Blackboard EMQs Haematology Flashcards
A 62 year old woman with RA is taking methotrexate, prednisolone and ibuprofen. She is admitted to A&E with the sudden onset of weakness and faintness. She feels nauseated and is hypotensive. Hb is 8g/dl.
What is the most likely diagnosis? A. Dietary folic acid deficiency B. Pernicious anaemia C. Sickle cell anaemia D. Blood loss E. Coeliac disease F. Iron deficiency G. Thalassaemia major H. Sickle cell trait I. Anaemia of chronic disease J. Haemolytic uraemic syndrome K. Glucose-6-phosphate dehydrogenase deficiency L. Hereditary
D. Blood loss
This is blood loss from a bleeding peptic ulcer. The patient here has a key risk factor to the development of a peptic ulcer with chronic NSAID use (ibuprofen). NSAIDs inhibit COX which has the effect of reducing PGE2 levels. PGE2 plays a role in gastric cytoprotection by downregulating HCl production and increasing mucus and the production of bicarbonate. This leads to gastric irritation and ulceration. A PPI can be prescribed alongside NSAIDs or misoprostol can be used, which is a stable PGE1 analogue which mimics local PG to maintain the gastroduodenal mucosal barrier. NSAID induced ulcers are more likely to be gastric than duodenal.
A 17 year old Northern European Caucasian girl has a normocytic normochromic anaemia with a low ferritin, low serum B12 & low red cell folate. A Schilling test shows malabsorption of vitamin B12 which is not corrected by intrinsic factor.
What is the most likely diagnosis? A. Dietary folic acid deficiency B. Pernicious anaemia C. Sickle cell anaemia D. Blood loss E. Coeliac disease F. Iron deficiency G. Thalassaemia major H. Sickle cell trait I. Anaemia of chronic disease J. Haemolytic uraemic syndrome K. Glucose-6-phosphate dehydrogenase deficiency L. Hereditary
E. Coeliac disease
This is a common condition in the US and Europe. Coeliac disease most commonly presents with IDA, although it can also lead to a macrocytic anaemia with mainly folate deficiency (though B12 is also affected but hepatic stores last several years). It would be an uncommon instance in this case for all three of iron, B12 and folate to be low. However, this history and the findings point to coeliac disease. The B12 deficiency is not corrected by IF which means that the cause is malabsorption opposed to pernicious anaemia with a lack of IF. It is worth noting that the Schilling test is no longer routinely done in clinical practice. In this test, IM vitamin B12 is given to saturate stores. Then oral radiolabelled B12 is given and urine is collected over 24 hours. The amount excreted is lower in B12 malabsorption. If this is not corrected by IF the problem is with the ileum and not inadequate IF. Coeliac is an autoimmune condition triggered by gluten peptides found in wheat, rye and barley. The ultimate best test is duodenal biopsy and histology to show intra-epithelial lymphocytes, villous atrophy and crypt hyperplasia. Macroscopic changes may be present but endoscopy is generally unhelpful. The test of choice before performing such an invasive confirmatory test is to look for elevated anti-gliadin antibodies. Anti-tissue transglutaminase is less accurate and endomysial antibody is more expensive and has lower sensitivity.
A 32 year old pregnant West African woman has an Hb of 10.2g/dl, a normal MCV & a positive sickle solubility test. Haemoglobin electrophoresis shows 45% haemoglobin S & 55% haemoglobin A.
