A 42 year old female with multiple health ailments.

 

Laxmiraj Bangari 22


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 technical problem in this link here:

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



The problems in order of priority are:


1. Headaches


2. Swelling


3. Left sided weakness


4. Sleep deprivation.


5. Fatigue due to exercise.



Reasons for the problems are:



1.Headache.


    Headaches started in very young age and became worse with menses at 14 and when she used hormonal contraceptives like nova ring( release oestrogen and progesterone).


    These are migraine attacks which got severed later on.


    Sometimes they are preceded by aura. 


    Earlier I thought it was just an prementrual headache. Mentrual migraine they called.


    But later it is concluded as migraine.


Migraine

 Migraine are episodic are episodic and are associated with aura.


    Diagnostic criteria for migraine:



    Aggravated by movement.

    Throbbing pain

    Unilateral

    Moderate to severe intensity.



    Characteristics of aura seen :


    Gradual onset 

    Lasting for less than 1 hr

    Self resolving


Treatment for migraine


    Triptans 



Swelling 

 It started at age 2 and patient swells in face , neck , abdomen. In conditions like emotional stress, exercise , smoking.


It may be due to haemolytic crisis in patient due to G6PD deficiency.


G6PD deficiency


It is an x linked resessive disorder, it is a key enzyme in HMP shunt pathway, it is required to produce NADPH that is used to synthesis GLUTATHIONE. glutathione is an antioxidant. That neutralises the oxidising part of H2O2. In case of absence of this NADPH the oxidant loses the RBC cell membranes . Thus he players occurs intravascular.


Triggers for hemolysis


Drugs: sulfonamides , quinine, aspirin, dapsone .

Infections

Favism it’s called: reaction to fava beans.


 Symptoms:

 Hemoglobinuria, dark urine, anemia ,backpain, vomiting swelling,.


Investigations


Peripheral smear shows Heinz bodies , bite cells.

Coombs rest is negative , as it is not an autoimmune haemolytic anemia .


Treatment


Avoid triggers.


 Blood transfusions for support.


Left sided weakness


Numbness in left hand and left side of face started at 34 years.


Possibly due to Hemiplegic migraine 


This is associated with spinning sensation.


According to history she also felt a tight mass feeling between her neck and jaw, but imaging shows it clear , no pathology or abnormality detected.


Sleep deprivation 


Sleep is deprived since her very young age she used to sleep only 2 to 4 hours.


Causes: NADPH , low glycine and AMDP 1 deficiency.


Treatment not known. L serine known to act like glycine and improves sleep.


Fatigue due to exercise 


AMDP 1 deficiency might be cause. Because excess of adenosine causes fatigue and dullness, exercise intolerance, muscle pain muscle cramping are seen.


 Treatment:

 Ribose daily is source of energy.


Genetics


MTHFR( METHYLENE TETRAHYDROFOLATE REDUCTASE ) MUTATION.


Increased homocysteine levels, decreased folate and b12 levels.

 Associated with digestive issues, migraines, depression, scoliosis, peripheral neuropathy. 


Treatment : 

Folate , vit b12, methionine, and 5 MTHF.


WNK mutation


It is serine threonine kinase which helps in regulation of action chloride cobtransporters.

 It is familial hyper kale ice hypertensive syndrome.


Hair loss


Degeneration of cervical spine , hip .


It may be spondylosis or juvenile idiopathic arthritis...



Resources


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

Davidson principals of medicine

Dr. Ryan medicine modules.

Wikipedia 

www.webmd.com

https://www.egl-eurofins.com






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