Haematology past paper questions Flashcards
She received bridging therapy with low molecular weight heparin (LMWH) until her INR was > 2 for 24 hours. For the past week she has been taking 4mg of warfarin.
Her target INR is 2.5. Her INR has been checked today and is 1.3.
What is the most appropriate management?
Continue 4mg of warfarin and start low molecular weight heparin
Increase dose of warfarin to 6mg and start low molecular weight heparin
Increase dose of warfarin to 6mg
Start low molecular weight heparin and stop warfarin
Re-load the patient with 5mg or 10mg Warfarin (as per local protocol)
Increase dose of warfarin to 6mg and start low molecular weight heparin
As her INR is < 2 she needs immediate anticoagulation with rapid acting low molecular weight heparin. Her INR should be carefully monitored and the LMWH discontinued when has adequate anticoagulation (INR>2)
A 34 year old female with a history of Beta-thalessemia major presents to her general practitioner. She has noted that her periods have stopped,she has leg swelling and shortness of breath. She has also been recently diagnosed with diabetes mellitus and hypothyroidism. Examination is unremarkable.
Given the likely diagnosis, what is the most appropriate treatment?
Blood transfusion
Desferrioxamine
Levothyroxine
Venesection
Ferrous Sulphate
Desferrioxamine
This patient has features of pituitary failure and heart failure. This is secondary due to deposition of excess iron from her repeated blood transfusions. Mortality for iron overload may be treated by chelating excess iron which is how desferrioxamine works
A 65-year-old man attends the emergency department with a 6-hour history of a severe generalised headache and blurred vision. He has had similar headaches on and off for the past few months. He reports no photophobia or neck stiffness. He has a past medical history of Waldenström macroglobulinaemia (WM). On examination, his blood pressure is 170/107 mmHg and he is apyrexial. Fundoscopy reveals bilateral papilloedema and widespread fundal haemorrhages.
He has a CT head, which shows no evidence of any intracranial masses or bleeds.
Which of the following is the most likely diagnosis?
Subarachnoid haemorrhage
Hyperviscosity syndrome
Tension headache
Idiopathic intracranial hypertension
Hyperviscosity syndrome
Hyperviscosity syndrome is a condition characterised by a high plasma viscosity. WM is the most common cause, although it may also be associated with polycythaemia, leukaemia, paraneoplastic syndromes and connective tissue disorders. Hyperviscosity syndrome typically presents with headache, blurred vision, hypertension, heart failure, dilutional anaemia/thrombocytopenia, ischaemic stroke and venous thromboembolism. The presence of features of hyperviscosity (headache, blurred vision, and papilloedema) with a past medical history of WM makes hyperviscosity syndrome the most likely diagnosis.
A 2 year old boy is brought to the Accident and Emergency department by his parents in pain. A couple of hours ago, whilst out for a walk with his parents, he began crying excessively saying “it hurts!”. It is a particularly cold day outside. There was no history of trauma.
He was diagnosed with sickle cell disease at birth. He has otherwise been well recently, as has everyone else in his household.
Examination reveals no abnormalities. His observations are stable.
Investigations show that he has a haemoglobin (Hb of 90g/L), with measurements 3 months ago being recorded as 88g/L and 6 months ago as 93g/L.
What type of sickle cell “crisis” is this child most likely experiencing?
Acute chest syndrome
Vaso-occlusive crisis
Aplastic crisis
Sequestration crisis
Acute haemolytic anaemia
Vaso-occlusive crisis
This is correct. The acute onset of the pain and with no abnormalities on examination and no significant drop in haemoglobin make a vaso-occlusive or “painful” crisis the most likely explanation. Common triggers include the cold (as in this scenario), dehydration, infection and hypoxia. Vaso-occlusive crises may present with pain anywhere in the body and in toddlers under 3 years, hands and feet are commonly affected. Vaso-occlusive crises are caused by micro-occlusion of blood vessels by sickled red blood cells
Mechanism of hyposplenism in SS
In addition, sickle cells commonly sequester in the spleen and undergo phagocytosis by the reticular endothelial system leading to extravascular haemolysis. Commonly this leads to splenic congestion and splenomegaly. The spleen is necessary for phagocytosis of encapsulated bacteria. Consequently, due to a compromised spleen, there is reduced immune function and individuals with sickle cell disease are prone to bacteraemia.
