A case of 42 year old female with multiple health events since birth:

I have 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 patients problem:

The problems in order of priority I found are:

1. Frequent fall to the left side.

2.sleep disturbances.

3.swelling-face and abdomen.

4.fatigue

5.reduced urine output and dark colored urine.

DETAILED EXPLANATION ABOUT COMPLAINTS:

1.FREQUENT FALL TO THE LEFT SIDE:

The patient complains of frequent falls to the left. Left foot and hand started giving out with numbness of left hand and pouring of ice water over left cheek during migraines. Severe cramps of left hand and unbearable feeling of spinning when turned to left .

May be due to muscle weakness caused by AMPD1 deficiency.

2.SLEEP DISTURBANCES:

Since birth and the duration of sleep is 2-4hours with no REM sleep.

Cause may be AMPD1 deficiency, G 6PD deficiency, psychiatry problem.

Improved after treated with L- Seine 20grams at night ,Ribose 2grams every hour in water .

3.SWELLING-FACE AND ABDOMEN:

These are aggrevated with emotional stress, smoke, exercise and relieved on rest and eating wrong food like fava beans.

Cause could be allergic reactions to fava beans, hemolytic anemia, G6PD deficiency, hypothyroidism, kidney infection, Cushing syndrome.

- hypersensitivity testing for allergy, renal function tests, thyroid function tests can be done.

Can avoid swelling by avoiding stress and possible allergen.

 

4.FATIGUE:

Which is aggravated on exerction and relieved on rest.

Causes could be hemolytic anemia, G6PD deficiency, AMNP1 deficiency, starving.

5.REDUCED URINE OUTPUT WITH DARK URINE: 

may be due to G6PD deficiency as hemolysis occuring due to destruction of RBC which leads to dark urine.

PAST HISTORY:

At birth -severe jaundice,tongue tie and upper lip tie.

At 2 years- onset of severe headache

At 4 years-Chronic UTI

                   Kidney infection

                   Lung infection

                   Multiple sprained ankle and  knee.

Severe mood disorder is seen.

At 12 years-diagnosed for cervical degeneration and scoliosis is seen.

At 15 years- suicidal tendencies present.

                     Diagnosed with anorexia

At 30 years-H/O of broken leg(??)

At 32 years- infected with swine flu.

At 34 years-Severe headache on left side which lead to vision loss.

Intermittent loss of function of left arm.

At 35 years- diagnosed with ADHD/autism spectrum disorder.

One year ago- h/o of fall - broken left ankle

OBSTETRIC HISTORY: 

She has a history of ectopic pregnancy.

MENSTRUAL HISTORY:

Menache at 14 years.

She is having severe head ache and abdominal pain during mensus and she is diagnosed with PCOS.

FAMILY HISTORY:

Mother is having fibromyalgia and father got heartattacks en early 40's.

DRUG HISTORY:

She is allergic to sulfa drugs and antimalarials.

SURGICAL HISTORY:

LASIK done at 35y3ars which is failed.

PERSONAL HISTORY:

Having apple once a day

Bowel and bladder movements are regular

Sleep is inadequate

Reduced appetite

No addictions.

INVESTIGATIONS DONE:

MRI and CT of spine.

Cortisol level-high DHEAS, high 17 hydroxy pregnenolone.

Test for EBV inactive.

Complete blood picture.

Lipid profile:

-diagnosed WITH AMNP1 deficiency and G6PD deficiency one year ago.

-she is diagnosed with BEHCET'S DISEASE.

TREATMENT:

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