Gẻneral medicine

Following is my analysis of the 42 year old female  patient multiple problems which she had since birth



(Overview of G6PD deficiency:      
(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.)
POSSIBLE TRIGGERS IN THIS PATIENT ARE:
  • Infections:recurrent UTI and pneumonia infections
  • Severe reaction to antimalarials
  • Severe reaction to sulfa drugs
  • Severe edema after FAVA BEANS ingestion
SUGGESTED TREATMENT
  • Avoiding oxidative stress.
  • Vaccination against pneumonia is taken which helped in preventing infection induced attacks of hemolysis to some extent.
  • In acute phases, blood transfusion may be necessary.
  • Apple has good antioxidant properties which the patient is taking daily.

*Neurological Symptoms
(The patient gave a history of delayed development associated with multiple neurological symptoms of Aggression, Anxiety, Sensory disorders, Severe headaches.

Symptoms of Hemiplegic Migraine

  • Motor weakness on one side of the body (Hemiplegia)
  • Headache
  • Other typical aura symptoms – vision changes (sparkles, shimmers, visual field defects), numbness, tingling, trouble speaking
  • Fever
  • Impaired consciousness ranging from confusion to profound coma
  • Ataxia (defective muscle coordination)
  • Nausea and/or vomiting
  • Photophobia (increased sensitivity to sound) and/or photophobia (increased sensitivity to light) 
SLEEP DEPRIVATION
Low REM sleep 
Less duration : 2-4 hours
Causes for sleep problems:low NADPH ,low glycine and AMPD1 deficiency( increased adenosine levels).
Autistic Spectrum Disorder may also result in may result in change in neurotransmitter level which might be the cause for the ADHD(along with ANKK1 Mutation) and Sleep depreviation 

*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.   
RIBOSE is used to decrease the post exertional muscle stiffness
https://www.ncbi.nlm.nih.gov/pubmed/1776826 

MTHFR (Methylene tetrahydrofolate reductase) MUTATION
Increased homocysteine levels,decreased folate and B12 levels. 
Associated with:Digestive issues,migraines,depression, anxiety,bipolar disease,peripheral neuropathy and scoliosis.

TREATMENT:Folate,Vitamin B6,12 supplements,methionine and 5-MTHF.
                                                                                                             
Following are some other conditions noticed:
  • 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.
  • VWF mutation - bleeding disorders, Menstrual bleeding.
  • ANKK1 - ADHD
  • Increased risk of infections
Family history:
Mother was diagnosed for fibromyalgia.

Father had heart attack in 40s.

Grand father had early death
Genetics:

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
AMPD1 deficiency

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

Increased risk for Alzheimers, ADHD, Autoimmune thyroid & other autoimmune disorders, lung cancer, cluster headache, Obesity, raised ICP, Diabetes, RA, Bipolar disorders, Lung cancer and issues

CONCLUSION - As of now the patient is doing better than earlier with regular symptomatic treatment which she has been following since then but after the complete physical and neurological examinations along with all the further imaging studies of the patient its better to move ahead with any required alteration in the high priority treatment plan for an effective outcome and response from the patient. 

Treatment:
 1- Ribose diet
2- L serine for sleep
3- cutting oxidative stress 
4.vitamin B complex
5.antioxidant vitamins
6.fructose+antioxdants 
7 salt + butter
8.keto diet.
9. iron folate supplemets.
10. antioxidant supplement pycnogenol 
11.cimetidine for swelling - tried and helped
12. NAC