Most common acute presentation in SC
Painful vaso occlusive crises are the most common acute presentation of sickle cell anaemia, caused primarily by microvascular obstruction due to cellular sickling, which may be triggered by local hypoxia (e.g. in cold weather).
other presentations of sickle cell
- vaso-occlusive crises
- acute chest sydnrome
- aplastic crises
- sequestration crises
Vaso-occlusive crisis
This is correct. The acute onset of the pain and with no abnormalities on examination and no significant drop in haemoglobin make a vaso-occlusive or “painful” crisis the most likely explanation. Common triggers include the cold (as in this scenario), dehydration, infection and hypoxia. Vaso-occlusive crises may present with pain anywhere in the body and in toddlers under 3 years, hands and feet are commonly affected. Vaso-occlusive crises are caused by micro-occlusion of blood vessels by sickled red blood cells
Aplastic crisis
Aplastic crisis causes a sudden reduction in marrow production and so a drop in haemoglobin and red blood cell production. It would also not present with acute pain. Furthermore, it is usually caused by parvovirus B19 infection, and there is no indication that the child or any of his close contacts has been unwell recently
Sequestration crisis
Sequestration crisis presents with a sudden severe anaemia and signs of shock. Sequestration crisis occurs due to pooling of blood in the spleen as the spleen atrophies
Acute chest crises features
In contrast, acute chest crises are the most dangerous acute presentation (3% mortality; cause of 25% of sickle cell related deaths). The cause is often unknown (may be infectious), but patients present with tachypnoea, wheeze, and cough, with hypoxia and pulmonary infiltrates.
Management of sickle cell crisis
Conservative management involves high flow oxygen, IV fluids and analgesia. Top-up transfusions may be required in severe cases.
A 5-year-old boy is admitted to the paediatric haematology ward for treatment of acute lymphoblastic leukaemia (ALL). He is due to receive chemotherapy. Which of the following is a good prognostic factor in ALL?
Male gender
Increasing age
Slower response to chemotherapy
High white cell count
Hyperdiploid blast cells
Hyperdiploid blast cells
Hyperdiploidy (the presence of extra chromosomes in blast cells compared to the normal 46 in somatic cells) is associated with a better prognosis.
A 27-year-old man presents to his general practitioner with a 4-month history of diarrhoea and weight loss. A vesicular, itchy rash is noted over his buttocks. He has no past medical history.
He has a full blood count showing:
Haemoglobin (Hb) 87 g/L (130–170 g/L)
Mean cell volume (MCV) 73 fL (80–96 fL)
White cell count 9 × 109/L (3.0–10.0 × 109/L)
Platelets 345 × 109/L (150–400 × 109/L)
A blood film is performed, which shows Howell–Jolly bodies and pencil cells.
Which of the following is the most likely mechanism of these laboratory findings?
Functional hyposplenism
Anaemia of chronic disease
Previous splenectomy
Chronic lymphocytic leukaemia (CLL)
Acute myeloblastic leukaemia (AML)
Functional hyposplenism
This patient’s most likely diagnosis is coeliac disease. He has a long history of diarrhoea and weight loss, which are typical symptoms of coeliac disease. He has a vesicular rash overlying the buttocks, which is likely dermatitis herpetiformis, an extra-articular feature of coeliac disease. The blood film shows pencil cells (iron deficiency anaemia secondary to coeliac disease) and Howell–Jolly bodies.
Howell–Jolly bodies are remnants of the erythrocyte nuclei that are contained within the erythrocyte. The presence of Howell–Jolly bodies on the blood film indicates functional hyposplenism, which is associated with coeliac disease.
A 24-year-old presents to the emergency department with severe haemarthrosis. He has a background of haemophilia A, diagnosed shortly after birth. On examination, his chest is clear, and his observations are as follows:
Heart rate: 110 beats per minute
Blood pressure: 105/87 mmHg
Respiratory rate: 12 breaths per minute
SpO2: 100% on room air
What is the most appropriate treatment?
Fresh frozen plasma (FFP)
Desmopressin
Recombinant factor VIII
Corticosteroids
Vitamin K
Recombinant factor VIII
Haemophilia A affects factor VIII levels, and in major or life-threatening bleeds, recombinant factor VIII is the most appropriate treatment.
A 72 year old male is admitted to a general medical ward with sepsis secondary to a chest infection. He subsequently develops epistaxis, haemoptysis, melaena and bleeding from his cannula site. His observations are documented in the table below. On examination he is drowsy but responds to voice. There are large bruises over the sites of previous venepuncture attempts.
Vital Sign Result
Temperature 38.2 degrees
Heart rate 112 bpm
Blood pressure 92/68 mm/Hg
Respiratory Rate 22 breaths per minute
Oxygen Saturations 94% on 4L via nasal cannula
Which of the following investigation findings is consistent with the most likely diagnosis?
