14th May E log

I have been given this case to solve and interpret to enhace my competency and as an attempt to understand the topic of "patient clinical data analysis". You can find the entire clinical problem of the patient in this link https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html

This is my understanding of the case:

The problems that I found she was battling with the most are :

1. Even though she has gotten used to not being able to breathe properly, I would place her difficulty to breathe on the top.

2. Swelling on contact with smoke, ingestion of certain foods and instanly on exercising.

3.Migraine with aura

4. She doesnt urinate or sweat a lot.

Reasoning:

1. Asthma : I suspect asthma in this pateint as she has recurrent episodes of inability to breathe which is exacerbated on exercising in presence of smoke and ingestion of certain foods. It fits because of her predisposition to atopy. Also, she mentions that she has 'larger than average lungs' which is a pointer. I also thought of Cystic fibrosis because of her inability to breathe, frequent lung infections and salt cravings. But she doesnt have episodes of coughing with mucus.

2.Migraine with aura maybe due to hormonal fluctuations (she mentions exacerbations beofre her menstruation and when she used OCPs), lack of sleep, smoke, fasting and intake of excess salt also causes migraine.

3. Swelling could be due to water retention as she consumes a lot of salt or due to Hereditary Angioedema Syndrome since she swells up in the gut, face and fingers. HAS is triggered on emotional stress, physical activity, activity causing pressure changes in the body or any illnesses.

Provisional diagnosis and differentials :G6PD deficiency with AMPD 1 deficiency

1.Adrenal fatigue: insomnia, allergies, poor concentration, mental fog

2. 2. Basal cell nevus syndrome : frontal bossing, spinal problems, including scoliosis, had melanoma

3. 3. Cushing’s: bruise on leg, edematous or fat distribution more in abdomen area (rejected due to good result of Dexamethasone suppression test)

4. 4. Addisons: salt craving,low cortisol level in urine,low serum cortisol

5. 5 Fatty liver disease: raised AST and ALT, genetic predisposition, raised LDL

6. 6 Congenital Adrenal Hypoplasia (non classical) : Raised pregnenolone, DHEA raised, excessive hair growth from childhood, Polycystic ovaries, salt craving

7. 7.Fibromyalgia: improvement on ribose supplements, mother had it, pain in temporomandibular joint, tension headaches, fatigue and sleep disruption, aggravated on trauma (many falls and breaking of bones)

8. 8. Peripheral neuropathy: left hand and leg gave away, B12 deficiency present, inability to feel limb pain.

9. 9. Alopecia areata: hairloss on head and eyelashes, autoimmune condition.

AAlso, she's predisposed to allergies and her body is in an inflammatory state due to which there is high intolerance and swelling in reaction to food. Inflammatory state could be secondary to adrenal fatigue.

Suggested treatments:

1. Usage of Electronic Health Records by pharmacists and physicits for G-6PD deficiency is increasing in technologically advanced countries, so that the patient never recieves a drug which might cause oxidative stress.

2. Use of Triptans for headache and Ribose for exercise tolerance should be continued.

3. Diet should not include any trigger items.

Non pharmacological:

1. Cognitive behavioural therapy and Pain management would better her quality of life.

Positive history:

Birth to 1 year

Born with Jaundice. (congenital cause of anemia? enzyme deficiency? RBC abnormality? Rh incompatibility?)
Tongue tie and upper lip tie (operated for at age 13 and 14)
Large upper tori, difficulty in sleeping.(due to obstructive sleep apnea?)
only tolerated water and salty broth: intolerance to breast feeding. (might cause malnutriton or reduced immunity in future)
Swelling up of abdomen and face
brain fog and zoned out. sleep not more than 2-4 hrs
granny got custody: emotional stress?

2. 2 years :

Speaking sentences in 2 languages - 1 1/2 years
writing in a language- 2 1/2 (gifted?)

3. 3 years

Excessive hair growth on face/neck/toes (hirsuitism? precocious puberty? endocrine issues?Hypertrichosis excluded due to areas of hair growth)
inadequate sleep. bad appetite
within norms of height but low weight.

