W24 - Leuk cases

Question 2

Acute promyelocytic leukaemia:

• is a subclass of ______
• genetic mutation is ___\_
• is an emergency because ________

Answer 2

Acute promyelocytic leukaemia:

• is a subclass of AML
• genetic mutation is t(15;17)
• is an emergency because quick deterioration + development of DIC

Question 3

A 5-year-old boy of Indian ethnic origin presented with lymphadenopathy and a mediastinal mass on chest radiology

•WBC 180 × 109/l, Hb 93 g/l and platelet count 43 × 109/l

The most likely cause of the mediastinal mass is:

1) Thymoma
2) Acute myeloid leukaemia
3) Acute lymphoblastic leukaemia
4) Haemorrhage into the mediastinum
5) Pneumonia with a leukaemoid reaction

Answer 3

3) Acute lymphoblastic leukaemia - likely is a T-ALL

high WBC, low hb, low platelet = leukaemia with BM infiltration

mediastinal mass is the thymus infiltrated by T lymphoblasts

not 1) thymoma because this is rare and would suggest 2 pathology going on (thymoma + leukaemia) which is less likely

Question 5

48-year-old male – railway engineer - attending A&E

• 2-week history bleeding gums
• Attended dentist - severe bleeding
• 1 episode of haematuria
• Minor bruising
• O/E: Left subconjunctival haemorrhage, small bruises over abdomen, no enlarged lymph nodes, no hepatosplenomegaly

What test is most likely to reveal the cause of the problem?

1. Liver function tests
2. Creatinine
3. Coagulation screen
4. Blood count, film and coagulation screen

Answer 5

4. Blood count, film and coagulation screen

Question 6

Blood film of someone with recent bleeding gums, hematuria, minor bruising, left subconjunctival haemorrhage, no enlarged LNs, no hepatosplenomegaly.

This is the blood film.

What do you see? Dignosis?

Answer 6

myeloid cells - granules with auer bodies.

Acute promyelocytic leukaemia

Question 7

48-year-old male – railway engineer - attending A&E

• 2-week history bleeding gums
• 1 episode of haematuria
• Minor bruising
• O/E: Left subconjunctival haemorrhage, small bruises over abdomen, no enlarged lymph nodes, no hepatosplenomegaly
• Tests: normal renal function, minor liver derangement

FBC

• WBC 7.5 × 109/l (4.0‒11)
• Hb 109 g/l (130‒170)
• MCV 83 fl (83‒01)
• Platelets 21 × 109/l (120‒400)

Coagulation screen

• PT 13.4 s (9.6‒13.6)
• APTT 21.5 s (24‒32)
• Fibrinogen 0.97 g/l (1.8‒3.6)

Wht is the short APTT and low fibrinogen? what is the suspecting diagnosis?

Answer 7

Short APTT = activation of coagulation factors

low fibrinogen

= suspect DIC in background of leukaemia (likely Acute promyelocytic leukaemia)

Question 8

A 68-year-old retired secretary:

• Gradual onset of fatigue, lethargy and exertional dyspnoea
• Non-smoker, not much alcohol, good diet
• O/E: Pallor (conjunctival and nail bed), mild ankle oedema
• Tests: WCC normal, Hb low, MCV high, neutrophil now, platelet normal, ferritin high.
• What (3) do you see? What do you do next?

Answer 8

1. macrocytes present
2. oval macrocytes/hypersegmented neutrophils absent (which could suggest vitB12/folate deficiency)
3. hypochromic microcytes (suggests sideroblastic anaemia)

=> check serum B12, folte, LFTs, thyroid, + BM Aspirate

Question 9

BM aspirate of 68 y.o. female with grdual onset fatigue, lethargy, exertional dyspnoea, and pallor:

what (2) do you see? diagnosis?

Answer 9

1. Increased blast cells
2. Ring sideroblasts (erythroblsts with iron loaded mitochondria)

Diagnosis = myelodysplastic syndrome (MDS)

Question 10

A 72-year-old Indian woman

• Vegetarian, teetotal, non-smoker
• PC: SOB on exertion, fatigue, painful gums and tongue, unable to eat spicy food
• O/E: pallor only
• Bloods: WBC normal, Hb low, MCV high, platelet normal

What (3) does the blood film show? likely diagnosis?

