A 42 year old female with multiple complaints since childhood

DEMOGRAPHIC DETAILS:

A 42year old female patient,came  with severe edema along with G6PD& AMPD1 deficiency.

CHIEF COMPLAINTS.

1) Frequent falls to the left. Left foot started giving out as well as hand. one fall down stairs sprained and broke ankle (last year) X-ray below. Poor stress response.

2) Swelling/ hair loss (head and eyelashes) Fatigue. Left jaw pain up into face.

3) Breathing difficulties.

4)intolerance from most foods, smoke.  

5)Always less urination which increase when fasting.

 6)Sleep was bad with 2-4 hours.

Drug history:

1) L-Serine 20 gm at night, 

2)Ribose 2 gm every hour in water, if any major exercise or exertion.

3)400mg cimitidine

4)600mg NAC

5)Iron folate 500% of RDA 

PATIENT HISTORY.(main points)

Birth - 1 year.

Severe Jaundice

Did not sleep. (very less, 2-4 hours only once in a day)

3 Year

Began shaving. Excessive hair growth on face/neck/toes/ and legs.

Still only sleeping 2-3 hours.

4 Years

Chronic UTI

Kidney infections

Strep throat

Lung infections

Multiple sprained ankles and knees.

(hospitalized 3 times for above issues as a kid and once as an adult later).

Since being vaccinated for pneumonia at age 28 no hospitalization for lung issues.

Severe reaction to sulfa drugs (Given as infant, mother said).

Severe headaches (since age 2).

Migraines entire life- interfered with school life and still have them.

12 years age - got diagnosed for cervical degeneration and scoliosis seen on x-rays for lung infection

15 year age -  headache severity increased to the point unable to get out of bed- forced to go to school. Attempted suicide. Put in managed care- having very difficult situations.

 began to gain weight.Was about 95 lbs at 5ʼ4 inches .

21 year age- ectopic pregnancy. Fearful of docs after past experience and had to pass out before being rushed for surgery. 

After surgery, scar revision/wound debridement- again awoke during surgery.

22 year age- chronic abdominal pain around periods. CT showed multiple ovarian cysts- diagnosed. PCOS.

23 year age- Hospitalized for 2 weeks for severe (worst ever) kidney infection and pneumonia at the same time.

Type aB melanoma and 4 precancerous tissues removed seen while in hospital.

24 year age- worsening migraines, ovarian cysts and pain but bearable.

32 year age- Severe reaction to antimalarials- was in remote Ethiopia (was NGO trip and then stayed longer to explore and visit friends.)

35 year age- after “failed” LASIK for her poorvision.

35 year age- Diagnosed adhd/autism spectrum by therapist and psychiatrist.

34 year age- Migraines increased. Left hand going numb probably potential hemiplegic migraine was at play. Had a dose of triptans.

 genetic test done last year having G6PD deficiency and AMPD1 Deficiency.

Diet

an apple once a day,

Have tried many type of diets.

Had been sick when followed dietician a year back.

Olive oil - 1/2 cup daily approx.

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

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,

INVESTIGATIONS:

Heart Rate from a recent normal day 83 beats per minute.

EEG REPORT : 



On 1st day L-Serine

Edema changes within a week

1 week apart



1 Day apart 

Infant (frontal bossing showing high ICP?)





MRI CT SPINE:



Fracture (Broke other ankle again last June after falling. Was put in walking boot.)

Rashes on Face (Usually 2-4 times a year. Past 6 months have not had one.) 



How you know its EBV in your case?getting labs no EBV active.

Various Lab. records from last year



DIAGNOSIS. ANY recent episode to oxidants.. yes. Fava beans consumption.

Treatment.

It is a genetic disorder so no cure.

Treatment of symptoms can be done

Avoid triggers like oxidants 

If Hemolytic episode is seen then hydration followed by blood transfusion based on severity of anemia.

Some of the treatment options

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 

Advice: advanced Diagnostic modality like Whole genome sequencing must be done.