4. 4 years

Chronic UTI ( due to iron deficiency anemia?)
Kidney infections (related to UTI?)
Strep throat
Lung infections( could be and indicator for decreased immunity due to G6PD deficieny)
Multiples sprained ankles and knees
Severe reaction to Sulfa drugs ( G6PD deficiency pointer)
Severe headache ( since 2 to 32 years aggravated on menses and OCPs) (severe headaches in children are due to an Infection? severe stress or anxiety?lack of sleep? not getting enough sleep? )(Severe heaachde during menses or OCP usage is due to sudden drop of estrogen)
Clothes uncomfortable, Doesnt like physical contact, High pain tolerance, Can only focus on one thing. (Sensory Processing Disorder, ADHD)
Extreme anger and fighting if force feeding was tried.Sudden snaps preceeding migraine ( Bipolar Disorder ? ADHD?)

5. 12 years

Cervical degeneration and scoliosis

6. 15 years

Unbearabale headache, suicide attempt( Depressed?)
Admitted for for anorexia and force fed. Got violent. (Depression?)
Discharged after gaining 25lbs but mostly around face and abdomen (Cushing's pattern ?)
Force fed. Fasted in secret. (Anorexia nervosa)

7. 21 years

Ectopic pregnancy
woke up during surgery and remmebers choking on tube (Anesthesia awareness)
Retrovereted uterus found

8. 22 years

Diagnosed wtih PCOS.

9. 23 years

Hospitalized for 2 wees for severe kidney infection and pneumonia. (since she had a kidney disease when she was younger also, maybe a vesico-ureteric reflux?)

She mentions it was after a 100 mile bike ride so maybe due to holding in urine too long?

Type aB melanoma and 4 precancerous tissues emoved while in hospital.

10. 30 years:

Broke a leg during dancing (any relation with the previous history of multiple sprains of ankles and knees?)

11. 32 years

Severe reaction antimalarials (more hints towards G6PD deficiency)
Diarrhoea,vomitting,swelling (where?), brain felt sluggish (due to hemoltyic reaction?)
Later that year she got swine flu and pneumonia and got vaccinated against both. (scoliosis makes her prone to lung infections?)

12. 34 years

Migraines increased. Left hand became numb and left face felt ice cold sensation over cheek (aura of migraine) (numbess of hands could be due to cervical degeneration too)
When turned to left, felt like falling and spinning (Benign paroxysmal positional vertigo?)felt better in 2 weeks
Attacks of stuttering,loss of vision,loss of function of left side,memory loss ( stroke?)
fluid gush from nose on bending down (CSF rhinorhhea?associated with BPPV in some cases)
High post meal cortisol (allergy to particular food might cause rise in cortisol)

13. 35years

Failed LASIK surgery
Diagnosed dyslexic
Diagnosed with ADHD/Autism spectrum (as suspected)

14. Current issues

Frequent falls to left, left foot and hand gave away (peripheral neuropathy?B12 deficiency?AMPDI deficiency severe symptoms?)
Fell down the stairs and broke ankle (frequent bone accidents, brittle bones)
Require large amounts of salt (eletrolyte imbalance? dehydration?)
Poor stress response. Hair loss on head and eyelashes (Alopecia areata?PCOD?)
Left pain up to face
breathing struggle (Scoliosis, large tori could be the causes)
Craving for Salt and fats ( Lack of sleep?)
Intolerance from most of the food, smoke,exercise and emotional stress.
Slim in morning and "looks pregnant by noon" (maybe associated with disturbed cortisol levels due to durnal variation?)
Swelling on eating carbs (Complex Carbohydrate Intolerance?Inflammatroy state of body exaggerated by gluten?)

15. Her genetics predispose her to :

High homocysteine, low B12, and folate levels.
Risk of developing peanut allergy
Von Willebrand Disease type 1
Risk of Osteoarthritis
Higher risk for nocitine dependence and lower risk for cocaine dependence
Tardive Dyskinesia, ADHD, Alcohol dependance,Obesity, lower risk of postoperative nausea
Autoimmune thyroid disease and other autoimmune disorders
Glaucoma
increased liver fat and alcoholic liver disease
Alzeimer's
Crohn's disease
lung cancer,cluster headache,raised icp, diabetes, bipolar disorders, rheumatic arthitis

16. Heart rate

Her heart rate is seen increasing towards the evening which maybe due to Chronic sleep deprivation leading to prolonged stress.

17. Rashes

rashes usually reactivate EBV and warts.

18. Blood bruise

19. Blood reports: