Patient clinical data analysis:-
           

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

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) 

History of presenting illness:- 

1)HEADACHE - She complained of severe headaches since age 2 which are later diagnosed as migraine with aura at the age of 32. The reason for her migraine may be her sleeplessness and anorexia. For migraine she has been using triptans. 

• Associated with aura - it starts as a small flicker in the upper left and then becomes crescent and then covers the entire vision
• Onset-Sudden
• Progression -gradually progressive 
• Duration-since 40 years 
• Site-towards the left side 
• Investigations:
  • CT and MRI of the brain to detect the tumours, stroke
  • CSF analysis to detect the infections
  • EEG to detect seizures
  • Detect the intracranial pressure

 

2) URINARY TRACT INFECTIONS  - At the age of 4 she had an attack of streptococcal throat infection which may be the reason for kidney infection ( PSGN ). She mention that she had a tipped uterus which might be the reason for recurrent UTI. This may have a retrograde progress and lead to kidney infections.

  

3) SLEEP - She sleeps for 2-4 hours only once in a day and sometimes twice without REM. She has been having this issue since birth. For her sleep issues she took L-serine and cimetidine which helped her most with the sleep.

•  Onset-since birth
• Duration of sleep- 2 to 4 hrs, REM type

 

4) MOOD DISORDER - Present since birth. Temper tantrum, irrational anxiety, anger , fear, attempt to suicide are some of her mood disorder symptoms.

  

5) SENSORY DISORDER - Clothes and physical contact made her uncomfortable. She had higher pain tolerance but cannot focus on pain

6)ANEMIA - She is diagnosed with hemolytic anemia due to G6PD deficiency. But her Hbcount RBC count and bilirubin levels are normal.

7)SWELLING - Her face ,neck and abdomen swells up on intake of food, exposure to smoke, slight exercise and stress. Swelling relives on fasting and urinating large amounts . Ribose and cimetidine also helped in reliving in swelling. She almost never sweats and cimetidine made her sweat.

 

• Onset: since one year of age
• progression-it is intermittent
• Duration-since one year of age
• site-face, abdomen
• Aggravating factors-Emotional stress, eating fava beans, exercise, smoke
• Relieving factors -rest
• associated with shortness of breath, decreased urination, dark colour of urine on exertion 
• Investigations done in this case :
  • Hemogram -shows anaemia 
  • ECG-shows right heart failure 
  • SGPT, SGOT -elevated suggestive of haemolysis
  • CUE-to show infection
  • LDH to detect the haemolysis
  • HEINZ BODIES in RBC on complete blood filmG6PD test

8)  AMPD1 deficiency is present. This is responsible for her easy exertion on slight exercise.

 

9) LUNG INFECTION - First episode at the age of 4 and got hospitalized for more than 3 times and got vaccinated for pneumonia at the age of 28.

 

10)LEFT SIDE HEMI PARASIS - Associated with stuttering and memory loss would come and go for month 

11) BEHCETS - She is diagnosed with behcets recently with might be the cause of her migraine.

 

12) AUTISM - She is diagnosed with autism at the age of 35.

13) RASHES ON FACE - Usually occurs 2-4 times a year with other issues and at the same time my warts and EBV reactivate. EBV may cause dermatomyositis which may be responsible for her ankle sprain and skin rash.

 

14) PCOS -

  1. dysmenorrhea 

  2.Ectopic pregnancy

  3.Increased hair loss

Bipolar disorders, anxiety, depression

15) INCREASED TOLERANCE TO PAIN. 

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.

PAST HISTORY:- 

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:-

1)Both parents were chain smokers.

2)Mother has diagnosed for fibromyalgia, which may raise a suspicion of fibromyalgia in our patient, coz of the symptoms(altered sleep, mood disturbances, muscle weakness) and risk factors (female preponderance, family history)

3)Father had a heart attack at the age of 40.

4)Grand father had an early death due to some cardiac issues.

5)Grand mother had an issue of waking up during the surgery,  which is also seen in our patient.

     DIET :- 

•an apple once a day. Mixed diet . Had been sick when followed dietician a year back.
Olive oil - 1/2 cup daily approx.

GENETICS:- 

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

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

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

ANKK1 - Tardive Dyskinesia 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

ALLERGIC HISTORY:- 

Patient is allergic to flava beans , sulla drugs and anti malarials .

TREATMENT HISTORY :- 

Present treatment:- 

 •L-Serine 20 gm at night for sleep disturbances 

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

•400mg cimetidine 

•600mg NAC 

•Iron folate 500% of RDA

• Creatinine monohydrate

• Triptans:- MIGRAINE

OTHER OPTIONS :- 

• Avoid flavabeans and sulphadrugs and excess salt consumption

• KETO DIET 

• NAC

• AVOID OXIDANTS ( fructose plus antioxidants )

• VITAMIN B COMPLEX

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 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.) 

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

Queries:- 

• She was diagnosed with hemolytic anemia but none of lab reports showed signs of hemolysis.
• Rapid fluctuations in her weight . Why is she swelling up on eating. ?
• Swelling which she has been complaining has not been explained properly. was is a kind of pitting or nonpitting type or is associated with any kind of rash 
• Her urge to salt intake inspite of her anhydrosis and decreased urination. Where is all her salt going if she is not sweating and urinating. There should be some sort of hypernatriemia. and why is it not happening.

                                                                                                                                    THANK YOU.