Med D - Haemotology Flashcards
(124 cards)
1
Q
What is blood made out of?
A
Blood is made of plasma (the liquid of the blood), which contains** red blood cells, white blood cells, platelets and clotting factors**, such as fibrinogen.
2
Q
Once the clotting factors are removed from the blood, what is left is called the serum. Serum contains:
A
- Glucose
- Electrolytes, such as sodium and potassium
- Proteins, such as immunoglobulins (antibodies) and hormones
3
Q
Where do blood cells develop?
A
in the bone marrow
4
Q
Where are bone marrow mostly found?
A
Bone marrow is mostly found in the pelvis, vertebrae, ribs and sternum.
5
Q
Pluripotent haematopoietic stem cells are )________________ cells that can transform into various blood cells
A
Pluripotent haematopoietic stem cells are undifferentiated cells that can transform into various blood cells
6
Q
Pluripotent haematopoietic stem cells are then split into?
A
- Myeloid stem cells
- Lymphoid stem cells
- Dendritic cells (via different intermediate stages)
7
Q
Myeloid stem cells split into?
A
- Megakaryocte
- Erythrocyte
- Myekoblast
8
Q
Myreloblasts split into?
A
- basophil
- neurtophile
- eosinophil
- monocyte
–>marcophage
9
Q
erthyrocyte differentiates into?
A
RBC
10
Q
Megakrtyocyte differentiates into?
A
platelets
11
Q
Lymphoid stem cells split into?
A
B cells
T cells
natural killer cells
12
Q
Red blood cells (RBC) develop from ____________, which originate from myeloid stem cells.
A
Red blood cells (RBC) develop from reticulocytes, which originate from myeloid stem cells.
13
Q
What are the retoculocytes?
A
Reticulocytes are immature red blood cells.
14
Q
B lymphocytes (B cells) mature in the bone marrow and differentiate into:
A
Plasma cells
Memory B cells
15
Q
Where do T cells mature
A
in the thymus gland
16
Q
T lymphocytes (T cells) mature in the thymus gland and differentiate into:
A
- CD4 cells (T helper cells)
- CD8 cells (cytotoxic T cells)
- Natural killer cells
17
Q
What is a blood film?
A
A blood film involves the manual examination of the blood using a microscope, looking for abnormal shapes, sizes and inclusions (contents) of the cells.
18
Q
Name some abnormal findings on a blood film?
A
Anisocytosis
Target cells
Heinz bodies
Howell-Jolly bodies
Reticulocytes
Schistocytes
Sideroblasts
Smudge cells
Spherocytes
19
Q
What is Anisocytosis
What can this been seen in?
A
Anisocytosis refers to a variation in the size of the red blood cells
These can be seen in myelodysplastic syndrome and many types of anaemia (e.g., iron deficiency, pernicious and autoimmune haemolytic anaemia).
20
Q
What are target cells
What do target cells suggest on blood film>
A
Target cells are red blood cells with a central pigmented area surrounded by a pale area, surrounded by a ring of thicker cytoplasm on the outside. They look like a bull’s eye target.
These are mostly seen in iron deficiency anaemia and post-splenectomy.
21
Q
What are Heinz bodies
WHat are they seen in
A
Heinz bodies are individual blobs (inclusions) seen inside red blood cells. These blobs are denatured (damaged) haemoglobin.
They are mostly seen in G6PD deficiency and alpha-thalassaemia.
22
Q
What are Howel-Jolly bodies
What are they seen in?
A
Howell-Jolly bodies are individual blobs of DNA material seen inside red blood cells. The spleen would Normally remove red blood cells with this DNA material inside.
They are seen in patients after a splenectomy or with a non-functioning spleen (e.g., caused by sickle cell anaemia). They are also seen in severe anaemia, where the body is regenerating red blood cells very fast.
23
Q
What are Reticulocytes seen in
A
haemolytic anaemia
24
Q
What are Schistocytes
A
Schistocytes are fragments of red blood cells. They indicate that red blood cells are being physically damaged during their journey through the circulation.
25
What are the sideroblasts?
What are they seen in?
