Presentations
- Abnormal full blood count (FBC)
- Bleeding
- Bruising
- Developmental delay
- Dysmorphism
- Failure to thrive
- Lethargy
- Lymphadenopathy
- Organomegaly
- Recurrent infections
- Symptoms of organ infiltration
Conditions
- Acquired:
- Acquired cytopenias:
- alloimmune and autoimmune neutropenia
- alloimmune and autoimmune thrombocytopenia
- cytopenias and association with immune dysregulation conditions:
- haemophagocytic lymphohistiocytosis
- Evans syndrome and other immune-mediated cytopenia
- Haematological malignancy and clonal disorders leading to cytopenia:
- leukaemia / lymphoma
- myelodysplastic syndrome
- Marrow infiltration leading to cytopenia:
- solid malignancy
- solid tumour
For each presentation and condition, Advanced Trainees will know
how
to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life
when
developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate
preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and
management
Conditions
- Bone marrow failure syndromes:
- acquired aplastic anaemia
- congenital neutropenia
- Diamond–Blackfan anaemia
- Fanconi anaemia
- inherited bone marrow failure syndromes:
- telomere biology disorders
- Haemoglobinuria (PNH)
- Metabolic
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life
when
developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate
preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and
management
- Pathophysiology and classification / staging of malignancies
- Pathophysiology of primary and secondary bone marrow failure and immune-mediated cytopenia
- Treatment modalities of bone marrow aplasia and immune-mediated cytopenia
Investigations
- Initial investigations:
- biochemical evaluation
- blood film examination
- coagulation studies
- FBC
- morphology
- Further investigations:
- bone marrow examination
- cytogenetic, including:
- flow cytometry
- lumbar puncture
- medical imaging
- telomere length
- viral serology
- Genetic analysis, including:
- diagnostic
- risk stratifying techniques
- Required monitoring and risk of transformation of various congenital conditions
Procedures
- Evaluation of efficacy and toxicities of these treatments
- Treatment for bone marrow aplasia, such as:
- antithymocyte globulin and cyclosporin
- cessation of causative drugs
- other immune modulators
- stem cell transplantation
- Treatment of myelodysplastic syndrome, such as:
- azacitidine
- clinical trial agents
- supportive care
- Diagnosis of pain, management, and treatment options, and referral to appropriate specialists
- Evaluation of efficacy and toxicities of treatments
- Management of infections in immunocompromised patients
- Principles of palliative care
- Surveillance of non-malignant or clonal complications of inherited and acquired bone marrow disorders