Decreased partial thromboplastin time (PTT)
Thrombocytosis
Raised fibrinogen
Raised D-dimer
Decreased prothrombin time (PT)
Raised D-dimer
This is a case of disseminated intravascular coagulation (DIC). DIC occurs when the balance between the formation of new clots (coagulation) and the break down of clots (fibrinolysis) is tipped in favour of coagulation. It causes widespread clot formation and tissue ischaemia whilst also consuming platelets and clotting factors, thereby leading to excess bleeding. Conditions such as sepsis can release procoagulants (such as tissue factor) which trigger this process. D-dimer is a fibrin degradation product produced when fibrin clots are broken down. It is therefore raised in DIC due to increased clot formation and degradation
A 60 year old male patient is undergoing a pre-operative review prior to an elective hernia repair. A routine full blood count reveals a haemoglobin of 19.2 g/dL and platelet count of 490 x 10^9/L. The patient has no past medical history of note and is asymptomatic at present. The patient is a non-smoker and drinks alcohol socially.
On physical examination there is mild splenomegaly and the patient is noted to have a red complexion.
Which of the following investigation findings are consistent with the most likely diagnosis?
Raised red cell mass, low serum erythropoetin, JAK2 mutation present
Normal red cell mass, decreased plasma volume, normal serum erythropoietin
Increased red cell mass, raised serum erythropoetin, JAK2 mutation present
Increased red cell mass, raised serum erythropoetin, JAK2 mutation absent
Increased red cell mass, low serum erythropoetin, JAK2 mutation absent
Raised red cell mass, low serum erythropoetin, JAK2 mutation present
This is the correct answer. The patient presents with clinical features consistent with polycythaemia rubra vera (PRV), a clonal haematopoeitic disorder charactersed by erythrocytosis. There is no evidence to suggest a secondary cause of polycythaemia (such as COPD). In PRV erythropoetin will be appropriately low (to prevent further erythrocytosis). PRV is strongly associated with the JAK2 V617F mutation
A 26 year old Mediterranean man presents to his GP with recurrent fevers following a trip to Northern India. He is diagnosed with benign Plasmodium vivax malaria and started on oral chloroquine and primaquine. He had not taken malaria prophylaxis.
A few days later he presents to the emergency department with rapidly evolving jaundice and breathlessness.
What is the single most likely underlying diagnosis?
G6PD deficiency
Familial Mediterranean fever
Gilbert’s syndrome
Plasmodium falciparum malaria
Pneumonia
G6PD deficiency
This is the correct answer. Patients with G6PD tend to have ancestry from mediterranean basin and present with episodic haemolytic anaemia following exposure to oxidative stressors, which include anti-malarials (in particular primaquine)
A 25-year-old man has presented to his general practitioner after noticing a lump in his neck a few days ago. He is not sure how long this has been there. It is not currently painful but he reports it became painful when he went out for some alcoholic drinks with his friends last Saturday. He has no other symptoms. On examination, a 2-cm rubbery, nontender lymph node is noted in the right anterior cervical chain. There is no evidence of any other lymphadenopathy.
Which of the following is the most likely diagnosis?
Non-Hodgkin’s lymphoma
Hodgkin’s lymphoma
Reactive lymphadenopathy
Infectious mononucleosis
Metastatic lymph nodes
Hodgkin’s lymphoma
Lymphomas typically present with a rubbery, nontender lymph node in the neck, with or without B symptoms. It is impossible to fully differentiate Hodgkin’s lymphoma and Non-Hodgkin’s lymphoma clinically, although there are certain factors in this case that make Hodgkin’s lymphoma more likely. Firstly, although Non-Hodgkin’s lymphoma can present at any age, Hodgkin’s lymphoma would typically present in a young men. Secondly, this patient experienced pain in his enlarged lymph node when he was drinking alcohol; this is a typical feature of Hodgkin’s lymphoma.
A 13-year-old girl of Middle-Eastern origin is admitted with jaundice and shortness of breath on exertion. These symptoms have started over the course of the last day. She also complains of dark urine and denies any other symptoms. The patient has a past medical history of gallstones. No drug history or travel history is stated.
On examination conjunctival pallor and jaundice are noted. She also has henna decorating both of her hands.
Blood results show:
Haemoglobin 85 g/dL (120-150) Bilirubin: 30 mcmol/L (20-20) Coomb’s Test: Negative Blood film: Heinz bodies
What is the underlying pathology giving rise to this presentation?