Sideroblasts are immature red blood cells with a nucleus surrounded by iron blobs. Sideroblastic anaemia occurs when the bone marrow cannot incorporate iron into the haemoglobin molecules.
This is due to either a **genetic defect** or **myelodysplastic syndrome.**
26
______ ______ are ruptured white blood cells that occur while preparing the blood film when the cells are aged or fragile. They are particularly associated with _______ _____________ ______.
**Smudge cells** are ruptured white blood cells that occur while preparing the blood film when the cells are aged or fragile. They are particularly associated with **chronic lymphocytic leukaemia.**
27
What are Spherocytes
What are they seen in?
Spherocytes are sphere-shaped red blood cells without the bi-concave disk shape.
They can indicate **autoimmune haemolytic anaemia** or **hereditary spherocytosis**.
28
What is leukaemia?
Leukaemia is **cancer** of a particular line of **stem cells** in the **bone marrow,** causing unregulated production of a specific type of blood cell.
29
The types of leukaemia can be classified depending on how rapidly they progress (chronic is slow and acute is fast) and the cell line that is affected (myeloid or lymphoid) to make four main types:
* **Acute myeloid leukaemia** (rapidly progressing cancer of the myeloid cell line)
* **Acute lymphoblastic leukaemia** (rapidly progressing cancer of the lymphoid cell line)
* **Chronic myeloid leukaemia** (slowly progressing cancer of the myeloid cell line)
* **Chronic lymphocytic leukaemia** (slowly progressing cancer of the lymphoid cell line)
30
Most types of leukaemia occur in patients over ___ ___. The exception is _____ _________ ________, which most commonly affects children under ____ years.
Most types of leukaemia occur in patients over **60-70**. The exception is **acute lymphoblastic leukaemia**, which most commonly affects children under **five** years.
31
Which leukaemia is the most common leukaemia in children and is associated with Down syndrome
Acute lymphoblastic leukaemia
32
Which leukaemia is associated with warm haemolytic anaemia, Richter’s transformation and smudge cells
Chronic lymphocytic leukaemia
33
Which leukaemia has three phases, including a long chronic phase, and is associated with the Philadelphia chromosome
Chronic myeloid leukaemia
34
Which leukaemia may result in a transformation from a myeloproliferative disorder and is associated with Auer rods
Acute myeloid leukaemia
35
What is the patho of leukaemia?
A genetic mutation in one of the precursor cells in the bone marrow leads to excessive production of a single type of abnormal white blood cell.
The excessive production of a single type of cell can suppress the other cell lines, causing the underproduction of different cell types. This can result in **pancytopenia**, which is a combination of low red blood cells (**anaemia**), white blood cells (**leukopenia**) and platelets (**thrombocytopenia**).
36
The presentation of leukaemia is relatively **non-specific**. An urgent full blood count is required when leukaemia is a differential for a presentation. Potential presenting features include:
* Fatigue
* Fever
* Pallor due to anaemia
* **Petechiae** or bruising due to thrombocytopenia
* Abnormal bleeding
* Lymphadenopathy
* Hepatosplenomegaly
* Failure to thrive (children)
37
One key presenting feature of leukaemia is bleeding under the skin due to ________________
thrombocytopenia
38
Bleeding under the skin causes ________ _______ _________.
Bleeding under the skin causes **non-blanching lesions.**
39
Bleeding under the skin causes non-blanching lesions. These lesions are called different things based on the size of the lesions:
* **Petechiae** are less than 3 and caused by burst capillaries
* **Purpura** are 3 – 10mm
* **Ecchymosis** is larger than 1cm
40
The top differentials for a non-blanching rash caused by bleeding under the skin are:
* Leukaemia
* Meningococcal septicaemia
* Vasculitis
* Henoch-Schönlein purpura (HSP)
* Immune thrombocytopenic purpura (ITP)
* Thrombotic thrombocytopenic purpura (TTP)
* Traumatic or mechanical (e.g., severe vomiting)
* Non-accidental injury
41
The NICE guidelines on suspected cancer (2021) recommend a ______ ______ ________ within 48 hours for patients with suspected leukaemia. They recommend children or young people with ________ or ________________ are sent for immediate specialist assessment.
