42 Year old woman with multiple health events since birth

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) Headache

2) Swelling

3) Sleep disturbances

4) Mood disorders

1.Headache:
-present since age 2 years
-became worse with menarche and with the usage of nuvaring
-associated with visual aura before the attack(scotomas, flashes of light,seeing rainbow colors)
-associated with giddiness, weakness/numbness of left half of the body
So,the cause for headche could be HEMIPLEGIC MIGRAINE.

Differential diagnosis: 
   Stroke, Brain tumors
  
Investigations:
  CT,MRI- to rule out stroke, brain tumors
  
Treatment:
  -She is taking triptamines in the form of     microdosing magic mushrooms
  -avoid triggering factors like caffeine, physical activity, strong odors etc
MIGRAINE:
 Reason for it's aggaravation during menstruation:
   -withdrawal of oestrogen as a part of the normal menstrual cycle
   -normal release of prostaglandins during first 48hrs of menstruation

2.SWELLING:
  - mostly confined to face and abdomen
 - present since 1 year age
 - aggravated with smoking, exercise,fava beans, after taking sulfa drugs, antimalarial drugs
 - relieved by cimetidine(400 mg)
 - reduced after urinating (with L Serine)
 - h/o dark or yellow colored urine after exercise or extreme stress
 
Differential diagnosis of swelling:
 - Angioedema
 - conenital heart disease
 - renal disease
 - G6PD deficiency

H/o dark urine(hemolysis),features such as aggravation of swelling with favabeans,sulfa drugs, antimalarials and h/o  severe jaundice at birth are more suggestive of G6PD deficiency.
So, the cause for swelling could be G6PD deficiency.

Further history and investigations:
 - there is no history of allergies, so angioedema can be ruled out
 - ECG,Chest X-ray: to rule out congenital heart disease

Treatment:
- she is taking Cimetidine -400mg
- blood transfusions may be required in severe cases
- hemolytic episodes and anemia can be prevented by avoiding certain triggers
     - fava beans
     - sulfa drugs
     - extreme stress or exercise
     - antimalarial drugs like primaquine.
 
   The reason for swelling in G6PD deficiency:
- In G6PD deficiency, massive intravascular hemolysis can cause renal failure, results in retention of fluid leads to facial puffiness and tissue edema.

3.SLEEP DISTURBANCES:
   -Present since birth
   -Sleep was never more than 2-4hrs at a (no REM sleep)
   1.The reason for sleep disturbances could be G6PD deficiency: G6PD deficiency results in impaired glycolysis. As a result Glycine (inhibitory neurotransmitter) is not produced.
   2. As she was diagnosed with ADHD(Attention Deficit Hyperkinetic Disorder), it could also be a reason for sleep disturbances.

 Treatment:
   - she is taking L Serine(orally)
    L Serine converts to Glycine invivo, which is an inhibitory neurotransmitter.


4.MOOD DISORDERS:
  -present since childhood 
  -aggravated over time
  -extremely angry and fighting if anyone tried to force feed.
  -temper tantrums for no reason
  There is a possible association of G6PD deficiency with acute psychosis, catatonic schizophrenia, and bipolar disorders.
https://www.google.com/url?sa=t&source=web&rct=j&url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573579/&ved=2ahUKEwj167PppLjpAhU3zTgGHVl3CucQFjADegQIARAB&usg=AOvVaw3Fz4uikJNNfLLscFQo7jvd&cshid=1589629098741

Other features:
-Craving for salt:
kidney requires ATP for absorption of ions. In G6PD deficiency,there is decreased production of NADPH and ATPs. As there is no energy, it results in loosing lots of ions. That's why she consume extra salt to maintain water and electrolyte balance.
-Rashes on face:
 usually 2-4 times a year
 comes at the time her warts and EBV reactivate
 worsened after taking Cimetidine
 but, there were no rashes in past 6 months


As most of the clinical features are due to deficiency of G6PD, so the major diagnosis of case is G6PD deficiency.
  

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