A 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..

Following is my analysis of this patient's problem:

The problems in order of priority I found are :

1. Swelling of the body
2. Headaches
3. Shortness of breath 
4. Sleep deprivation 
5. Left sided weakness 
6. Oliguria
7. Exercise induced fatigue 
8. Rash

SWELLING OF THE BODY

She complains of swelling from age of 1yr till present time which is most commonly seen in the regions of face , neck & abdomen ; whenever she eats wrong type , emotional stress , exercise , smoke.

Reasons could be - 
  • As she is diagnosed with G6PD deficiency, haemolytic crisis can be attributed. It is a X-linked intermediate disease. HMP shunt pathway is affected in this condition where there is decreased production of NADPH. It maintains the levels of reduced glutathione which in turn maintains the integrity of RBC. If these reduced glutathione levels are low then the RBC become fragile and when they were subjected to oxidative stress undergo haemolysis. We can see dark coloured urine as an evidence of haemolysis.
  • As she complains of  swelling on eating wrong type such as fact beans which is acting like a triggering factor for G6PD deficiency.
Differential diagnosis could be Angioedema in this case.

Investigations done in this case are 
Haemogram - showing anaemia
ECG - showing the signs of right heart failure
CXR - showing left atrial enlargement 
SGPT & SGOT - elevated suggesting haemolysis 
CUE - showing infection 

Further investigations required are - 
LDH - should be elevated to detect haemolysis 
Total Bilirubin - should be elevated
Reticulocyte count - elevated
Urobilinogen
Heinz bodies on complete blood film
Beutler Fluoroscent Spot test which rapidly identifies NADPH production by G6PD under UV light
Haptoglobin - decreased in haemolysis 
Direct Coomb’s test 
Skin tests for allergy 

Treatments taken are - CIMETIDINE for swelling 

Treatments recommended are - 
Avoidance of stress
Avoidance of any kind of triggers of G6PD deficiency 
Blood transfusions if required 

HEADACHES 

She is complaining of headache from 2yr of age till now which is of 40 yrs duration approx. It is gradually progressive in intensity.
Site - more common in the left side.
It is been preceded by Aura and associated with numbness of left hand and left face.
She told that it became worse at 34yrs of age & eventually lost her vision but relieved by itself

Reasons could be -
  • Hemiplegic migraine
  • Transient Ischemic Attack (but less likely to have aura)
  • Infections like meningitis, encephalitis (should have fever,rash)
  • Brain tumours
  • Metabolic disturbances like folate level imbalance, high homocysteine levels (MTHFR deficiency)
Investigations recommended -
CT & MRI of brain
EEG
CSF analysis for infections
Magnetic resonance angiography for TIA

Treatment taken are -
Triptans 
Nattokinase which brought great change in her symptoms

Recommended treatment modalities are -
Avoidance of triggers like stress , light 
Ergots , NSAIDs etc.,
Erenumab which is a monoclonal antibody against CGRP

SHORTNESS OF BREATH

She complains of  not able to breath from very young age & sometimes can barely breath

Reasons could be -
  • Right heart failure because of haemolysis from G6PD deficiency
  • Hiatal hernia 
  • Allergic reactions......???
  • Anxiety disorder as she suddenly wakes during sleep can also cause it
  • Asthma....???
Investigations recommended are -
BNP levels to rule or heart failure 
Chest X-ray etc.,

Treatment recommended are
Remove the underlying cause 
Oxygen therapy 
Budesonide nebulization for asthma

SLEEP DEPRIVATION 

She complains of not able to sleep since childhood where she can barely sleep 2-4 hrs a day with no REM sleep

Reasons could be 
  • G6PD deficiency impairing glycolysis leading to decreased formation of glycine which is a inhibitory neurotransmitter 
  • AMPD1 deficiency 
Treatment taken is
L - serine which works like glycine in brain and she has a better improvement on her sleep after taking
Cimetidine 

LEFT SIDED WEAKNESS 

Numbness in the left side of face , loss of function on left side of body
which are occurring at the time of migraine attacks 
Possible diagnosis could be due to Hemiplegic Migraine 

OLIGURIA 

It is probably believed to be caused due to oxidative stress occurring in G6PD deficiency which explains reduced NADPH production and loss of ions causing decreased urination associated with coke colour

Other causes of oliguria could be 
Physical trauma
Infections
Shock

Investigations recommended are -
Urine output 
Urine examination 
USG / CT abdomen
Cystoscopy

Treatment recommended are -
Increase fluid intake or IV fluids if emergency 
Antimicrobials for infection 
Furosemide if required 

EXERCISE INDUCED FATIGUE 

She even complains of easily getting tired immediately after exercise 

Reasons could be
  • AMPD1 deficiency which causes lack of ATP 
  • Oxidative stress from G6PD deficiency 
Investigations recommended are -
Ammonia levels (since not increased in AMPD1 deficiency)

Treatment recommended are -
Ribose 0.2 g/kg daily with hourly dosing provides direct source of energy for cells in case of exertion.

RASH

She has rashes all over the face.

Reason is - she has been diagnosed with Behçet’s disease , an autoimmune disorder causing inflammation of blood vessels which is leading to rashes , mouth & genital sores , blurred vision.

Treatment recommended are -
To ease the symptoms
High dose corticosteroids 
Anti-TNF Alfa like Infliximab
Mouthwash , Eye drops for relief

OTHER PROBLEMS 

1. Increased pain tolerance may be due to WNK1 mutation causing HSAN2 deficiency 
2. VWF mutation leading to heavy menstrual bleeding
3. PCOS causing ectopic pregnancy & hair loss
4. MTHFR deficiency associated with migraines , depression , digestive issues , anxiety , bipolar disorder,  
    peripheral neuropathy , scoliosis 
5. Degenerative spine , hip & knee problems 

My recommendation is that she should undergo whole genome sequencing to dig out other mutations

Reference from :
Wiki




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