What is the most likely diagnosis? A. Dietary folic acid deficiency B. Pernicious anaemia C. Sickle cell anaemia D. Blood loss E. Coeliac disease F. Iron deficiency G. Thalassaemia major H. Sickle cell trait I. Anaemia of chronic disease J. Haemolytic uraemic syndrome K. Glucose-6-phosphate dehydrogenase deficiency L. Hereditary
H. Sickle cell trait
Africans have higher incidence of sickle cell trait and anaemia. About 8% of black people carry the gene and the prevalence is high in sub-Saharan Africa. Sickling occurs when RBCs containing HbS become distorted into a crescent shape. Sickle cell trait occurs when the child inherits a sickle gene from one parent and a normal gene from the other parent. This is shown by the eletrophoresis results. Patients with sickle cell anaemia have no HbA at all. A sickle solubility test will not be able to differentiate between sickle cell disease and sickle cell trait, and may not be accurate in young infants under 6 months due to fetal Hb. If both parents carry the sickle cell gene, there is a 1 in 4 chance of giving birth to a child with sickle cell anaemia. Sickle cell disease also includes other conditions such as HbS from one parent with another abnormal Hb or beta thalassaemia from the other parent such as HbS-Beta thal and HbSC.
A 66 year old alcoholic man has a firm irregular liver, testicular atrophy, splenomegaly, a normocytic normochromic anaemia & thrombocytopaenia.
What is the most likely diagnosis? A. Dietary folic acid deficiency B. Pernicious anaemia C. Sickle cell anaemia D. Blood loss E. Coeliac disease F. Iron deficiency G. Thalassaemia major H. Sickle cell trait I. Anaemia of chronic disease J. Haemolytic uraemic syndrome K. Glucose-6-phosphate dehydrogenase deficiency L. Hereditary spherocytosis
I. Anaemia of chronic disease
Whilst alcoholism may prompt you to consider alternative causes for this man’s anaemia, a positive alcohol history may be present in those with ACD and the normocytic normochromic anemia gives this away. ACD is caused by inflammation, which can result from various disease processes. The release of pro-inflammatory cytokines leads to a cascade producing anaemia due to decreased RBC production and shortened survival. The anaemia of ACD can also be microcytic.
A 46 year old Indian vegetarian man with a past history of ileal resection for Crohn’s Disease presents with an Hb of 11.6g/dl & a MCV of 110fl.
What is the most likely diagnosis? A. Avascular necrosis B. Gout C. B12 malabsorption D. Beta thalassaemia E. Haemolytic anaemia F. Chronic renal failure G. IDA H. Anaemia of chronic disease I. Acute blood loss J. Chronic blood loss K. Polycythaemia rubra vera L. Sickle cell anaemia M. Thrombocytopenia
C. B12 malabsorption
The ileal resection is also a clue here as vitamin B12 is actively absorbed at the terminal ileum (along with sodium ions and bile salts). Even without post-ileocaecal resection, ileocaecal Crohn’s can itself also give B12 deficiency. Anaemia in Crohn’s can be due to chronic inflammation, chronic blood loss or the malabsorption of iron, B12 or folic acid. The anaemia here is macrocytic, which indicates one of the latter two. ACD would give a normocytic (though possible microcytic) picture and IDA from malabsorption or blood loss would be microcytic. This is hence B12 or folate and as folate malabsorption is not an option on the list and the ileal resection here is a massive pointer to B12 malabsorption.
A Nigerian child aged 2 presents to A&E crying with pain. On examination he is found to have swollen fingers & faint jaundice. The child’s blood count shows a WBC & neutrophil count that are higher than expected for an African child.
What is the most likely diagnosis? A. Avascular necrosis B. Gout C. B12 malabsorption D. Beta thalassaemia E. Haemolytic anaemia F. Chronic renal failure G. IDA H. Anaemia of chronic disease I. Acute blood loss J. Chronic blood loss K. Polycythaemia rubra vera L. Sickle cell anaemia M. Thrombocytopenia
L. Sickle cell anaemia
Africans have a higher incidence of this condition. About 8% of black people carry the gene and the prevalence is high in sub-Saharan Africa. Sickling occurs when RBCs containing HbS become distorted into a crescent shape. Patients with sickle cell anaemia have no HbA at all. If both parents carry the sickle cell gene, there is a 1 in 4 chance of giving birth to a child with sickle cell anaemia. This patient has presented with hand-foot syndrome with swollen fingers which are painful. This is dactylitis resulting from a skeletal vaso-occlusive crisis, the presentation of which depends on age, as in older childen, marrow is more commonly found in the epiphyses and in adults is limited to the bones of the axial skeleton. The FBC should also show some degree of anaemia and leukocytosis is also a presentation in infants, the cause of which is not clear but it is suggested to be due to splenic infarction. The jaundice is an indication of haemolysis.