The NICE guidelines on suspected cancer (2021) recommend a **full blood count** within 48 hours for patients with suspected leukaemia. They recommend children or young people with **petechiae** or **hepatosplenomegaly** are sent for immediate specialist assessment.
42
Ix for leukaemia?
FBC
Blood Film
Lactate dehydrogenase (LDH)
Bone marrow biopsy
CT/PETscane
Lymphnode biopsy
Genetic tests
43
Bone marrow biopsy is usually taken from the _____ _____
Bone marrow biopsy is usually taken from the **iliac crest.**
44
What is the difference between bone marrow aspiratoin and trephine?
**Bone marrow aspiration** involves taking a liquid sample of cells from within the bone marrow. **Bone marrow trephine** involves taking a solid core sample of the bone marrow and provides a better assessment of the cells and structure.
45
What is Acute Lymphoblastic Leukaemia
Acute lymphoblastic leukaemia (ALL) affects one of the **lymphocyte precursor cells**, causing acute proliferation of a single type of lymphocyte, usually **B-lymphocytes**. Excessive accumulation of these cells replaces the other cell types in the bone marrow, leading to **pancytopenia**.
46
WHat is the presentation of Acute Lymphoblastic Leukaemia
ALL most often affects children under five but can also affect older adults. It is more common with **Down’s syndrome**. It can be associated with the **Philadelphia chromosome** (but this is more associated with chronic myeloid leukaemia).
47
What is Chronic Lymphocytic Leukaemia
Chronic lymphocytic leukaemia is where there is slow proliferation of a single type of well-differentiated lymphocyte, usually **B-lymphocytes**. It usually affects adults over 60 years of age. It is often asymptomatic but can present with infections, anaemia, bleeding and weight loss. It may cause **warm autoimmune haemolytic anaemia.**
48
What is richter's transformation?
Richter’s transformation refers to the rare transformation of CLL into **high-grade B-cell lymphoma**.
49
What are features of Chronic Lymphocytic Leukaemia
**Smear** or **smudge cells** are **ruptured white blood cells** that occur while preparing the blood film when the cells are aged or fragile. They are particularly associated with **chronic lymphocytic leukaemia. **
50
Chronic myeloid leukaemia has three phases:
Chronic phase
Accelerated phase
Blast phase
51
Explain the three phases of CML
The **chronic phase** is often asymptomatic, and patients are diagnosed after an incidental finding of a raised white cell count. This phase can last several years before progressing.
The **accelerated phase** occurs when the abnormal blast cells take up a high proportion (10-20%) of the bone marrow and blood cells. In the accelerated phase, patients are more symptomatic and develop **anaemia, thrombocytopenia and immunodeficiency**.
The **blast phase** follows the accelerated phase and involves an even higher proportion (over 20%) of blast cells in the blood. The blast phase has severe symptoms and **pancytopenia** and is often fatal
52
Features of CML
Chronic myeloid leukaemia is particularly associated with the **Philadelphia chromosome**. This refers to an **abnormal chromosome 22** caused by a **reciprocal translocation** (swap) of genetic material between a section of **chromosome 9** and **chromosome 22**. This translocation creates an abnormal gene sequence called **BCR-ABL1**, which codes for an abnormal **tyrosine kinase enzyme** that drives the proliferation of the abnormal cells.
53
Presentation of Acute Myeloid Leukaemia
It can present at any age but normally presents from middle age onwards. It can be the result of a **transformation** from a **myeloproliferative disorder**, such as **polycythaemia ruby ver**a or **myelofibrosis**.
54
What would blood film and bone marrow biopsy show in Acute Myeloid Leukaemia
A blood film and bone marrow biopsy will show a high proportion of **blast cells**. **Auer rods** in the cytoplasm of blast cells are a characteristic finding in AML.
55
Leukaemia is mainly treated with ____________ and _________ _________, depending on the type and individual features.
Leukaemia is mainly treated with **chemotherapy** and **targeted therapies**, depending on the type and individual features.
