Amitesh 148
46 year old female with multiple health complaints
Amitesh 148
I've been given this case to solve in an attempt to understand the topic of "patient clinical data analysis" to develop my competency in reading and comprehending clinical data including history, clinical findings, investigations and come up with a diagnosis and treatment plan.
You can find the entire real patient clinical problem in this link here..
https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
Following is my analysis of this patient's problem:
The problems in order of priority I found are
1) Swelling
2) Headaches
3)Sleep disturbances
Causes for the above problems :
Investigations required to confirm G6PD deficiency:
1. Hemogram (showing decreased hemoglobin levels)
2. Reticulocyte count (increased)
3. LDH levels (which should be increased)
4. Haptoglobin
5. Direct Coombs test(negative )
6. Bilirubin(elevated)
7. Complete blood film showing characteristic cells like Heinz bodies, Bite cells.
8. Urobilinogen
My thoughts on the Treatment modalities she should receive are :
1. Do not consume fava beans, anti malarials and other things which can stimulate hemolysis
2. Blood transfusions if the anemia is severe.
2)Headaches
She gives a history of severe migraines with aura. It is also associated with numbness in the left side of face and left hand. It gets relieved on Triptans.
Cause can be Hemiplegic migraine
So in order to confirm it, she needs the following investigations:
1. CT
2. MRI
3)Sleep Disturbances:
She has been suffering from sleep disturbances since birth. She has only 2-4 hours of sleep and no REM sleep.
Possible causes:
1. Glycine deficiency because of G6PD deficiency.
2. AMPD1 Deficiency causing deficiency of adenosine.
Treatment : L serine which has similar action as Glycine in the brain.
Recent developments in this case :
She got diagnosed with Behcets syndrome which is explained by ulcers in her mouth and vagina.
Investigations needed to confirm Behcets :
1. Blood tests
2. Pathergy test
Treatment:
There is no treatment for Behcets disease. She cannot be prescribed with Colchicine because of her G6PD deficiency. Her symptoms can be controlled by topical creams for her mouth and vaginal ulcers. Systemic treatment can be immunosuppressants.
References :
Wikipedia
Amitesh 148
I've been given this case to solve in an attempt to understand the topic of "patient clinical data analysis" to develop my competency in reading and comprehending clinical data including history, clinical findings, investigations and come up with a diagnosis and treatment plan.
You can find the entire real patient clinical problem in this link here..
https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
Following is my analysis of this patient's problem:
The problems in order of priority I found are
1) Swelling
2) Headaches
3)Sleep disturbances
Causes for the above problems :
1)Swelling : She has been suffering from swelling since 2 years of age. She also complains of fluctuations in her body weight. The swelling got aggravatedonconsumingfavabeans,antimalarials.Possible causes for this could be: a) G6PD deficiency which was suggestive by her genetic testing which she underwent at 32 years of age.
G6PD is the main enzyme involved in the HMP shunt pathway in the production of NADPH. So if it is deficient then there will be excess of free radicals. This will cause oxidative stress which might be responsible for her swelling.Investigations required to confirm G6PD deficiency:
1. Hemogram (showing decreased hemoglobin levels)
2. Reticulocyte count (increased)
3. LDH levels (which should be increased)
4. Haptoglobin
5. Direct Coombs test(negative )
6. Bilirubin(elevated)
7. Complete blood film showing characteristic cells like Heinz bodies, Bite cells.
8. Urobilinogen
My thoughts on the Treatment modalities she should receive are :
1. Do not consume fava beans, anti malarials and other things which can stimulate hemolysis
2. Blood transfusions if the anemia is severe.
2)Headaches
She gives a history of severe migraines with aura. It is also associated with numbness in the left side of face and left hand. It gets relieved on Triptans.
Cause can be Hemiplegic migraine
So in order to confirm it, she needs the following investigations:
1. CT
2. MRI
3)Sleep Disturbances:
She has been suffering from sleep disturbances since birth. She has only 2-4 hours of sleep and no REM sleep.
Possible causes:
1. Glycine deficiency because of G6PD deficiency.
2. AMPD1 Deficiency causing deficiency of adenosine.
Treatment : L serine which has similar action as Glycine in the brain.
Recent developments in this case :
She got diagnosed with Behcets syndrome which is explained by ulcers in her mouth and vagina.
Investigations needed to confirm Behcets :
1. Blood tests
2. Pathergy test
Treatment:
There is no treatment for Behcets disease. She cannot be prescribed with Colchicine because of her G6PD deficiency. Her symptoms can be controlled by topical creams for her mouth and vaginal ulcers. Systemic treatment can be immunosuppressants.
References :
Wikipedia
https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
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