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Suggest some possible explanations for the symptoms and laboratory results observed here. Explain your reasoning and how you might rule out possible causes.

Case Studies in Pathology Coursework 2 2022-23

Compendium of Cases

For each case read through the scenario and results given and then work through the questions for each case

Case 1

Read through the case and answer the questions given. There are three questions on this case. Prepare your case write up addressing the questions about the case. You should refer to the marking grid and structure your answers to ensure you are including your own analysis of the data and scientific content to support your conclusions and explain pathologies or treatment strategies.

You are preparing this case for an audience largely made up of biomedical laboratory staff from a mix of disciplines.

Mr. G is a 32 year old male. He is a keen amateur footballer who has recently been dropped from his local team. He discussed this with the coach and admitted he had been feeling unusually fatigued for quite a few months now. He was advised to visit his doctor. At this visit the doctor was able to determine that this tiredness had been occurring for at least 6 months. Mr. G also reported that he sometimes has episodes of sweating at night. He also notes occasionally there is discomfort in his left upper abdomen. He does not smoke and drinks rarely. He is not currently on medication and there is no history of previous illness or relevant family history. He also denies taking any recreational drugs.

On physical examination Mr. G did appear healthy; he was normal weight for age and height. The only abnormal finding was an enlarged spleen. No evidence of lymphadenopathy was found.

Laboratory testing gave the following results:

Parameter	Mr. G
Haemoglobin	14.7g/dL
WBC count	58 x 10 9 /L
Platelets	590 x 10 9 /L
Reticulocyte count	58 x 10 9 /L

Further results:

• LDH 760 IU/L
• Urate 625 µmol/L
• Blood film showed evidence of white cell precursors (metamyelocytes, myelocytes and promyelocytes)

Question 1. Suggest some possible explanations for the symptoms and laboratory results observed here. Explain your reasoning and how you might rule out possible causes.

A bone marrow aspirate was taken for examination and cytogenetic analysis. Examination showed an increased cellularity of the bone marrow. Cytogenetic analysis showed a t(9;22) translocation.

Question 2. Using this information give a more specific diagnosis. Explain the underlying pathology of the condition you have diagnosed explaining how it gives rise to the symptoms and laboratory findings presented.

Mr. G is first treated with Gleevec. However, this is unsuccessful and further options are sought.

Question 3. Discuss the treatment available for this condition. Explain the mechanisms giving rise to resistance to Gleevec and consider the possible alternatives. What is your overall prognosis for Mr. G?

Case 2

Read through the case and answer the questions given. There are four questions on this case. Prepare your case write up addressing the questions about the case. You should refer to the marking grid and structure your answers to ensure you are including your own analysis of the data and scientific content to support your conclusions and explain pathologies or treatment strategies.

You are preparing this case for an audience largely made up of lay people.

Mr. R is a 48 year old male who has visited his GP. He has had an ongoing problem of fatigue which has been becoming steadily worse over about 10 months. He sleeps very few hours even though he has been prescribed sleeping tablets. He has also noted he suffers from intermittent pain in the joints of his right hand.

Mr. R is married and has 2 children.

About 6 months ago Mr. R visited a different doctor reporting the same symptoms but this was put down to work related stress.

Mr. R does not smoke but does drink most nights and consumes more than 21 units per week. He is examined and found to be overweight. He is tanned. His liver is enlarged and there is tenderness around one of his finger joints.

He is advised to cut down on his alcohol consumption and also stops taking the sleeping pills. However, on a return visit one month later his fatigue has not improved. A family history is taken: Mr. R’s father had suffered from diabetes mellitus and had died of cirrhosis of the liver. His family were surprised at this as he did not drink alcohol. Mr. R also reveals at this appointment that he is impotent. A full examination shows he also has gynaecomastia and little body hair.

Blood test results showed the following:

Parmeter	Mr. R
Haemoglobin	17.0 g/dL
MCV	102fL
White cell count	6.8 x 10 9 /L
Platelet count	190 x 10 9 /L
Reticulocyte count	70 x 10 9 /L
Serum Vitamin B12	550ng/L
Red cell folate	320 µg/L

Additional biochemical testing was carried out and the results shown below:

Parameter	Mr. R
AST	70 IU/L
ALP	132 IU/L
GGT	91 IU/L
Random blood glucose	13.7mmol/L
Follow up fasting blood glucose	9.6mmol/L

Question 1: Based on the information given up to now suggest some possible diagnoses for Mr. R. Explain your reasoning with reference to the information used.

3 months later Mr. R returns to the GP. He has lost some weight and has started exercising. However, he is still fatigued and the sore hand and impotence have not improved. On examination his liver is still enlarged and the gynaecomastia seems to have worsened. A cousin of Mr. R has recently been diagnosed with liver disease and told he has ‘too much blood’.

Further blood tests were taken

Parameter	Mr. R
Transferrin saturation	75%
Ferritin	3990 µg/L

Question 2: Given this further information can you make a revised diagnosis of Mr. R? Explain your reasoning and state what further testing could confirm this?

Question 3: Explain the underlying pathology of this condition and link this to the symptoms displayed by Mr. R.

Question 4: How should Mr. R be treated? What advice might be offered to his family?