A 72 year old man presents with left hemiplegia of sudden onset. On examination, he appears plethoric & his spleen is felt 3cm below the left costal margin. He appears normally hydrated. FBC reveals:WBC 23x109/l, Hb 18.2g/dl, Platelet count 614 x109/l
What is the most likely diagnosis? A. Avascular necrosis B. Gout C. B12 malabsorption D. Beta thalassaemia E. Haemolytic anaemia F. Chronic renal failure G. IDA H. Anaemia of chronic disease I. Acute blood loss J. Chronic blood loss K. Polycythaemia rubra vera L. Sickle cell anaemia M. Thrombocytopenia
K. Polycythaemia rubra vera
PRV is a disease of middle and older age and is strongly associated with the JAK2V617 mutation. Facial redness and fullness is commonly observed and splenomegaly is a common finding. Pruritis is a common feature and is often severe and evoked by contact with water. It is a myeloproliferative disorder with raised Hct, Hb and RBC count. Blood hence becomes very viscous. There is a clear link between Budd-Chiari syndrome and subsequent PRV. Treatment is with venesection. Around 30% will go on to develop myelofibrosis.
A 67 year old man presents to his GP complaining of lethargy & weight loss. Rectal examination revealed a palpable irregular mass in the rectum. He is found to have a microcytic anaemia.
What is the most likely diagnosis? A. Avascular necrosis B. Gout C. B12 malabsorption D. Beta thalassaemia E. Haemolytic anaemia F. Chronic renal failure G. IDA H. Anaemia of chronic disease I. Acute blood loss J. Chronic blood loss K. Polycythaemia rubra vera L. Sickle cell anaemia M. Thrombocytopenia
J. Chronic blood loss
This patient has a rectal carcinoma as indicated by his symptoms combined by the palpable mass in the rectum. He is anaemic due to blood loss and this accounts for his lethargy. Treatment of rectal carcinoma involves surgical excision where possible. This can either be an anterior resection (tumours in the upper 1/3 of the rectum) or an abdominoperineal resection (if the tumour lies lower down). APER involves the formation of a permanent colostomy and has a high incidence of sexual and urinary dysfunction. Anterior resection involves a colo-anal anastamosis.
Philadelphia chromosome
Choose the diagnosis that matches the abnormality most closely. A. Hodgkin's Disease B. Multiple myeloma C. Chronic myeloid leukaemia D. Non-Hodgkins lymphoma E. Acute lymphoblastic leukaemia F. Eosinophilic leukamia G. Polycythaemia rubra vera H. Acute myeloid leukaemia I. Essential thrombocythaemia J. Chronic lymphocytic leukaemia
C. Chronic myeloid leukaemia
The pathognomic feature of CML is the Philadelphia chromosome, which is a reciprocal translocation between chromosomes 9 and 22 which results in an abnormal chromosome 22. The BCR gene on 22 is fused with the ABL gene from 9 resulting in the BCR-ABL fusion oncogene. BCR-ABL is an active tyrosine kinase which phosphorylates and alters the activity of downstream signal transduction proteins. Treatment is hence with a tyrosine kinase inhibitor such as imatinib which inhibits the BCR-ABL tyrosine kinase.
Reed Sternberg cell
Choose the diagnosis that matches the abnormality most closely. A. Hodgkin's Disease B. Multiple myeloma C. Chronic myeloid leukaemia D. Non-Hodgkins lymphoma E. Acute lymphoblastic leukaemia F. Eosinophilic leukamia G. Polycythaemia rubra vera H. Acute myeloid leukaemia I. Essential thrombocythaemia J. Chronic lymphocytic leukaemia
A. Hodgkin’s Disease
The characteristic cell of Hodgkin’s lymphoma is the Reed-Sternberg cell. These have an ‘owl’s eye’ appearance.
