Introduction to haematology Flashcards
diagnosis of this man?
Polycythaemia aka erythrocythaemia
what is polycythaema vera?
primary polycythaemia
Type of blood cancer. Spontaneous overproliferation of RBC’s in the bone marrow due to mutations in haematopoietic stem cells or erythyroid progenitor cells. Persistent raised haematocrit (males >0.52, females >0.48)
- High haematocrit or raised red cell mass (>25% above predicted)
- Linked with JAK2 mutations (rare to not be +ve)
Chronic myeloproliferative disorder characterised by an increase in morphologically normal RBC’s, WBC’s and platelets (panmyelosis). Erythrocytes get smaller and smaller as iron stores run out.
- Mainly >60 years
- Slight male predominance
- Life expectancy generally favourable, indolent 10-20 years
- 10-30% of patients develop myelofibrosis and marrow failure. Acute leukaemia occurs in 3%.
- Erythrocytosis proceeds independent of erythropoietin.
what is secondary polycythemia?
causes
Increased oxygen demand/ red cell stimulus due to physiological changes
causes of secondary polycythaemia
- Lung disease
- Kidney disorders
- Smoking
- Drinking large amounts of alcohol
- High blood pressure
- High altitude
- Diuretics
- Sleep apnoea
- Eposis (erythropoietin)
clinical features of polycythaemia
- Headaches
- Dyspnoea
- Visual disturbances
- Night sweats
- Aquagenic pruritis (classically into a bath)
- Gout
- Plethoric appearance (red face)
- Splenomegaly (75%)
- Thrombosis- arterial or venous increased risk of stroke
- Hypertension
treatment of polycythaemia
- Aspirin 75mg daily (unless contraindicated or on another agent)
-
Venesection (blood letting) to maintain haematocrit below 0.45
- Creates an iron deficiency which limits erythropoiesis
- Can start cytotoxic treatment (hydroxycarbamide) if blood counts remain uncontrolled then splenomegaly and high symptom burden
What is the diagnosis?
Chronic myeloid leukaemia
What is CML?
what confirms diagnosis?
pathology?
Chronic myeloid leukaemia
- ~15% of all leukamias
- Median onset age of 50
- Life expectancy near normal in chronic cases when using tyrosine kinase inhibitors such as imatinib, nilotinib, dasatinib etc.
- BCR-ABL translocation confirms diagnosis
Pathology
- Reciprocal translocation in long arm of chromosome 22 and 9.
- BCR-ABL increases tyrosine kinase activity, causes myeloid cells to rapidly proliferate and produce many immature myeloid cells
clinical fweatures of CML
Clinical features
- Fatigue, weight loss, early satiety, night sweats
- Splenomegaly in 75% sometimes hepatomegaly
- Symptoms relating to anaemia
- Bleeding, bruising due to platelet dysfunction
- Gout
- Rare to have “lumps and bumps”
Treatment of CML
First line imatinib (unless high risk- e.g., other genetic changes present)
Aiming initially for normalisation of blood counts
Then cytogenic response
BCR-ABL <10% at 3 months
BCR-ABL < 1% at 6 months
BCR-ABL < 0.1% at 12 months
Measured in peripheral blood tests
Chronic lymphocytic leukaemia
Symptoms of CLL
- Lymphadenopathy (lumps and bumps)
- Splenomegaly/ hepatomegaly
- Bone marrow failure
- Recurrent infection- may need prophylaxis
- Weight loss, sweats, fatigue
- Autoimmune complications- ITP, AIHA (treat these rather than CLL itself in most cases)
thrombocythaemia
cause of thrombocythaemia
Primary cause-
- Spontaneous overproliferation of platelets in the bone marrow due to mutations in megakaryocytes.
- Cancerous
- Linked with JAK2 mutations
Secondary cause-
Increased platelet production due to physiological changes
- Infection
- Post surgery
- Post splenectomy
- Other cancers
- Trauma and blood loss
- Chronic inflammation
- Iron deficiency
what is essential thrombocythaemia
Myeloproliferatove disorder (like Polycythaemia vera)
Also linked to JAK2 + other mutations (CALR/ MPL)
Up to 50% asymptomatic