G6PD haemolytic anaemia
Sickle cell anaemia
Iron deficiency anaemia
Autoimmune haemolytic anaemia
Infection induced haemolytic anaemia
G6PD haemolytic anaemia
This patient presents with evidence of haemolysis. The signs and symptoms of haemolysis include shortness of breath on exertion, pallor (anaemia), jaundice (bilirubinaemia) and dark urine (haemoglobinuria). Given her ethnic origin and the fact that she has had henna tattooing which can trigger haemolytic crises in patients with G6PD, this is the most likely answer
Glucose-6-phosphate deficiency (G6PD) features
G6PD is an X-linked recessive red-cell enzyme disorder which may present in the neonatal period with jaundice, or later in life with episodic intravascular haemolysis following exposure to oxidative stressors.
Triggers of G6PD
* Intercurrent illness or infection (often forgotten)
* Fava beans: the disease was historically known as favism
* Henna
* Medications: primaquine, sulfa-drugs, nitrofurantoin, dapsone, and NSAIDs/Aspirin
Investigations of G6PD
The blood film typically shows Heinz bodies and bite cells, and the diagnostic test is a G6PD enzyme assay.
Management of G6PD
Treatment involves avoidance of precipitants, and some patients may rarely require transfusions.
Key investigation in autoimmune haemolytic anaemia
To elucidate the aetiology of the haemolytic anaemia, the direct Coombs test may be used. It is a test for autoimmune haemolytic anaemia (AIHA).
Patients with AIHA have antibodies directed against cell surface markers on the red blood cell. The Coombs test uses antibodies against these autoantibodies to cross link and agglutinate the red cells.
Two types of Coombs-positive haemolytic anaemia
Two major groups of Coombs-positive AIHA are known: - Warm
- Cold autoimmune haemolytic anaemia.
Warm autoimmune haemolytic anaemia (AIHA) pathophysiology
Warm AIHA is an IgG mediated extravascular haemolytic disease in which the spleen tags cells for splenic phagocytosis
Causes of warm AIHA
* Idiopathic
* Lymphoproliferative neoplasms (CLL and lymphoma)
* Drugs including methyldopa
* SLE
Cold autoimmune haemolytic anaemia (AIHA) pathophysiology
Cold AIHA is an IgM-mediated haemolytic disease in which IgM fixes complement causing direct intravascular haemolysis (also known as cold agglutinins)
Causes of the cold AIHA:
Idiopathic
Post-infectious haemolytic anaemias: occurring 2-3 weeks after infection (examples include EBV and mycoplasma)
Why cold
The disease is termed “cold” because the antibodies are active and cause hemolysis at cold temperatures
can cause clinical symptoms related to RBC agglutination in cooler parts of the body and hemolytic anemia.
Coombs-negative haemolytic anaemia
Acquired haemolytic anaemias that are Coombs negative are a large group of diverse haemolytic disorders.
Microangiopathic haemolytic anaemia
Paroxysmal nocturnal haemoglobinuria
Physical lysis of red cells e.g. malaria
Haemolytic uraemic syndrome (E. coli 0157:H7)
Infectious causes DIC (such as fulminant meningococcemia)
A 28 year old man with a known diagnosis of sickle cell anaemia presents to his GP for review. He complains that, over the past 12 months, he has had an increased burden of minor infections, particularlly upper respiratory tract infections (URTI). He is currently well, his examination is normal and he is taking only hydroxyurea prophylaxis. The GP orders blood tests for routine monitoring.
A blood film is performed which shows a small, single, peripherally-located, rounded inclusion in 50-60% of the erythrocytes.
What is the single most likely underlying diagnosis?
Acute bacterial infection
Functional hyposplenism
Babesiosis
Acute haemolysis
Acute leukaemia
Functional hyposplenism
This therect answer. The question is describing Howell Jolly bodies, which are nuclear remnants normally removed by the spleen – thus their presence is indicative of hyposplenism. Functional hyposplenism caused by splenic autoinfarction is common in sickle cell anaemia. As an additional clue, this patient is also suffering from recurrent URTIs which may be suggestive of underlying immune compromise
A 35-year-old woman with a diagnosis of Hodgkin’s lymphoma is seen in the haematology clinic. On examination, she has cervical and femoral lymphadenopathy. There is no hepatosplenomegaly and she reports no fever, night sweats, weight loss, abdominal pain or bone pain. She has previously had a chest X-ray showing evidence of mediastinal lymphadenopathy. A positron emission tomography–computed tomography (PET-CT) scan of the thorax, abdomen and pelvis does not reveal any more areas of disease.
Her most recent blood tests are shown below:
Haemoglobin (Hb) 130 g/L (115–155 g/L)
White cell count 7.0 × 109/L (3.0–10.0 × 109/L)
Platelets 305 × 109/L (150–400 × 109/L)
Which of the following best describes the Ann Arbor stage of this patient’s Hodgkin’s lymphoma?
