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Year 2 Clinical Pathology > T7-L10: Chronic Myeloproliferative Disorders > Flashcards

T7-L10: Chronic Myeloproliferative Disorders Flashcards

1
Q

What are the signs and symptoms of Polycythaemia Vera?

A

Symptoms:

  • Itching (pruitis)
  • Plethoric face (Florid, red-faced)
  • Headaches due to increased viscosity of blood
  • General malaise
  • Tinnitus
  • Peptic ulcer
  • Gout due to increased red cell turnover
  • gangrene
  • Increased risk of thrombotic events

Signs:

  • Plethora
  • Engorged veins
  • Midl to moderate splenomegaly
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2
Q

How is Polycythaemia Vera diagnosed?

A
  • High haematocrit - recorded on 2 more more occasions
  • History to establish if it is primary (PV) or secondary ( has many causes) polycythaemia
  • Detailed history and examination
  • Tests including FBC, Ferritin, EPO
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3
Q

How do EPO levels differ in Primary compared to Secondary Polycythaemia?

A

Primary - Levels of EPO are low. This is as the bone marrow is producing excess RBC. The kidney is telling the bone marrow to the levels are high enough so EPO is reduced.

Secondary - High levels of EPO as the polycythaemia is driven by hypoxia and renal compensation leads to increased EPO levels.

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4
Q

Given secondary causes of Polycythaemia.

A
  • Central hypoxic process
  • Chronic lung disease
  • Right-to-left shunts heart disease
  • Drug induced
  • Smoking (most common cause)
  • High Altitude
  • Carbon monoxide poisoning
  • Renal disease
  • Congenital
  • Idiopathic causes
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5
Q

What is the mutation do we see in 97% of patients with Polycythaemia Vera?

A

JAK2 Mutation

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6
Q

What is the treatment for Polycythaemia Vera?

A
  • Venesections - this reduced the haematocrit but removing pint of blood at time
  • Aspirin - taken daily to reduce risk of thrombosis

Prognosis is good - 15 year median survival. There is a risk of developing AML and Myelofibrosis.

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7
Q

What are reactive causes of thrombocytosis?

A
  • Surgery
  • Infection
  • Inflammation
  • Malignancy
  • Iron deficiency
  • Hyposplenism
  • Haemolysis
  • Drug induced e.g. steroids, adrenaline etc.
  • Rebound post chemotherapy
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8
Q

What genetic mutations do we see in Essential thrombocytosis?

A
  • JAK2 mutation in 50%
  • CALR mutation in 45% of the rest

CALR mutation:
- Mutation in exon 9 of a gene
- Mechanism is unknown
Cell signalling protein in the ER

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9
Q

What are the treatments for Essential Thrombocytosis?

A
  • Antiplatelet such as aspirin
  • Anti-Xa such as Rivaroxaban in vasculopath patients
  • Cytoreduction such as Hydroxycarbaminde. Hydroxycarbamide is an anti-folate.
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10
Q

What is Myelofibrosis?

A

Myelofibrosisis a rare type of blood cancer in which the bone marrow (the soft, spongy tissue inside most bones) is replaced by fibrous scar tissue. It is considered a form of chronic leukaemia.

We have Pancytopenia. When an adult red cells are made in the long bones, pelvis and the sternum. In abnormalities, like in the neonate, the body compensates by making RBC in the spleen and liver. We get massive splenomegaly. We can also get extramedullary hemopoieses. We can get RBC made in the spine which can compress the spinal cord.

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11
Q

Give B symptoms. What myeloproliferative disorder are these symptoms in?

A

B symptoms:

  • Night Sweats
  • More than 10% weight loss
  • Persistant Fever

These are seen in Myelofibrosis.

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12
Q

What mutations do we see in myelofibrosis?

A

JAK2 mutation in 50% and CALR in 30%.

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13
Q

What are causes of splenomegaly? HINT: Chicago

A

C - Cancer
H - Haematological such as Myelofibrosis, CML, CLL
I - Infection e.g. Schistosomiasis, maleria, EBV
C - Congestion - liver disease and portal
A - Autoimmune - haemeolysis and SLE
G - Glycogen strorage disorders
O - Other such as amyloid and sarcoid

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14
Q

What is the treatment of myelofibrosis?

A

Treatment:

  • Supportive care such as blood transfusion, platelet transfusions
  • JAK2 inhibitors
  • Bone Marrows if young

The prognosis is quite poor. Median survival is 5 years.

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15
Q

What is chronic myeloid leukaemia? What is it characterised by?

A

Chronic myeloid leukaemia (CML) is a type of cancer that affects the white blood cells and tends to progress slowly over many years. It can occur at any age, but is most common in older adults around 60-65 years of age.

  • Leucocytosis +++
  • Anaemia
  • Leukoerythroblastic blood picture
  • Anaemia
  • Splenomegaly
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16
Q

What is the Philadelphia chromosome?

A

In CML There is a translocation between Chromosome 9 and 22 - Philadelphia chromosome.
A protein targeting kinase is produced by the translocation and therefore the oncogene. A treatment called Gleevec was produced to target the BCR-ABL tyrosine kinase at the active site. Imatinib shows a greater survival (Gleevec).

Prognosis shows: 95% long term survival. In a very small proportion of cases we would go onto use bone marrow transplant.

17
Q

What is the treatment for acute leukaemia tranformation blast crisis?

A

Acute leukemic transformation/blast crisis:
- Intensive chemotherapy, and TKI and Bone Marrow Transplant

There is still a poor outcome unfortunately.

18
Q

What is the likely diagnosis for the following case:

  • 72 year old is seen at GP’s with hypertension
  • Known smoker
  • Otherwise well and no recent infections
  • Base line FBC is performed
  • Hb 15.2
  • WCC 12.1
  • Plt 1050
  • Neut 9.1

History / examination- no evidence of infection, autoimmune condition or malignancy.

A

Platelet count is high. Smoker and HTN.

Essential thrombocytosis (JAK2 mutated)

  • JAK2 mutated in 50%
  • CALR mutation in 45%
19
Q

What is the likely diagnosis for the following case:

  • 50 year old presents to the GP with painful foot and headaches. Examination shows gout.

Background:

  • Known hypertensive
  • Smoker
Blood test: 
Hb 21.0
Wcc 15.5
Platelets 444
Neut 10.8
HCT 0.65
ESR 55
Uric Acid - <8 mg/dL  (low)
A

Raised haemoglobin. Known smoker and HTN. Shows gout.

Likely diagnosis is Polycythaemia.

JAK2 mutation detected

20
Q

What is the likely diagnosis for the following case:

42 year old IT company director develops Left sided chest pain
He has been feeling more tired recently and his daily run is taking longer
He is admitted to A&E

Background:
no medical illness

Admitted for ?PE and commenced LMWH

FBC
Hb 85
WCC 353
platelets 440
UE - normal
LFT- normal
D-dimer - 350 (slightly raised)
A

Shows raised Hb. Raised WCC and platelets.

Likely diagnosis is Chronic Myeloid Leukaemia.

Year 2 Clinical Pathology (68 decks)

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