56
Examples of targeted therapies include (mainly used in CLL):
* Tyrosine kinase inhibitors (e.g., ibrutinib)
* Monoclonal antibodies (e.g., rituximab, which targets B-cells)
57
Chemotherapy comes with a long list of complications and adverse effects:
* Failure to treat cancer
* Stunted growth and development in children
* Infections due to immunosuppression
* Neurotoxicity
* Infertility
* Secondary malignancy
* Cardiotoxicity (heart damage)
* Tumour lysis syndrome
58
Tumour lysis syndrome results from chemicals released when cells are destroyed by chemotherapy, resulting in:
* High uric acid
* High potassium (hyperkalaemia)
* High phosphate
* Low calcium (as a result of high phosphate)
59
Very good ________ and _____ _____ before chemotherapy is required in patients at risk of tumour lysis syndrome.
Very good **hydration** and **urine output** before chemotherapy is required in patients at risk of tumour lysis syndrome.
60
What is lymphoma?
Lymphoma is a type of cancer affecting the **lymphocytes** inside the **lymphatic system**. Cancerous cells proliferate inside the lymph nodes, causing the lymph nodes to become abnormally large **(lymphadenopathy)**.
61
The many types of lymphoma fall into two categories:
* Hodgkin’s lymphoma (a specific disease)
* Non-Hodgkin’s lymphoma (which includes all other types)
62
What is the most common type of lymphoma?
Hodgkin’s lymphoma is the most common specific type of lymphoma. It has a **bimodal age** distribution with peaks around **20-25** and **80** years.
63
Risk factors for Hodgkin’s lymphoma include:
* HIV
* Epstein-Barr virus
* Autoimmune conditions, such as rheumatoid arthritis and sarcoidosis
* Family history
64
Non-Hodgkin’s lymphoma includes many types. A few notable ones are:
* **Diffuse large B cell lymphoma** typically presents as a rapidly growing painless mass in older patients
* **Burkitt lymphoma** is particularly associated with Epstein-Barr virus and HIV
* **MALT lymphoma** affects the mucosa-associated lymphoid tissue, usually around the stomach
65
Risk factors for non-Hodgkin’s lymphoma include:
* HIV
* Epstein-Barr virus
* Helicobacter pylori (H. pylori) infection is associated with MALT lymphoma
* Hepatitis B or C infection
* Exposure to pesticides
* Exposure to trichloroethylene (a chemical with a variety of industrial uses)
* Family history
66
Presentation of lymphoma?
Lymphadenopathy is the key presenting symptom. The enlarged lymph node or nodes might be in the neck, axilla or inguinal region. They are characteristically **non-tender** and feel **firm** or **rubbery**.
67
Patients with Hodgkin’s lymphoma may experience ______ _____ _______ after drinking ______.
Patients with Hodgkin’s lymphoma may experience **lymph node pain** after drinking **alcohol**.
68
B symptoms refer to systemic symptoms of lymphoma
What are they?
B symptoms refer to systemic symptoms of lymphoma:
69
Additional non-specific symptoms can include for lymphoma?
Fatigue
Itching
Cough
Shortness of breath
Abdominal pain
Recurrent infections
70
Ix for lymphoma?
* Lymph node biopsy: Reed-Sternberg cells for hodgkns lymphoma
* CT, MRI, and PET
71
The _________ _________ system is used for** Hodgkin’s** and **non-Hodgkin’s** lymphoma (replacing the older Ann Arbor system). It emphasises whether the affected nodes are above or below the diaphragm
The **Lugano classification** system is used for Hodgkin’s and non-Hodgkin’s lymphoma (replacing the older Ann Arbor system). It emphasises whether the affected nodes are above or below the diaphragm
72
What is a Lugana Classification system in simplified version?
* **Stage 1: **Confined to one node or group of nodes
* **Stage 2:** In more than one group of nodes but on the same side of the diaphragm (either above or below)
* **Stage 3:** Affects lymph nodes both above and below the diaphragm
* **Stage 4:** Widespread involvement, including non-lymphatic organs, such as the lungs or liver
73
The critical treatments for Hodgkin’s lymphoma are ____________ and ________ Treatment aims to cure the disease, and this is usually successful
The critical treatments for Hodgkin’s lymphoma are **chemotherapy** and **radiotherapy**. Treatment aims to cure the disease, and this is usually successful
74
What are the risks of chemo
infections, cognitive impairment, secondary cancers (e.g., leukaemia) and infertility.