Stage IIA
Stage IVB
Stage IIIB
Stage IVA
Stage IIIA
Stage IIIA
Ann Arbor staging is used to classify the extent of disease in Hodgkin’s lymphoma. This patient has evidence of cervical, mediastinal and femoral lymphadenopathy. This means she can be classified as having at least stage III lymphoma – she has at least one group of lymph nodes affected above the diaphragm and at least one group below. This patient does not have evidence of stage IV disease as there is no evidence of hepatomegaly, bone marrow involvement (no bone pain, no cytopenias) or other solid organ involvement. As she has no B symptoms, she has a stage IIIA lymphoma, not stage IIIB.
Ann Arbor staging
Staging
Stage I: involvement of a single nodal group.
Stage II: involvement of 2 or more nodal groups, on the same side of the diaphragm.
Stage III: involvement of nodal groups on both sides of the diaphragm.
Stage IV: disseminated disease with involvement of extra-lymphatic organs (e.g. the bones or lung).
Additional staging variables
(A) if the patient is asymptomatic or (B) if the patient presents with B symptoms (fever, night sweats, or weight loss).
X if there is bulky nodal disease (>10 cm or >1/3 of the intra-thoracic diameter).
(S) if there is splenic involvement.
(E) if there is extra-nodal disease.
A 24 year old lady comes into the GP surgery requesting testing for a genetically inherited disease. Her female cousin has been diagnosed with the disease, her father is known to be a carrier but neither she nor her brother is affected.
What is the pattern of inheritance ?
X linked Recessive
Complex (multifactorial) Inheritance
X linked dominant
Autosomal Dominant
Autosomal Recessive
Autosomal Recessive
This means that the individual affected has to have 2 copies of the mutated gene. If an individual has one copy of the mutated gene they will not be affected but are a carrier and can pass on the mutated gene to their children
Why not X linked Recessive?
The father cannot be a carrier in an X-linked condition
A 65 year old man present to the GP with ongoing headaches and dizzy spells and new onset tinnitus. He describes being very itchy, particularly after he has a hot bath.
On examination, he has facial plethora and splenomegaly.
Based on his history and examination findings, what is the most likely diagnosis?
Chronic myeloid leukaemia (CML)
Haemochromatosis
Multiple myeloma
Autoimmune haemolytic anaemia (AIHA)
Polcythaemia rubra vera
Polcythaemia rubra vera
This is correct. The headaches, dizziness and tinnitus are all secondary to the increased viscosity secondary to the proliferation of red blood cells. Itching after a hot bath is also classically associated with polycythaemia vera. Investigations to confirm this diagnosis should include haemoglobin and red cell count which will be raised in polycythaemia rubra vera. Over 95% of people with polycythaemia have a mutation in the JAK2 gene
A 10 year old boy presents to a haematology clinic with weakness, fatigue and jaundice after consuming large amounts of fava beans. There is evidence of intravascular haemolysis caused by glucose-6-phosphate dehydrogenase deficiency.
Which of the following modes of inheritance is likely to cause this form of haemolytic anaemia?
Autosomal recessive
Autosomal dominant
X-linked recessive
Codominance
X-linked dominant
X-linked recessive
This is the correct answer. Glucose-6-phosphate dehydrogenase is a necessary enzyme required for the generation of reduced glutathione, which protects the red cell from oxidative stress. Lack of this crucial enzyme can lead to haemolytic anaemia. The inheritance of glucose-6-phosphate dehydrogenase deficiency is X-linked recessive and manifests mainly in males
A 70 year old man is receiving a blood transfusion for chronic anaemia. Around half an hour into the transfusion he develops dyspnoea and a cough. A chest x-ray is ordered which shows evidence of a ‘white out’ on his chest xray. There is limited response to IV diuretics.
What blood transfusion reaction is most likely to be occurring in this patient?
Acute haemolytic reaction
Anaphylaxis
Transfusion-related acute lung injury (TRALI)
Fluid overload
Bacterial contamination
Transfusion-related acute lung injury (TRALI)
This is correct. TRALI causes respiratory symptoms such as dyspnoea and cough and causes a “white out” on a chest x-ray, as described above. It causes acute respiratory distress syndrome (ARDS) and is usually due to anti-leucocyte antibodies in the donor plasma
13-year-old boy presents to the emergency department with fatigue and shortness of breath. He recently had an episode of tonsillitis, which was treated with a course of phenoxymethylpenicillin. His past medical history includes neonatal jaundice, which resolved without treatment. Physical examination shows no abnormalities.
