42 year old patiend with multiple heath events
Case discussion
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 here..
Following is my analysis of this patient's problem:
The problems in order of priority I found are
1)Frequent falls to the left. Left foot started giving out as well as hand. one fall down stairs sprained and broke ankle (last year) X-ray below. Poor stress response.
2) Swelling/ hair loss (head and eyelashes) Fatigue. Left jaw pain up into face.
3) Breathing difficulties.
4)intolerance from most foods, smoke.
5)Always less urination which increase when fasting.
6)Sleep was bad with 2-4 hours.
And the the reason for problems:
- HEMIPLEGIC MIGRAINE
- Transient Ischemic Attack (But if she has TIA she is less likely to have other aura symptoms)
- Infections like meningitis, encephalitis (she should have a fever, rash)
- Brain tumours
- Seizures with post-ictal paralysis
- Metabolic Disturbances like Homocystinuria (as she has MTHFR deficiency, she can have high homocysteine levels)
- MELAS ( Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes)
- Fav seeds consumption.
- Angioedema
- AMPD1 Deficiency can cause sleep disturbances.
- G6PD Deficiency impaired the glycolysis so glycine is not formed well.
And my proposed solution is ...
- Hemiplegic migraine - Triptans (which she is already consuming)
- Surgery (Carotid endareterectomy) - TIA ( cannot give anticoagulants because she has G6PD Deficiency)
- Anti epileptics - Seizures
- Fava seed consumption-It is a genetic disorder so no cure.
Treatment of symptoms can be done
Avoid triggers like oxidants
If Hemolytic episode is seen then hydration followed by blood transfusion based on severity of anemia.
Some of the treatment options
1- Ribose diet
2- L serine for sleep
3- cutting oxidative stress
4.vitamin B complex
5.antioxidant vitamins
6.fructose+antioxdants
7 salt + butter
8.keto diet.
9. iron folate supplemets.
10. antioxidant supplement pycnogenol
11.cimetidine for swelling - tried and helped
12. NAC
Some of the treatment options
1- Ribose diet
2- L serine for sleep
3- cutting oxidative stress
4.vitamin B complex
5.antioxidant vitamins
6.fructose+antioxdants
7 salt + butter
8.keto diet.
9. iron folate supplemets.
10. antioxidant supplement pycnogenol
11.cimetidine for swelling - tried and helped
12. NAC
- Angioedema -Avoiding stress,serine-increased urination,excess salt consumption,donot consume fava beans.
- Sleep disturbances-L serine : works like glycine in brain so helps in better sleep,cimetidine
Investigations:
Such as further clinical history and examination history
1.Hemiplegic migraine,ischemic attack and brain tumours.
- CT and MRI of brain can confirm brain tumours, stroke, TIA
- CSF analysis to diagnose infections
- EEG to detect seizures
- Magnetic Resonance Angiography to diagnose TIA
- Intracranial pressure
2.Angioedema
- Hemogram - shows anemia
- ECG - signs of Right Heart Failure
- CXR - Left atrial enlargement in this case
- SGPT, SGOT - elevated in this case suggestive of hemolysis
- CUE - to show infection
Heart Rate from a recent normal day
Normal
On 1st day L-Serine
Edema changes within a week
1 week apart
1 week apart
1 Day apart
1 week apart
Normal
On 1st day L-Serine
Edema changes within a week
1 week apart
1 week apart
1 Day apart
1 week apart
And more labs and imaging
Various Lab. records from last year
l
Treatment received till now:
Pharmacological
) L-Serine 20 gm at night,
2)Ribose 2 gm every hour in water, if any major exercise or exertion.
3)400mg cimitidine
4)600mg NAC
5)Iron folate 500% of RDA
Non pharmacological:
1)exercises like going on hike
2)going on several kinds of diet
My thoughts on possible changes to the treatment:
Pharmacological:
1. Ribose - orally, 0.2g/kg/day ; Taken hourly provides direct but limited source of energy to cells
2. Creatine Monohydrate
3. Cemitidine - Decreases swelling and Improves Sleep
4. L-serine - Improves Sleep Inititation and Maintainance
5. Triptans - Migrain
Non pharmacological:
1.regular exercise
2.reduce stress
3.avoid alolcohol consumption and smoking
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