Case Presentation:
In our morning report at WCH, we discussed a case of a patient presenting with chronic fatigue and macrocytic anemia. Subsequent assessment and investigations were consistent with a diagnosis of myelodysplastic syndrome (MDS).
Learning Points:
- Differential diagnosis of fatigue
- Differential diagnosis of macrocytosis
- Features of B12 and Folate Deficiency
- MDS: prognostication and basic management
Differential Diagnosis: Fatigue
Differential Diagnosis:
B12 Deficiency:
- physical exam findings include:
- dementia/delirium/altered mental status
- pallor/general anemia findings
- Associated thyroiditis or vitiligo findings
- Atrophic glossitis
- Shuffling, broad-based gait with loss of vibration sense and positive Rhomberg (“hard to walk in a dark room”)
- suggestive investigations include:
- Macrocytic anemia and pancytopenia if severe
- Blood film: hypersegmented neutrophils, megaloblasts
- Low B12 levels with elevated MMA and homocysteine levels
- MMA and homocysteine levels rise prior to fall of B12
Folate Deficiency:
- no specific physical exam findings
- deficiency in utero associated with fetal neural tube defects
- supportive investigations include:
- megaloblastic anemia
- eleveated homocysteine but normal MMA
- low RBC folate (more stable measure of folate over several months)
- low serum folate low (fluctuates; more reflective of recent intake)
Myelodysplastic Syndrome:
- Key point in relation to this case: the presence of macrocytic anemia with a low reticulocyte count or a reticulocyte that is inappropriately normal in relation to the degree of the anemia indicates a possible underlying bone marrow problem.
- MDS: Represent a spectrum of malignant stem cell disorders associated with abnormal cell development and risk of progression to leukemia
- Presentation:
- Typically a disease of elderly men
- Asymptomatic with abnormalities in bloodwork/cytopenias
- If symptomatic, may relate to one of the cytopenias
- Diagnosis: relies on the findings on blood count, blood film, and bone marrow
- cytogenetic analysis is important in characterizing MDS substypes
- 5q variant confers a favourable prognosis and is associated with a specific therapy-lenalidomide; it is typically seen in females
- cytogenetic analysis is important in characterizing MDS substypes
- Prognosis: risk of conversion to leukemia can be calculated using IPSS (International Prognosis Scoring System)
- Management: depends on subtype, symptoms, and if refractory to transfusions. Hematology involvement is needed!