42 year old woman with multiple health issues

J.Roshna
Roll no. 69


After going through the patient's history, clinical findings and investigations,

Problems of this patient in order of my priority are:
1) Fatigue,skin- pale and yellow,shortness of breath
2) Oliguria and unable to sweat
3) edema
4)headaches
5)sleep disturbances

1) Fatigue, dyspnoea-
 This is due to hemolytic anemia which is caused due to G6PD deficiency.
G6PD enzyme helps the RBC from oxidative stress by free radicals by releasing NADPH.
So lack of this enzyme causes hemolysis.
-The triggering factors for this patient are eating fava beans,intake of anti malarials,sulfa drugs,exposure to various allergens.
- It can also lead to increase in heart rate 
- Her urine color is also dark and yellow which is due to bilirubin.
Investigations done are:
CBP,
serum free floating hemoglobin level
test detecting g6pd enzyme
serum bilirubin levels
Peripheral smear 
LFT
Non pharmacological treatment: avoid aggrevating factors that cause oxidative stress 
Pharmacological treatment:
Ribose was given
oxygen therapy
Blood transfusion
Drugs that decrease heart rate

2)Oliguria
- Kidney damage can occur due to G6PD Deficiency causing oxidative stress by destroying ATP which is required for pereventing loss of ions.
- or kidney dysfunction may be due to past streptococcal infection.?
Investigations done are:
CUE,
Renal function test
USG
Cystoscopy
Investigations to be done are: 
ASO antigen detection.


3)Edema:
- can occur due to anemia
-kidney failure due to underlying cause
- also excessive alcohol consumption
- her body weight increased when she exposed to oxidative stress
Treatment given was- cimetidine for reducing swelling


4)Headaches,frequent falls
- migraine  and vomitings
- during childhood she had frontal bossing suggestive of increase in intracranial pressure 
- also CSF leak
-Frequent falls - ataxia suggestive of cerebellar tumours
- inflammation of scalp during attacks 
Investigations to be done are: 
CT, MRI of brain to rule out tumours
CSF analysis 
Treatment: triptans for migraine
To be continued
Advice to the patient: Avoid stress,staying in dark room


5) Sleep disturbances:
-this could be due to decrease in the levels of glycine. Because glycolysis pathway is inhibited due to deficiency of G6PD enzyme. Glycine is an inhibitory neurotransmittor that depresses CNS.
So lack of glycolysis causes sleep disturbance.
Investigations done are : EEG
Treatment given : L serine. This converts into glycine in the body. 


Other problems:
1. as there are lung infections,smoking there would be pulmonary hypertension causing right heart failure.investigations done are: chest x Ray,ECG,echocardiogram

2.scoliosis- CT spine

-muscle weakness- could be due to AMPD deficiency

3.occasional hip joint and knee pain - may be due to osteoarthitis

4.positive for Behcet disease and thus rashes,mouth ulcers,blurred vision.

5.excessive bleeding and clots may be due to vWD diease

6 pain tolerance .....???












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