MYELOPROLIFERATIVE DISORDERS Flashcards

1
Q

What are the myeloproliferative disorders?

A

CML, polycythaemia rubra vera, essential thrombocytopoenia, myelofibrosis

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2
Q

What is the major dysfunction in:Chronic myeloid leukaemia?Polycythaemia rubra vera?Essential thrmbocytopoenia?Myelofibrosis?

A

Too many myeloid cells + philadelphia chromosome Too many red cells Too many platelets Excessive fibrosis in the marrow secondary to a probable ET/PRV

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3
Q

What is the most common genetic mutation in MPNs?

A

JAK2 mutation

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4
Q

What is the clinical presentation of polycythaemia vera?

A

Signs Plethoric faces Palpable spleen Pruritis (aquagenic) after contact with warm water * Tendency to thrombose * tendency to bleed * HTN * Conjunctival suffusion * Engorged retinal vessels Symptoms * Headache * Dizziness * Blurred vision * dyspnoea * ‘full’ feeling in head

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5
Q

There are several causes of polycythaemia. Other than PRV what are they?

A

Hypoxia- normal physiological response to low oxygen, smoking, lung disease, cyanotic heart disease, altitude Fibroids Excessive EPO

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6
Q

What is the treatment of PV? What are the objectives of this treatment?

A

To reduce the risk of thrombosis and haemorrhage To minimise the risk of transformation to acute leukaemia and myelofibrosis. TREATMENT Venesection to Hct<0.45Anti-platelets treatment: aspirin 75mgHydroxycarbamide therapy for thrombocytosis

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7
Q

Is essential thrombothaemia more common men or women?When are the peaks in age?

A

Women50-55 and 30 in women

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8
Q

What are the clinical features of ET?

A

Mostly asymptomatic at diagnosisVascular events: thrombosis (arterial more common than venous)Microvascular occlusive symptoms * Erythromelagia * Acroparasthesia * digital ischaemia * Neurological symptoms: TIA, migraine-like headache, dizziness * Vision disturbances: transient blindness, blurred vision, photopsia * Bleeding >plts 1500 * Acquired vWD

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9
Q

What is the first line cytoreductive treatment in ET?

A

Hydroxycarbamide which acts as a ribonucleotide reductase inhibitor

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10
Q

What are the clinical features of myelofibrosis?

A

Marrow failure Splenomegaly Hepatomegaly Hypermetabolic symptoms Hyperuricaeniia

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11
Q

What is the stereotypical findings for myelofibrosis on a blood film?

A

Tear drop shaped RBCNucleated red cell

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12
Q

What treatment is advised for myelofibrosis?

A

Ruxolitinib an oral JAK inhibitor

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13
Q

Which disease is a type of myeloproliferative disease which results in accumulation of myeloid progenitors, a high WCC and a large spleen?

A

CML

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14
Q

What is the genetic diagnostic marker for CML? How is it made? What does it code for?

A

The Philadelphia chromosome of 9 and 22 translocation. The subsequent Bcr-Abl protein is responsible for CML.

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15
Q

What is the treatment for CML and what is its mechanism of action?

A

Imatinib which binds and inhibits the ATP binding site of the tyrosine kinase.

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