75
Risks of Radiotherapy
tissue fibrosis, secondary cancers and infertility.
76
Management of non-Hodgkin’s lymphoma depends on the type and stage. It may involve:
* Watchful waiting
* Chemotherapy
* Monoclonal antibodies (e.g., rituximab, which targets B cells)
* Radiotherapy
* Stem cell transplantation
77
What is myeloma?
Myeloma is a type of cancer affecting the plasma cells in the bone marrow. Plasma cells are B lymphocytes that produce antibodies. Cancer in a specific type of plasma cell results in the production of large quantities of a specific **paraprotein** (or M protein), which is an abnormal antibody or part of an antibody.
78
Multiple myeloma is where ...
the myeloma affects multiple bone marrow areas in the body.
79
What is Monoclonal gammopathy of undetermined significance (MGUS)
involves the production of a specific paraprotein without other features of myeloma or cancer. Monoclonal refers to identical copies or clones originating from a single cell. MGUS is often an incidental finding in an otherwise healthy person. It has a small risk of progression to myeloma (about 1% per year).
80
What is Smouldering myeloma
involves abnormal plasma cells and paraproteins but no organ damage or symptoms. It has a greater risk of progression to myeloma (about 10% per year).
81
Pathophysiology of myeloma?
**Myeloma** is cancer of a single type of plasma cell, with a **genetic mutation** that causes them to rapidly and uncontrollably multiply. They produce a specific **paraprotein** (or **M protein**), which is an abnormal antibody (immunoglobulin) or part of an antibody (often the light chain). There is an abnormally high level of this paraprotein (paraproteinaemia).
82
The Bence Jones protein refers to ______ ______ ____ in the urine.
The Bence Jones protein refers to **free light chains** in the urine.
83
The CRAB mnemonic can be used to remember the four key features of myeloma:
C – Calcium (elevated)
R – Renal failure
A – Anaemia
B – Bone lesions and bone pain
84
What is the most common complication of myeloma
normocytic anaemia
85
Cause of Myeloma Bone Disease
**Myeloma bone disease** results from increased **osteoclast** activity and suppressed **osteoblast** activity. Osteoclasts absorb bone, and osteoblasts deposit bone. The metabolism of bone becomes imbalanced, with more bone being reabsorbed than constructed. It is caused by cytokines released from abnormal **plasma cells** and other nearby cells.
86
Common sites of myeloma bone disease are
the skull, spine, long bones and ribs.
87
WHat are osteolytic lesions?
abnormal bone metabolism is patchy, meaning that the bone becomes very thin in some areas while others remain relatively normal. These patches of thin bone are described as osteolytic lesions
88
Patients with myeloma often develop renal impairment, which can have various causes:
* Paraproteins deposited in the kidneys
* Hypercalcaemia affecting kidney function
* Dehydration
* Glomerulonephritis (inflammation around the glomerulus and nephron)
* Medications used to treat the condition
89
What is Hyperviscosity Syndrome
The normal plasma viscosity, or internal friction in blood flow, is between 1.3 and 1.7 times that of water. An oversimplified description is that blood is 1.3 to 1.7 times thicker than water. Plasma viscosity increases when more proteins are in the blood, such as the paraproteins found in myeloma.
90
Hyperviscosity syndrome is considered an emergency. It can cause many issues:
* Bleeding (e.g., nosebleeds and bleeding gums)
* Visual symptoms and eye changes (e.g., retinal haemorrhages)
* Neurological complications (e.g., stroke)
* Heart failure
91
RF for myeloma
Older age
Male
Black ethnic origin
Family history
Obesity
92
The presenting features that should raise suspicion of myeloma include:
* Persistent bone pain (e.g., spinal pain)
* Pathological fractures
* Unexplained fatigue
* Unexplained weight loss
* Fever of unknown origin
* Hypercalcaemia
* Anaemia
* Renal impairment
93
The information below is simplified from the NICE CKS (updated 2022) and guidelines (updated 2018) on myeloma.