Increase of monoclonal plasma cells in the bone marrow
Choose the diagnosis that matches the abnormality most closely. A. Hodgkin's Disease B. Multiple myeloma C. Chronic myeloid leukaemia D. Non-Hodgkins lymphoma E. Acute lymphoblastic leukaemia F. Eosinophilic leukamia G. Polycythaemia rubra vera H. Acute myeloid leukaemia I. Essential thrombocythaemia J. Chronic lymphocytic leukaemia
B. Multiple myeloma
Plasma cell infiltration into the bone marrow (>10%) indicates multiple myeloma and helps to differentiate it from MGUS and solitary plasmacytoma
Urinary Bence -Jones protein
Choose the diagnosis that matches the abnormality most closely. A. Hodgkin's Disease B. Multiple myeloma C. Chronic myeloid leukaemia D. Non-Hodgkins lymphoma E. Acute lymphoblastic leukaemia F. Eosinophilic leukamia G. Polycythaemia rubra vera H. Acute myeloid leukaemia I. Essential thrombocythaemia J. Chronic lymphocytic leukaemia
B. Multiple Myeloma
A Bence Jones protein is an immunoglobulin light chain which is suggestive of multiple myeloma or Waldenstrom’s macroglobulinaemia.
A 45 year old male presents with a 4 month history of weight loss and anorexia. He complains of recently experiencing sweats and abdominal examination reveals splenomegaly. What is the likely diagnosis?
A. Smear cells B. Schistiocytes C. Ionising radiation. D. Bite cells E. Dacrocytes F. UV radiation G. Acute lymphoblastic leukaemia H. Acute myeloid leukaemia I. Chronic myeloid leukaemia J. Magnesium
I. Chronic myeloid leukaemia
This is CML which tends to present in the 30-60 age group. At presentation 1/3 may be asymptomatic though if symptomatic, it presents with symptoms including fever, weight loss and night sweats. There is myeloid stem cell proliferation and presents with raised neutrophils, metamyelocytes and basophils. CML is associated with the philadelphia chromosome characterised by t(9;22) of bcr-abl. There tends to be massive splenomegaly which is the most common physical finding on examination. This conditon may transform to AML or ALL in what is known as a ‘blast crisis’. CML responds to imatinib, which is an anti-bcr-abl antibody and gives long term remission in most patients.
A retired 87 year old female presents with a history of repeated infections and lymphadenopathy. Which cells seen on the peripheral blood film suggest a diagnosis of chronic lymphocytic leukaemia?
A. Smear cells B. Schistiocytes C. Ionising radiation. D. Bite cells E. Dacrocytes F. UV radiation G. Acute lymphoblastic leukaemia H. Acute myeloid leukaemia I. Chronic myeloid leukaemia J. Magnesium
A. Smear cells
Smear or smudge cells occur as a result of lymphocyte damage during the preparation of the slide. This is because they are fragile in CLL and so when put onto a glass slide will give rise to many broken cells.
A 58 year old female presents with tirednesss, leg bruises and SOB on exertion. Peripheral blood film reveals blasts containing Auer rods. The liver and spleen are not palpable.
A. Smear cells B. Schistiocytes C. Ionising radiation. D. Bite cells E. Dacrocytes F. UV radiation G. Acute lymphoblastic leukaemia H. Acute myeloid leukaemia I. Chronic myeloid leukaemia J. Magnesium
H. Acute myeloid leukaemia
AML predominantly affects older adults with characteristically, abnormal blasts present in peripheral blood and normal haematopoiesis reduced. AML is basically the clonal expansion of myeloid blast cells in the bone marrow, peripheral blood or extramedullary tissue. Bone marrow blasts of at least 20% are diagnostic, obtained from BM biopsy. This patient has the features of cytopenia with signs and symptoms of anaemia and thrombocytopenia. The peripheral blood film gives away this diagnosis with myeloid blasts being present with Auer rods. While this patient does not have hepatosplenomegaly, this feature may be present.
