A case of 42 year old patient with multiple health problems

42 year old women with multiple health events

I have given this case to solve and understand about " Patient clinical analysis " With given history and provided clinical investigations. 
history studied from https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1
Clinical problems in patient:
  • Migraine
  • Kidney dysfunction - oligouria
  • Swelling
  • Sleep disturbances
  • Left hand numbness
  • Poor vision
  • Broken leg
  • Autism
  • Intolerance to some kind of food
Reasons for problems:
From given data it could be from G 6 PD deficiency and AMPD 1 deficiency
Sleep deprivation is due reduce synthesis of amino acids like adenosine defiency which is inhibitory to brain. 

Kidney dysfunction is due to decrease in atp synthesis which also explains increase in intake of salt

Swelling is due to g6pd defiency

Others symtoms are due to genetic abnormalties like:Seattle type G6PD deficiency

AMPD1 - AMPD1 deficiency heterozygous

MTHFR - homozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levels

WNK1 mutation

HLA-DRA - 3x higher risk for developing a peanut allergy In populations of European ancestry

VWF - association with Von Willebrand disease type 1

DIO2 - 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.

CHRNA5 - higher risk for nicotine dependence, lower risk for cocaine dependence

ANKK1 - Tardive Diskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.


TG - 1.3x to 11.5x Increased risk of autoimmune thyroid disease

LOXL1 LOXL1-AS1 - common but 10x higher glaucoma risk in most (but not all) populations

PNPLA3 - increased liver fat, odds of alcoholic liver disease

BACE1 - 2x increased ALZ risk in ApoE4 carriers


BSN - 1.1x risk Crohn's Disease

Investigations:

 Complete blood picture

Complete urine analysis

Cortisol levels

Ecg

MRl 

X ray 

pharmocoloygical treatment:given

 Ribose

L - serene

Cimetidene

Tryptophan

Iron supplement
  

Non pharmacological treatment:
  
Avoid food which are intolerant

Avoid drugs which are intolerant

Avoid stress and heavy exercise

Meditation

Refer to psychiatry to avoid depression



 Differential diagnosis include:

Familial hemiplegic migraine

Multiple sclerosis

A beta lipoproteinemia
     


Futhure each symptom should be treated differently with specific drugs

And treatment for Behcets disease should also done

 

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