His blood tests are shown below:
Haemoglobin (Hb) 56 g/L (130–170 g/L)
Mean cell volume (MCV) 90 fL (80–96 fL)
Reticulocytes 112 × 109/L (25–100 × 109/L)
Lactate dehydrogenase (LDH) 300 IU/L (70–250 IU/L)
Bilirubin 35 mmol/L (<17 mmol/L)
He also has a blood film that shows Heinz bodies and bite cells.
Which of the following is the most likely cause of this patient’s anaemia?
Parvovirus B19
Phenoxymethylpenicillin
Fava beans
Biliary atresia
Hereditary spherocytosis
Fava beans
Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is an X-linked genetic disorder characterised by intermittent attacks of haemolysis. There may be a history of neonatal jaundice, typically within the first 24 hours of life. Triggers of G6PD deficiency include fava beans, drugs (nitrofurantoin, ciprofloxacin, sulphonyureas and other sulpha-drugs) and infections. Investigations will show evidence of haemolysis (normocytic anaemia, high reticulocyte count, high LDH etc.) and the blood film may show Heinz bodies and bite cells. In the absence of any predisposing medication, fava beans are the most likely cause in this case.
A 60 year old female presents to her GP with fatigue. Some routine blood tests are ordered which shows ↓Hb, ↓neutrophils and ↓platelets, ↓reticulocytes.
In secondary care, a bone marrow biopsy is carried out which shows ring sideroblasts.
She is given a diagnosis and told that her condition may progress to acute myeloid leukaemia (AML).
What is the most likely diagnosis in this patient?
Myeloma
Myelodysplasia
Acute lymphoblastic leukaemia
Chronic lymphocytic leukaemia (CLL)
Autoimmune haemolytic anaemia (AIHA)
Myelodysplasia
Myelodysplasia is considered a “premalignant” disease that affects myeloid cells, which has around a 30% chance of developing into AML. Myelodysplasia can present with bone marrow failure, as shown in the blood results, due to ineffective haematopoeisis. Furthermore, bone marrow biopsy may show ring sideroblasts, as described in this patient
A 60 year old female presents to her GP with fatigue. Some routine blood tests are ordered which shows ↓Hb, ↓neutrophils and ↓platelets, ↓reticulocytes.
In secondary care, a bone marrow biopsy is carried out which shows ring sideroblasts.
She is given a diagnosis and told that her condition may progress to acute myeloid leukaemia (AML).
What is the most likely diagnosis in this patient?
Myeloma
Myelodysplasia
Acute lymphoblastic leukaemia
Chronic lymphocytic leukaemia (CLL)
Autoimmune haemolytic anaemia (AIHA)
Myelodysplasia
Myelodysplasia is considered a “premalignant” disease that affects myeloid cells, which has around a 30% chance of developing into AML. Myelodysplasia can present with bone marrow failure, as shown in the blood results, due to ineffective haematopoeisis. Furthermore, bone marrow biopsy may show ring sideroblasts, as described in this patient
A 70-year-old male presents to the emergency department with bleeding gums. He has a history of atrial fibrillation and takes warfarin. He is haemodynamically stable.
His international normalised ratio (INR) is 9.1.
What is the most appropriate treatment?
Stop warfarin, give intravenous vitamin K and dried prothrombin complex.
Stop warfarin only
Stop warfarin, give oral vitamin K
Stop warfarin, give intravenous vitamin K and fresh frozen plasma (FFP)
Stop warfarin, give intravenous vitamin K
Stop warfarin, give intravenous vitamin K
NICE recommends ceasing warfarin and administering intravenous vitamin K for an INR >8 with minor bleeding.
A 15-year-old girl presents to the haematology clinic for routine follow-up. She has a past medical history of hereditary spherocytosis, for which she takes folic acid. She reports being fatigued and unable to play sport with her friends, which has persisted since her last appointment. She does not suffer from gallstones. On examination, she has conjunctival pallor and splenomegaly.
She thinks that these symptoms are having a major impact on her quality of life and asks if there is any other treatment she can have to help with her symptoms.
Haemoglobin (Hb) 78 g/L (115–155 g/L)
Mean cell volume (MCV) 84 fL (80–96 fL)
Reticulocytes 120 × 109/L (25–100 × 109/L)
Iron 20 nmol/L (11–30 nmol/L)
Ferritin 145 ng/L (12–200 ng/L)
Total iron binding capacity 62 nmol/L (54–75 nmol/L)
Which of the following is the best next step in the management of this patient?
