42 year old women 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 treatment.

Original findings of the case link below:

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



Main complaints:
1.Swelling
2.Increased pain tolerance
3.Sleep deprivation
4.Decreased frequency of urination

Complaints in detail history:
1.SWELLING: 
Onset: present since one year age
Mostly confined to face and abdomen

Aggrevating factors: Exercise, smoking, some foods like favabeans and on taking drugs like anti malarials, sulfa drugs

Relived by Cimetidine
She had history of dark urine 
 
Differential diagnosis could be
Angioedema 
Congenital heart disease
Renal failure 
G6PD deficiency
 
On history she had dark urine whick is suggestive of UTI or G6PD deficiency
And swelling on anti malarials sulfa drugs fava beans is suggestive of G6PD deficiency 
We can rule out angioedema as she has no history of allergies

Investigations done
CBP shows she is anaemic
AST and ALT increased
Chest x ray shows left atrial enlargement
 

Further investigations
1.Ldh levels
2.bilirubin levels
3.peripheral blood smear


Treatment
She is on medication of Cimetidine
Control of triggers which cause swelling. 

2.increased pain tolerance
Onset: since 4 years still present

Associated complaints
Multiple fractures
Fracture of knee

Probably diagnosis
Osteoarthritis
Pcod may be reason because of low estrogen 
CIPA congenital intolerance to pain with anhydrosis

3.Sleep deprivation
Onset: 
Since birth
Duration of sleep 2 to 4 hours
Probable causes are G6PD deficiency in this there will be impaired glycolysis so glycine is inhibitory NT
AMPDI deficiency
 Treatment :she is on medication of serine and Cemitidine

4.Decreased frequency of  urination probably due to G6PD deficiency in this there is reduced production of NADPH and lack of ions which cause decrease in urinary output and dark color urine. 
Other causes could be physical trauma, infection 
Investigations : urinary output 
CUE
CT abdomen
Blood test
Treatment :increased fluid intake, diuretics, anti microbials in case of infection. 







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