A 42 YEAR OLD FEMALE WITH MULTIPLE HEALTH ISSUES.

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I have 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 below.....(https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1)  

Following is my analysis of the patient's problem:

Present Complaints of the patient :
 1) Left sided weakness 
 2) Swelling which is mainly confined to face and abdomen
 3)Migraine with aura 
 4) Sleep disturbances
 5) Exercise induced fatigue
 6) Shortness of breath

1).LEFT SIDED WEAKNESS :

-Numbness in left side of face, loss of function on left side of the body.
-Had this type of weakness at the time of migraine attack.
-Passible dignosis could be HEMIPLEGIC MIGRANE.


2).SWELLING :
 It started at the age of 1 and patient still swells up in conditions of :-
 Emotional stress,exercise,smoking or eating the wrong thing.Swelling is mainly in face,neck region and abdomen.
 
REASONS :
It might be a part of hemolytic crises occuring in patient due to G6PD deficiency.

G6PD DEFICIENCY :
It is a X-linked intermediate disease. HMP shunt pathway is affected in this condition where there is decreased production of NADPH. NADPH maintains the levels of reduced glutathione which inturn maintains the RBC integrity.
If the reduced glutathione levels are low then the RBCs become fragile and when they are subjected to oxidative stress undergo hemolysis.

POSSIBLE TRIGGERS IN THIS PATIENT ARE:
  • Infections:recurrent UTI and pneumonia infections
  • Severe reaction to antimalarials
  • Severe reaction to sulfa drugs
  • Severe edema after FAVA BEANS ingestion
Following these triggers the patient had symptoms suggestive of hemolysis like coke coloured urine(hemoglobinuria),diarrhoea,vomiting,swelling and acute kidney injury.

TREATMENT :
  • Avoiding oxidative stress.
  • Vaccination against pneumonia is taken ehich helped in preventing infection induced attacks of hemolysis to some extent.
  • In acute phases, blood transfusion may be necessary.
  • Apple has good antioxidant properties which the patient is taking daily.

  3). Migraine with Aura :
  • Onset - Sudden
  • Duration - Since 2 years of age so approximately 40 years
  • Progression - gradually progressive in intensity 
  • Site - More in the left side
  • Associated complaints - 
  1. preceded by Aura, 
  2. generally associated with numbness of left hand and left face 
  3. feeling of rotation and spinning while sleeping on left side.   
  • Past History : At age of 34 years, she had the worst headache as described by her due to which she lost her vision and began stuttering. It relieved by itself within 2 hours but her stuttering returned. 
  1. She also had mild memory loss as well as loss of function of left side ( dropping things intermittently and severe cramping of left arm.)
  2. Also had a history of CSF rhinorrhoea from her left nostril.
  3. At 41 years, she underwent genetic testing and was found to have G6PD deficiency, AMPD1 deficiency, MTHFR deficiency
  • Relieving Factors - Triptans

4). Sleep disturbances:
  • Onset - since birth
  • Duration of sleep - 2-4 hours and no REM sleep
 Possible causes :
  • AMPD1 Deficiency can cause sleep disturbances because Adenosine is an inhibitory neurotransmitter so it should help in sleep.
  • G6PD Deficiency impaired the glycolysis so glycine is not formed well . Glycine is also an inhibitory neurotransmitter.
 Treatment taken by her :
  • L serine : works like glycine in brain so helps in better sleep
  • Cimetidine     

5). Exercise Induced Fatigue :
      
Possible causes :
  • AMPD1 deficiency - lack of ATP hence the person gets easily tired.
  • Oxidative stress from excess of free radicals because of G6PD deficiency
  • Past history shows parents to be chain smokers which increases the oxidative stress.
Treatment given :
  • Ribose - helped her too because it provides ATP.    
6). Shortness of Breath :

  •  she is suffering with G6PD deficiency.Glucose 6phosphate dehydrogenase enzyme which is required in the generation of ROS(reactive oxygen species) like peroxides,superoxides in macrophages required fpr killing the bacteria .Due to the deficincy ,there is weak immunesystem and results in severe infections which resulted in chronic lung infections and liver infections.
  • Due to which she has chronic beathing problems.

OTHER PROBLEMS :

  • MTHFR (Methylene tetrahydrofolate reductase) MUTATION :
 Increased homocysteine levels,decreased folate and B12 levels. 
Associated with:Digestive issues,migraines,depression, anxiety,bipolar disease,peripheral neuropathy and scoliosis.

TREATMENT:Folate,Vitamin B6,12 supplements,methionine and 5-MTHF.
  • WNK1 MUTATION
It is a serine threonine kinase which helps in regulation of cation-chloride cotransporters.
Associated with familial hyperkalemic hypertension syndrome.
  • PCOS  causing ectopic pregnancy & hair loss
  • VWF mutation leading to heavy menstrual bleeding

REFERENCE :

         

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