A 42 year 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
- Migraine with aura
- Sleeplessness
- Breathing difficulty
- Swelling
- Multiple falls
1. Migrain with aura associated with left sided decreased function
- ONSET: Sudden
- DURATION: Since 2 years of age
- Gradually progressive
- ASSOCIATED SYMPTOMS:
-Preceded by AURA associated with transient loss of vision and stuttering.
-Aura starts as a flicker and then eventually becomes a crescent that covers the entire center of vision.
- PAST HISTORY:
-It was also associated with stuttering and memory loss as well as loss of function of left side and an episode of CSF rhinorrhea from left nostril and had left sided headache.
- Trigger factors are obesity, parents being chain smoker, Depression, sleeping pills.
- PROBABLE CAUSES:
-Ischemic stroke
-Behects Disease
-Brain tumors
- INVESTIGATION:
- TREATMENT: Triptan
2. Sleep disturbances
- ONSET: Since birth
- DURATION OF SLEEP: 2-4 hrs and no REM sleep
- POSSIBLE CAUSES:
-G6PD Deficiency causes impairment of glycolysis thereby inhibiting glycine formation. Glycine is also an inhibitory neurotransmitter.
-AMPD1 Deficiency can cause sleep disturbances because adenosine is an inhibitory neurotransmitter.
-Chronic depression can also lead to insomnia
- INVESTIGATIONS:
- TREATMENT: L-Serine , Cimetidine
3. Breathing difficulty
- ONSET: since 1 year of age
- Repeated episodes of pneumonia and asthma
- PROBABLE CAUSES:
-Cystic fibrosis since she has repeated episodes of pneumonia, increased risk for crohn's disease, diabetes, fatty liver, osteoarthritis, depression and delayed milestones.
-To confirm the diagnosis we need to do genetic testing for CFTR mutation.
4. Swelling
- ONSET: since 1 year of age
- DURATION: approximately 40 years
- SITE: Face , Abdomen
- AGGRAVATING FACTORS:
-Eating fava beans
-Exercise
-Smoke
-Excess salt
consumption
- RELIEVING FACTORS: Rest and fasting
- PROBABLE CAUSES:
-Since childhood she has been on salt
diet which may cause water retention in the body and causing decreased sweating
and urination and also leading to the swelling of the body.
-Emotional stress, talking sulfa drugs
and antimalarial drugs and eating fava beans causing oxidative stress to the
body as she has G6PD Deficiency.
-Her blood profile suggesting elevated
auto monocytes and poor liver function tests with mild hemolysis could justify
the diagnosis of hemolytic anemia.
-Since she has G6PD deficiency it might have acted as a trigger for the hemolytic anemia causing right heart failure which lead to ascites and shortness of breath.
-Addison's disease due to low cortisol levels
- INVESTIGATIONS
-Hemogram
-Chest X ray
-ECG
-Liver function test
- TREATMENT:
-Avoid stress
-Do not consume fava beans, sulpha
drugs, antimalarials
5. Multiple f
- ONSET - since 4 years of age, still present
- ASSOCIATED COMPLAINS:
-History of multiple falls and pain
intolerance and fatigue
-Fracture of ankle
- PROBABLE CAUSES:
-AMPD1 deficiency causing muscle
weakness and left sided hemiplegia causing walking difficulty may lead to
instability causing multiple falls.
-Osteoarthritis could be responsible
for multiple fractures as she was positive for DIO2 gene
-CIPA (Congenital Intolerance to Pain
With Anhydrosis )
- INVESTIGATIONS:
-Genetic testing for CIPA(NTRK1 gene)
-Xray of lower limbs
- TREATMENT
-For AMPD1 deficiency, Ribose is taken
PROBABLE CONDITIONS she may have
? Congenital Adrenal Hyperplasia
It may be a possible case of CAH since
childhood as her 17 OH Pregnenolone and DHEAS are elevated which maybe due to 3-BHSD
enzyme deficiency which explains her craving for salt, delayed developmental
milestone, excessive hair growth since age 3, PCOS and her cortisol based diet.
? Fibromyalgia
As her mother has history of fibromyalgia,
she is at risk of developing it. Symptoms such as Rash associated with EVB
infection, Left ventricular enlargement, depression, anxiety, wide spread pain,
fatigue, cognitive difficulties(like fiber fog) with other comorbidities like
migraine, lower jaw pain suggestive of Fibromyalgia.
https://books.google.com/books/about/Fibromyalgia.html?id=ymJEUPnqqdsC
We need detail history regarding pain to
confirm the diagnosis as there is no diagnostic investigation for
fibromyalgia.
? Cystic fibrosis
https://www.healthline.com/health/cystic-fibrosis
Behects disease
As she has bleeding ankle, left sided
weakness, oral and vaginal ulcers
G6PD Deficiency and AMPD1 deficiency
Hemolytic
Anemia
CONCLUSION FROM GENETIC WORKUP:
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 issue.
CURRENT MEDICATIONS:
Pharmacological
- L-Serine 20 mg at night to improve sleep
- 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
Non pharmacological
CURRENT DIET:
- An apple once a day since many years.
- Now a days, 5% carbohydrates in diet, 95% other.
- Have tried many type of diets.
- Had been sick when followed dietitian a year back
- Real unprocessed food
- Olive oil - 1/2 cup daily approx.
ADDITIONAL HISTORY AND INVESTIGATIONS REQUIRED
- Detailed ENT and CNS examination
- Rash? generalize or localised? detailed inspection of whole body
- Fever ?
- PCOS treatment?
- Why only lefted sided hemiplegia?
- Why did she woke up in the middle of surgery?
- LASIK failure?
- CT MRI brain?
- Genetic testing for CTRF?