Salbutamol inhaler
Iron supplementation
Hydroxycarbamide
Splenectomy
Avoid fava beans
Splenectomy
Hereditary spherocytosis is an inherited haemolytic anaemia, with typical clinical features including a hyperchromic normocytic haemolytic anaemia, jaundice, gallstones and splenomegaly. The management of this condition consists of folate supplementation and splenectomy. The rationale for splenectomy is to reduce the rate of haemolysis and improve red cell survival, therefore improving symptoms. According to the British Society of Haematology’s 2011 guidelines on the management of hereditary spherocytosis, splenectomy should be offered to those with moderate-to-severe disease severity eg. gallstones, reduced exercise tolerance. This patient would meet these criteria and therefore should be considered for splenectomy.
A 65-year-old man is receiving chemotherapy for a high-grade non-Hodgkin lymphoma. He has a past medical history of hypertension and gout, for which he takes amlodipine and allopurinol. Since starting chemotherapy, he has been prescribed a higher dose of allopurinol compared to what he usually takes. What is the indication for allopurinol here?
To treat gout
To prevent calcium oxalate renal stones
Prescribing error
To prevent gout
To prevent tumour lysis syndrome
To prevent tumour lysis syndrome
Tumour lysis syndrome is characterised by metabolic and electrolyte abnormalities that occur when a large number of cancer cells die within a short period. These abnormalities include hyperkalaemia, hyperphosphataemia and hyperuricaemia. Hyperuricaemia associated with chemotherapy can be prevented by taking allopurinol.
A 43 year old male presents to the Emergency Department because he has been feeling tired all the time and because he is unsteady on his feet. This has been progressing over six months. He has a history of alcohol excess. The foundation doctor performs a neurological examination, which shows normal power throughout but impaired vibration and pinprick sensation in his feet, only. His plantars are mute. His blood results show a macrocytic anaemia. What is the most likely diagnosis?
Iron deficiency anaemia
Thalassaemia
Vitamin B1 deficiency
Lead poisoning
Vitamin B12 deficiency
Vitamin B12 deficiency
Sub-acute combined degeneration of the cord is a neurological complication of vitamin B12 deficiency caused by degeneration both the dorsal columns and corticospinal tracts (pain and temperature sensation are typically preserved). It has a wide variety of presentations including distal sensory loss, ataxia, diminished vibration/propprioception sense and variable absent/exaggerated limb reflexes.
A 58 year old lady presents to her GP with generalised fatigue and night sweats which is investigated. She is diagnosed with chronic myeloid leukaemia (CML).
What is the mainstay of pharmacotherapy for Philadelphia chromosome positive CML?
Methotrexate
Rituximab
Lenalidomide
Imatinib
Prednisolone
Imatinib
This is correct. Imatinib is a BCL-ABR tyrosine kinase inhibitor which works to inhibit the tyrosine kinase activity induced by the Philadelphia chromosome. The Philadelphia chromosome is a hybrid chromosome of chromosome 9 and 22 - t(9;22) - forming the fusion gene BCR/ABL. This fusion gene, through its tyrosine kinase activity, potentiates uncontrolled proliferation of the myeloid cells, leading to CML
A 75 year old asymptomatic man is found to be mildly anaemic on routine blood tests. He past medical history includes hypertension, and atrial fibrillation secondary to valvular heart disease (he received a metallic aortic valve replacement 6 years earlier). He currently takes amlodipine, lisinopril, bisoprolol, simvastatin and warfarin.
On examination there is an irregular pulse with a loud second heart sound, but nil else of note.
First line blood tests demonstrate: normocytic anaemia (106 g/L); normal white cell and platelet counts; normal urea and electrolytes; unconjugated hyperbilirubinaemia (60 mmol/L), but otherwise normal liver function; normal C-reactive protein.
Second line blood tests reveal that iron studies and haematinics are normal, but The LDH level is raised. A few reticulocytes are noted on the peripheral blood film.
What is the single most likely causes of this patient’s anaemia?
Drug-induced anaemia
Haemolytic anaemia
Acute blood loss
Chronic myeloid leukaemia
Iron deficiency
Haemolytic anaemia
Metallic aortic valves are known to cause non-immune haemolytic anaemia in some cases (probably due to shear stress against the foreign material of the valve)
A 2 year old child is investigated due to failure to walk. His knees and hands are swollen and he cries with pain on examination of his joints. An X-ray of his knees shows lipohaemarthrosis. What is the most likely underlying diagnosis?
