Acute Myeloid Leukaemia (AML)
= accumulation of early myeloid precursors in bone marrow, blood and tissues
Clinical Features:
- Anaemia
- Infections
- Easy bruising and haemorrhage
- Organ infiltration by leukaemia cells
Haematological Features
- Anaemia
- Low or high WCC with circulating leukaemia cells
- Low platelets
Diagnosis
- Morphology
- Immunological markers
- Cytogenetics: t(8;21), inv(16)
Treatment
- 3-4 cycles of IV cytotoxic drugs
- FLT3 inhibitors
- Decitibine and azacytidine for elderly patients (hypomethylating agents)
Complications of treatment
- Neutropenic sepsis: fever, hypotension, organ impairment
- Bleeding
Acute Lymphoblastic Leukaemia (ALL)
Clinical features:
- Fatigue, weight loss, night sweats
- Bruising, bleeding
- Hepatosplenomegaly, lymphadenopathy
- Mediastinal mass
Treatment for relapsed disease
- Blinatumomab
- Inotuzumab
- CAR-T cells
Myelodysplasia (MDS)
= stem cell disorders resulting in ineffective haematopoiesis with reduced production of cells
- Can transform into AML
, Von Willebrand Disease
= most common heritable bleeding disorder, autosomal dominant
Defect in VIII
Clinical features:
- Mucocutaneous bleeding
- Menorrhagia
Treatment
- Antifibrinolytics: tranexamic acid
- DDAVP
Haemophilia
= X linked recessive, A is factor VIII, B is FIX
Clinical features:
- Spontaneous bleeding
- Haemarthrosis
- Soft tissue bleeds
Treatment:
- DDAVP
- Antifibrinolytic agents
SIckle cell disease
Acute complications:
- Vaso-occlusive crisis: hands and feet, chest syndrome, abdo pain
- Septicaemia
- Aplastic crisis
Chronic complications:
- Hyposplenism, renal disease
- Avascular necrosis
- Leg ulcers, osteomyelitis
Treatment:
- Penicillin from 6 months
- Hydroxycarbamide
- Bone marrow transplant
B thalassaemia major
= very severe anaemia at 1-2 years of age
Clinical features:
- Anaemia
- Short stature
- Enlarged liver and spleen 'extramedullary hemopoiesis’
- Thalassaemic faces: maxillary hypertrophy, abnormal dentition
Treatment:
- Transfusion
- Iron chelation therapy: desferrioxamine
= accumulation of early myeloid precursors in bone marrow, blood and tissues
Clinical Features:
- Anaemia
- Infections
- Easy bruising and haemorrhage
- Organ infiltration by leukaemia cells
Haematological Features
- Anaemia
- Low or high WCC with circulating leukaemia cells
- Low platelets
Diagnosis
- Morphology
- Immunological markers
- Cytogenetics: t(8;21), inv(16)
Treatment
- 3-4 cycles of IV cytotoxic drugs
- FLT3 inhibitors
- Decitibine and azacytidine for elderly patients (hypomethylating agents)
Complications of treatment
- Neutropenic sepsis: fever, hypotension, organ impairment
- Bleeding
Acute Lymphoblastic Leukaemia (ALL)
Clinical features:
- Fatigue, weight loss, night sweats
- Bruising, bleeding
- Hepatosplenomegaly, lymphadenopathy
- Mediastinal mass
Treatment for relapsed disease
- Blinatumomab
- Inotuzumab
- CAR-T cells
Myelodysplasia (MDS)
= stem cell disorders resulting in ineffective haematopoiesis with reduced production of cells
- Can transform into AML
, Von Willebrand Disease
= most common heritable bleeding disorder, autosomal dominant
Defect in VIII
Clinical features:
- Mucocutaneous bleeding
- Menorrhagia
Treatment
- Antifibrinolytics: tranexamic acid
- DDAVP
Haemophilia
= X linked recessive, A is factor VIII, B is FIX
Clinical features:
- Spontaneous bleeding
- Haemarthrosis
- Soft tissue bleeds
Treatment:
- DDAVP
- Antifibrinolytic agents
SIckle cell disease
Acute complications:
- Vaso-occlusive crisis: hands and feet, chest syndrome, abdo pain
- Septicaemia
- Aplastic crisis
Chronic complications:
- Hyposplenism, renal disease
- Avascular necrosis
- Leg ulcers, osteomyelitis
Treatment:
- Penicillin from 6 months
- Hydroxycarbamide
- Bone marrow transplant
B thalassaemia major
= very severe anaemia at 1-2 years of age
Clinical features:
- Anaemia
- Short stature
- Enlarged liver and spleen 'extramedullary hemopoiesis’
- Thalassaemic faces: maxillary hypertrophy, abnormal dentition
Treatment:
- Transfusion
- Iron chelation therapy: desferrioxamine