Laboratory investigations include:
* FBC (anaemia or leukopenia in myeloma)
* Calcium (raised in myeloma)
* ESR (increased in myeloma)
* Plasma viscosity (increased in myeloma)
* U&E (for renal impairment)
* Serum protein electrophoresis (to detect paraproteinaemia)
* Serum-free light-chain assay (to detect abnormally abundant light chains)
* Urine protein electrophoresis (to detect the Bence-Jones protein)
**Bone marrow biopsy** is required to confirm the diagnosis and perform cytogenetic testing.
Imaging is used to assess for bone lesions. The order of preference is:
* Whole-body MRI
* Whole-body low-dose CT
* Skeletal survey (x-ray images of the entire skeleton)
94
Typical x-ray changes seen in patients with myeloma include:
* Well-defined lytic lesions (described as looking “punched-out”)
* Diffuse osteopenia
* Abnormal fractures
**Raindrop skull** (sometimes called pepper pot skull) refers to multiple lytic lesions seen in the skull on an x-ray.
95
Meyloma Management
Treatment usually involves a combination of chemotherapy, which may include:
Bortezomib (a proteasome inhibitor)
Thalidomide
Dexamethasone
96
Myeloma
High-dose chemotherapy followed by a stem cell transplant is an option for fitter patients and may achieve a more extended period of remission. Stem cell transplantation can be:
* Autologous (using the person’s own stem cells)
* Allogeneic (using stem cells from a healthy donor)
97
Management of myeloma bone disease may involve:
* **Bisphosphonates** to suppress osteoclast activity
* **Radiotherapy** for bone lesions can improve bone pain
* **Orthopaedic surgery** to stabilise bones (e.g., by inserting a prophylactic intramedullary rod) or treat fractures
* **Cement augmentation** (injecting cement into vertebral fractures or lesions) to improve spine stability and pain
98
There are many complications of myeloma and its treatment, including:
ere are many complications of myeloma and its treatment, including:
Infection
Bone pain
Fractures
Renal failure
Anaemia
Hypercalcaemia
Peripheral neuropathy
Spinal cord compression
Hyperviscosity syndrome
Venous thromboembolism
99
What are Myeloproliferative Disorders
Myeloproliferative disorders involve the uncontrolled proliferation of a single type of stem cell. They are considered a form of cancer occurring in the bone marrow, although they tend to develop and progress slowly. They have the potential to transform into **acute myeloid leukaemia.**
100
The myeloproliferative disorders to remember are:
Primary myelofibrosis
Polycythaemia vera
Essential thrombocythaemia
101
What are the blood findings for Primary Myelofibrosis
Low haemoglobin
High or low white cell count
High or low platelet count
102
103
blood finding of Polycythaemia Vera
High haemoglobin
104
Blood finding of Essential Thrombocythaemia
High platelet count
105
Myeloproliferative disorders: conditon associated with mutations in certain genes;
JAK2
MPL
CALR
TOM TIP: The mutation to remember is JAK2. Treatment might involve JAK2 inhibitors, such as ruxolitinib.
106
____________ can result from primary myelofibrosis, polycythaemia vera or essential thrombocythaemia.
**Myelofibrosis** can result from primary myelofibrosis, polycythaemia vera or essential thrombocythaemia.
107
What is Myelofibrosis
Myelofibrosis is where the proliferation of a single cell line leads to bone marrow fibrosis, where bone marrow is replaced by scar tissue. This is in response to cytokines released from the proliferating cells. One particular cytokine is fibroblast growth factor. Fibrosis affects the production of blood cells and can lead to low haemoglobin (anaemia), low white blood cells (leukopenia) and low platelets (thrombocytopenia).
108
A blood film in myelofibrosis can show:
Teardrop-shaped red blood cells
Anisocytosis (varying sizes of red blood cells)
Blasts (immature red and white cells)
109
Initially, myeloproliferative disorders may be asymptomatic.