Hereditary Haemochromatosis
Juvenile Idiopathic Arthritis
Sickle Cell Disease
Trauma
Haemophilia
Haemophilia
Haemophilia often presents as failure to walk in toddlers due to bleeding into joints (lipohaemarthrosis)
A 53 year old man with terminal pancreatic cancer is followed up in the outpatient oncology clinic. He complains of multiple episodes of epistaxis in recent weeks. In addition, he has noticed that his blood takes longer to clot following blood tests.
On examination, the patient was profoundly jaundiced with a hard mass in the epigastrium. Inspection of a venepuncture site from earlier that day revealed a slow oozing of blood. Point of care testing revealed the patient’s INR was elevated.
What is the single most likely cause of this patient’s symptoms?
Factor V leiden
Trousseau syndrome
Chemotherapy-related thrombocytopenia
von Willebrand’s disease
Vitamin K deficiency
Vitamin K deficiency
This is the correct answer. This patient’s pancreatic cancer is causing total biliary obstruction, resulting in fat malabsorption and deficiency of the fat-soluble vitamins D, E, A and K. Deficiency in vitamin K may cause this pattern of bleeding, and is associated with a prolonged INR
A 70 year old male patient presents to the general practitioner for annual review of his diabetes. He is asymptomatic at present and his diabetes is well controlled. The GP orders some routine blood tests and the white cell count is found to be 128 x 10^9/L, with 85% lymphocytes.
Which of the following blood film findings is consistent with the most likely diagnosis?
Rouleaux formation
Smudge cells
Auer rods
Leukaemic lymphoblastic cells
Mature myeloid cells
Smudge cells
This is the correct answer. Smudge cells are seen in chronic lymphocytic leukaemia (CLL). In CLL lymphocytes are fragile so may be damaged during the slide preparation, resulting in smudge/smear cells. CLL typically presents in male patients over the age of 60, and is often picked up incidentally as a raised white cell count
A 60 year old male presents with weight loss, night sweats and generalised fatigue. He reports a number of infections over the last few months, including a number of upper respiratory tract infections and a urinary tract infection, which he has never had before.
On examination, massive hepatosplenomegaly is observed. There are no other significant abnormalities.
Blood investigations suggest bone marrow failure.
A peripheral blood film is ordered, which is shown below.
Blood film report: tear drop poikilocytes (dacrocytes) noted.
Which of these myeloproliferative disorders is this patient most likely to be suffering from?
Myelofibrosis
Essential thrombocythaemia
Chronic eosinophilic leukaemia
Polycythaemia rubra vera
Chronic myeloid leukaemia (CML)
Myelofibrosis
This is correct. Myelofibrosis presents with constitutional symptoms as described and is associated with tear drop cells on the peripheral blood film. It occurs when there is abnormal proliferation of fibroblasts which produce platelet-derived growth factor, leading to significant bone marrow fibrosis. This leads to bone marrow failure which causes anaemia, low platelets and low white cell count. The low white cell count may make the patient more susceptible to infections, as suggested by the multiple URTIs and new onset UTI
A 40 year old woman presents to the emergency department with vomiting and abdominal pain. She has a past medical history of lymphoma and had her chemotherapy regimen 3 days ago. Her heart rate is 72 beats per minute, blood pressure is 110/80 mmHg, temperature 37.0 degrees Celsius, respiration rate 14 breaths/min and SpO2 99% on air. An ECG done shows:
What would be your immediate management?
IV fluids
Ondansetron
Salbutamol nebuliser and insulin-glucose infusion
Allopurinol
10% Calcium gluconate
10% Calcium gluconate
The ECG shows features of hyperkalaemia, shown by PR prolongation, P wave flattening and peaked T waves. The patient is at risk of a life threatening arrhythmia, hence it is important stabilise the heart with calcium gluconate. Tumour lysis syndrome leads to an increase in serum urate, potassium and phosphate.
A 25 year old woman presents to her GP with recently worsening menorrhagia and recurrent epistaxis. The clinical examination is normal, with the exception of scattered cutaneous purpuric and petechial haemorrhages at sites of mild trauma.
A full blood count reveals a raised white cell count with normocytic anaemia (80 g/L) and reduced platelet count (45 x10^9/L). The blood film below shows abnormal white cells:
What is the single most likely underlying abnormality?
Von Willebrand’s disease
Vitamin K deficiency
Thrombocytopenia due to immune thrombocytopenia purpura (ITP)
Thrombocytopenia due to acute leukaemia
Haemophilia A
Thrombocytopenia due to acute leukaemia
This is the correct answer. New onset, abnormal bleeding should never be ignored and ad blood count sent promptly. The myelosuppression exhibited here in association with blast cells on the peripheral film strongly indicate acutre leukaemia.