Answer 10

1. Hypersegmented neutrophil
2. Macrocytes
3. Oval macrocytes

Vitamin B12/folate deficiency

Question 12

• A 70-year-old woman was referred to a vascular surgeon because of gangrenous toes. Breathless on exertion and morning cough.
• O/E: reduced femoral and distal pulses on side of affected toes, not breathless at rest, no cyanosis, plethora, conjunctival suffusion, spleen not felt

Which test do you do next? DDx?

Answer 12

Blood tests

Polycythaemia vera

Question 13

Which of the following tests would be most useful to confirm the diagnosis of acute promyelocytic leukaemia?

1) Cytochemistry
2) Immunophenotyping
3) Cytogenetic analysis/FISH/molecular genetic analysis

Answer 13

3) Cytogenetic analysis/FISH/molecular genetic analysis

Question 17

Megaloblast in the BM aspirate suggests…

Answer 17

Suspect pernicious anaemia => test anti-IF and anti-parietal cell abs

Megaloblastic anemia is a macrocytic anemia that is characterized by large RBC precursors (megaloblasts) in the bone marrow and that is usually caused by nutritional deficiencies of either folic acid (folate) or vitamin B12 (cobalamin)

Question 19

What test would you do next to try to confirm PV?

1) Molecular analysis for JAK2 mutation
2) Measure total volume of red cells in circulation
3) Bone marrow aspirate and trephine biopsy

Answer 19

1) Molecular analysis for JAK2 mutation

Question 20

Diagnosis of PV - How would you treat the patient?

1) Venesection alone
2) Imatinib
3) Venesection plus hydroxycarbamide
4) 432P

Answer 20

3) Venesection plus hydroxycarbamide (anti-metabolite)

Question 21

Q on picture.

1. Acute lymphoblastic leukaemia
2. Chronic lymphocytic leukaemia
3. HIV infection
4. Infectious mononucleosis
5. Whooping cough

Answer 21

2.Chronic lymphocytic leukaemia (CLL)

Question 22

Q on picture.

Answer 22

RBC, Hb, Hct are high = polycythaemia

Qs to ask for figuring out the cause:

–Is it a true or a pseudo-polycythaemia?

–Is he hypoxic from chronic lung disease or cyanotic heart disease?

–Does he have inappropriate erythropoietin secretion from a cyst or tumour?

–Does he have an intrinsic bone marrow disease?

Question 23

Q on slide. Choose from:

1. Chronic myeloid leukaemia
2. Polycythaemia vera
3. Pseudo-polycythaemia
4. Renal artery stenosis
5. Smoking induced hypoxia

Answer 23

2. Polycythaemia vera

NB:

her RBC, hb, PCV are high

her WBC, neutrophil count, basophil count are high

her platelet count is high

= most likely PV

Question 25

Q on slide.

Answer 25

Reactive neutrophilia

Question 26

Q on slide.

Answer 26

CML

Question 27

Think of 3 possibilities of brusiing in this child

Answer 27

• Non-accidental injury
• Coagulation abnormality (haemophilia)
• Thrombocytopenia (ALL, ITP)

Question 28

FBC of North African woman with an 18 month old baby.

Hb 97 g/L

MCV low

MCH low

MCHC low

Blood film: microcytic hypochromic, some anistocytosis, some pencil cells (elongated red cells)

Most likely diagnosis?

Answer 28

Iron deficiency anaemia

NB: Its only a moderate anaemia and a moderate microcytosis. And elongated red cells fit in with IDA

Question 29

What is this condition?

List 3 possible associated haematological abnormalities

Answer 29

Rheumatoid arthritis

1. Anaemia of chronic disease
2. IDA resulting from aspirin or NSAID use
3. Neutropenia/thrombocytopaenia from drug toxicity

Question 32

What tests (3) could you order to confirm polycythaemia vera?

Answer 32

1. JAK2 V617F mutation
2. BM spiration and trephine biopsy
3. Serum erythropoietin

Question 33

•A 21-year-old woman presented with abdominal pain, bruising and altered level of consciousness

• low grade fever, platelet count 15 x 10^9/L, bilirubin raised, LDH greatly raised, creatinine marginally raised

What is the nature of the anaemia?

