Case of 42yr old female with multiple health events

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..https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1

Following is my analysis of this patient's problem:

THE PROBLEMS IN ORDER OF PRIORITY I FOUND ARE:-

1) Frequently fall to the left side 

2) Requires large amount of salts(4-5spoons per day) not to swell body and face

3)Swelling from emotional stress, eating the wrong thing, exercise, smok

4)Muscle weakness

5)Sleep was bad with 2-4 hours with nearly no REM sleep

And the the reason for problem

✓FREQUENT FALL TO THE LEFT SIDE:-

The patient currently complains of frequent falls to the left. Left foot and left hand started giving out.

Unbearable feeling of spinning when turned to left. 

Severe cramping of left arm

Sometimes complete loss of function on the left side. 

Numbness of left hand and feeling of someone pouring ice Water over left face during migraine attacks.

• This might be due to muscle weakness caused my AMPD1 deficiency 
• Hemiplegic migraine is another probable diagnosis

✓  REDUCED SLEEP

• ONSET: Since birth
• DURATION OF SLEEP: 2-4 hrs and no REM sleep
• POSSIBLE CAUSES:
• G6PD Deficiency impaired the glycolysis so glycine is not formed well . Glycine is also an inhibitory neurotransmitter.
• AMPD1 Deficiency can cause sleep disturbances because Adenosine is an inhibitory neurotransmitter so it should help in sleep.
• MEDICATIONS TAKEN: L-Serine , Cimetidine

   ✓  SWELLING ON FACE AND ABDOMEN

• ONSET: since 1 year of age
• DURATION: approximately 40 years
• AGGRAVATING FACTORS:Emotional Stress , Eating wrong food such as Fava beans ,Exercise , Smoke
• POSSIBLE CAUSES:
• Hemolytic anaemia could have led to right heart failure thus leading to pulmonary hypertension causing shortness of breath
• emotional stress and eating fava beans because she has G6PD Deficiency.
• This anaemia could be responsible for kidney infections as G6PD is required for producing NADPH which in turn is needed by the kidneys for their functioning. In G6PD deficiency, she could have had low NAPDH levels and thus kidney infections.
• TREATMENT:
  • Avoid stress
  • Do not consume fava beans, sulpha drugs, antimalarials 

  
  

✓ MUSCLE WEAKNESS

Muscle Weakness

She develops muscle weakness fatigue on exertion. 

Differential Diagnosis

• AMPD-1 deficiency 
• Anemia

AMPD-1 Deficiency

It is inherited autosomal recessive disorder caused due to mutations in AMPD-1 gene. This gene makes enzyme AMP deaminase which plays a role in producing energy in skeletal muscles. Mutations in this gene disturbs the function of AMP deaminase leading to muscle problems.

Investigations

Genetic test: She was diagnosed for AMPD-1 deficiency heterzygous.

Treatment

She has been taking ribose - 2grams every hour in water.

Other medications which can be used are citrate monohydrate.

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.

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,

 

Treatment received till now :-

• L-Serine 20 mg at night to improve sleep

ON 1st DAY OF L-SERINE

• Ribose 2 gm every hour with water
• Cimetidine 400 mg to reduce swelling and in reducing androgens
• NAC 600 mg to increase glutathione antioxidants 
  
• Iron folate 500% of rda

TREATMENT OPTIONS:-

•Treatment of symptoms 

•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 

✓Recently ,she is diagnosed with BEHCETS DISEASE.  where the autoimmune inflammation in the blood

 vessels is responsible for formation of clots and ischemic disease which may explain the left sided symptoms.