They can present with non-specific symptoms:
Initially, myeloproliferative disorders may be asymptomatic.
They can present with non-specific symptoms:
110
Myeloprofilerative Disorders
There may be signs and symptoms of underlying complications:
* Anaemia (tiredness, shortness of breath and dizziness)
* Splenomegaly (abdominal pain)
* Portal hypertension (ascites, varices and abdominal pain)
* Low platelets (bleeding and petechiae)
* Raised haemoglobin (itching, headaches and a red face)
* Low white blood cells (infections)
* Gout is a complication of polycythaemia
111
________ is a common complication of polycythaemia and thrombocythaemia, leading to myocardial infarction, stroke or venous thromboembolism (e.g., DVT and PE).
**Thrombosis **is a common complication of polycythaemia and thrombocythaemia, leading to myocardial infarction, stroke or venous thromboembolism (e.g., DVT and PE).
112
Clinical signs of polycythaemia include:
* Ruddy complexion (red face)
* Conjunctival plethora (the opposite of conjunctival pallor)
* Splenomegaly
* Hypertension
113
Diagnosis of myeloprofliferative disorders
**Bone marrow biopsy** is required to confirm the diagnosis. Bone marrow aspiration may be “dry” with myelofibrosis, as the bone marrow has turned to scar tissue.
Testing for the** JAK2, MPL and CALR** genes can help with diagnosis and management.
114
Management of primary myelofibrosis may involve:
* **No active treatment** for mild disease with minimal symptoms
* **Supportive management** of complications, such as anaemia, splenomegaly and portal hypertension
* **Chemotherapy **(e.g., hydroxycarbamide) to help control the disease
* **Targeted therapies**, such as JAK2 inhibitors (ruxolitinib)
* **Allogeneic stem cell** transplantation (risky but potentially curative)
115
Management of polycythaemia vera may involve:
* Venesection to keep the haemoglobin in the normal range
* Aspirin to reduce the risk of thrombus formation
* Chemotherapy (typically hydroxycarbamide) to help control the disease
116
Management of essential thrombocythaemia may involve:
* Aspirin to reduce the risk of thrombus formation
* Chemotherapy (typically hydroxycarbamide) to help control the disease
* Anagrelide is a specialist platelet-lowering agent
117
WHat is myelodysplastic syndrome
Myelodysplastic syndrome is a form of cancer caused by a mutation in the myeloid cells in the bone marrow, resulting in inadequate production of blood cells (described as ineffective haematopoiesis
118
There are various types of myelodysplastic syndrome. It has the potential to transform into ______ _______ __________
There are various types of myelodysplastic syndrome. It has the potential to transform into **acute myeloid leukaemia**
119
Myelodysplastic syndrome causes low levels of blood components that originate from the myeloid cell line:
* Anaemia (low haemoglobin)
* Neutropenia (low neutrophil count)
* Thrombocytopenia (low platelets)
120
____________ is a combination of low red blood cells, white blood cells and platelets.
**Pancytopenia** is a combination of low red blood cells, white blood cells and platelets.
121
WHat are the risk factors of Myelodysplastic syndrome
Risk factors are older age and previous chemotherapy or radiotherapy.
121
Presentation of Myelodysplastic syndrome
Patients may be asymptomatic. It may be diagnosed after incidental findings on a full blood count.
They may present with symptoms of:
* Anaemia (fatigue, pallor or shortness of breath)
* Neutropenia (frequent or severe infections)
* Thrombocytopenia (bleeding and purpura)
122
Myelodysplastic syndrome Diagnosis
**Full blood count **will be abnormal. There may be blasts on the blood film.
**Bone marrow biopsy** is required to confirm the diagnosis.
123
Management of Myelodysplastic syndrome
Depending on the symptoms, risk of progression and overall prognosis, the treatment options are:
* Watchful waiting
* Supportive treatment (e.g., blood or platelet transfusions)
* Erythropoietin (stimulates red blood cell production)
* Granulocyte colony-stimulating factor (stimulates neutrophil production)
* Chemotherapy and targeted therapies (e.g., lenalidomide)
* Allogenic stem cell transplantation (risky but potentially curative)
