42 year old lady with multiple health problems 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.