Parainfluenza

• Influenza

haematological case study

Health & Medicine