What is the most likely diagnosis?

Name 2 other differential diagnoses?

Answer 33

What is the nature of the anaemia? Microangiopathic haemolytic anaemia (MAHA)

What is the most likely diagnosis? Thrombotic thrombocytopenic purpura (TTP)

differentials? HUS, meningococcal septicaemia

Question 39

A 10-year-old girl presented with a painful right knee that had started when she knocked her knee in a swimming pool

• The next day she had become unwell with malaise, anorexia and fever
• She was febrile, R knee painful and swollen, XR of knee showed patchy changes in density in the right medial tibial plateau
• Blood tests showed

–WBC 6.6 × 109/l

–ESR 60 mm in 1 h (NR 0‒10)

–C-reactive protein (CRP) 27 mg/l (NR 0‒10)

What is the likely diagnosis?

1. Septic arthritis
2. Haemophilia A
3. Osteomyelitis
4. Thrombocytopenia
5. Haemophilia B

Answer 39

3.Osteomyelitis = resulting from Staphylococcus aureus infection

NB: likely not septic arthritis because: 1) XR showed abnormality with the bone, 2) osteomyelitis more likely in children than septic arthritis

Question 40

• A 1-year-old boy, an only child, presented to an Accident and Emergency department with a swollen right elbow following minor trauma
• On clinical examination and radiology there was no evidence of bony injury - pt discharged

Which analgesic would you not use? why?

Answer 40

Aspirin Reye’s syndrome (encephalopathy + liver damage)

Question 41

• A 1-year-old boy, an only child, presented to an Accident and Emergency department with a swollen right elbow following minor trauma
• On clinical examination and radiology there was no evidence of bony injury - pt discharged
• Three days later he was brought back with increased pain and swelling - joint aspiration yielded haemorrhagic fluid - given abx + discharged
• Four weeks later he was brought back as the effusion had not resolved - joint surgically explored (dark blood) and biopsy (synovitis) taken. bled persistently post-op

What test would you do? Likely diagnosis?

Answer 41

•A coagulation screen (PT + aPTT)

• a normal prothrombin time (PT)
• a prolonged activated partial thromboplastin time (aPTT)

= bleeding disorder = haemophilia A more likely so Factor VIII deficient

Question 43

What is the classic pentad of clinical features of thrombotic thrombocytopenic purpura (TTP)?

Answer 43

• Microangiopathic haemolytic anaemia
• Thrombocytopenia
• Fever
• Neurological abnormalities
• Renal impairment

Question 44

•The underlying defect in thrombotic thrombocytopenic purpura is a deficiency of a plasma protein called _______

what does this lead to?

Answer 44

von Willebrand factor cleaving protease (or ADAMTS13)

leads to low levels of protease => high evels of large multimers of vWF => platelet thrombi formation

Question 45

Thrombotic thrombocytopenic purpura (TTP) - what does the treatment involve?

Answer 45

1. Plasma exchange
   - no platelet transfusions
   - no corticosteroids (even though autoimmune disease in nature)

Question 46

• A previously healthy 20-year-old man presented with fever, sore throat, malaise, dyspnoea and abdominal pain
• Ten days before admission he had fallen on his left side and had attended Accident and Emergency with pain in the left chest wall - CXR normal
• On this presentation, temperature 39.70C, BP 115/95, pulse rate 96 beats/minute, generalized lymphadenopathy, pharynx inflamed, mild hepatomegaly, spleen palpable 2 cm below left costal margin, abdomen tender
• WBC 11.2 × 109/l, lymphocyte count 7.8 × 109/l, Hb 109 g/l, numerous atypical lymphocytes
• What test would you do?

Answer 46

Screening test for infectious mononucleosis (which was positive)

Question 47

splenomegaly occurs in ____% of patients with infectious mononucleosis

There is often a history of _______ with splenic rupture

Answer 47

splenomegaly occurs in 50% of patients with infectious mononucleosis

There is often a history of recent trauma (falling, turning in bed, coughing) with splenic rupture