Woman with multiple health events

Avirneni Vaishnavi 

Roll no. 12 | 8th semester 

This case was given to me in a an attempt to understand “Patient Clinical Data Analysis”
You can find the entire real patient clinical problem here (https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1)
Following is my analysis of the patients problem-
The patient had multiple problems since birth.

1. Jaundice at birth associated with other congenital malformations-
This rises the suspicion of Hemolysis at birth.

2. Sleeplessness
She had sleep disturbances since birth which might have occurred due to G6PD Deficiency (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397399/) or AMPD1 Deficiency (https://www.ncbi.nlm.nih.gov/pubmed/264392.
These diagnoses were suspected based on other symptoms like:
Anaemia, Exacerbation of symptoms after consumption of flava beans and antiviral drugs for G6PD deficiency.
Muscle dysfunction for AMPD1 deficiency.
Treatment:
L serine (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155056/)
Cimetidine
Adenosine

3. Fluctuating Edema 
Edema was extremely fluctuating within days and trigger points as mentioned by the patient were Emotional stress, Eating wrong food, Exercise in excess, Smoke.
It relieved spontaneously.
Associated with SOB and dark urine.
These features are suggestive of G6PD deficiency which causes damage to the organs like kidney by free radicals because of lack of NADPH.
Also kidney needs a lot of energy for ions active transport and water balance in the body. The Edema have occurred because of excessive loss of ions.
Also the Hemolysis caused because of G6PD deficiency is responsible for fatigue and SOB because of reduced red blood cell count. The same must have been the reason for dark coloured urine also as complained by the patient.
Treatment:
Avoid triggers
Serine
Compensation for ion loss by consuming more salts.

4. Neurological Symptoms
The patient gave a history of delayed development associated with multiple neurological symptoms of Aggression, Anxiety, Sensory disorders, Severe headaches.
Her neurological symptoms can be attributed to Glycine deficiency due to G6PD deficiency - This might cause cerebral Edema. (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757259/)
Her head aches were preceded by Aura and associated with numbness and vertigo. She had a history of CSF rhinorrhoea.
Oxidative damage to the brain because of depleted NADPH might be responsible.
Treatment:
Triptans - For Migraines

5. Fatigue
This must have caused directly because of haemolytic anaemia and less red blood cell count.]
AMPD1 deficiency causing muscle weakness because OD decreased aerobic input and increased anaerobic output. (https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency)
Treatment:
Adenosine - Improves ATP.
Ribose has changed her daily ability to function.

Other points -

• She had excessive body hair at 3 years which might be because of PCOS. Further she complained of dysmenorrhea, Ectopic pregnancy and Ovarian cysts.
• Increased pain tolerance - WNK1 Hereditary Sensory Neuropathy.
• MTHFR gene - Hyperhomocystinemia
• VWF mutation - bleeding disorders, Menstrual bleeding.
• ANKK1 - ADHD
• Increased risk of infections (https://www.ncbi.nlm.nih.gov/pubmed/27458052).