Myelodysplastic syndrome

Question 1

Pathophysiology of myelodysplastic syndrome

Answer 1

Myelodysplastic syndrome is caused by the myeloid bone marrow cells not maturing properly and therefore not producing healthy blood cells. There are a number of specific types of myelodysplastic syndrome.

It causes low levels of blood components that originate from the myeloid cell line:

Anaemia
Neutropenia (low neutrophil count)
Thrombocytopenia (low platelets)

Question 2

Risk factors: meylodysplatic syndrome

Answer 2

It is more common in patients above 60 years of age and in patients that have previously had treatment with chemotherapy or radiotherapy.

There is an increased risk of transforming into acute myeloid leukaemia.

Question 3

Presentation: myelodysplastic syndrome

Answer 3

Patients may be asymptomatic and incidentally diagnosed based on a full blood count.

They may present with symptoms of anaemia (fatigue, pallor or shortness of breath), neutropenia (frequent or severe infections) or thrombocytopenia (purpura or bleeding).

Question 4

Diagnosis: myelodysplastic syndrome

Answer 4

Full blood count will be abnormal. There may be blasts on the blood film.

The diagnosis is confirmed by bone marrow aspiration and biopsy.

Question 5

Management: myelodysplastic syndrome

Answer 5

Depending on the symptoms, risk of progression and overall prognosis the treatment options are:

Watchful waiting
Supportive treatment with blood transfusions if severely anaemic
Chemotherapy
Stem cell transplantation