GENERAL MEDICINE case presentation by R.Sanjay138

A 42 yr old Women With Multiple Health Events

May 16, 2020

            R SANJAY 

              ROLL NO : 138 ki

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)

JAUNDICE at birth which was persistent for sometime 

May indicate HAEMOLYTIC ANAEMIA due to erythroblastosis foetalis which causes destruction of red blood cells in pregnancy 

SLEEPLESSNESS: 
 (since birth which might have occurred due to   G6PD Deficiency or AMPD1 deficiency)

    {These diagnoses were suspected based on other symptoms like:

Anaemia, Exacerbation of symptoms after consumption of flava beans and antiviral drugs for G6PD deficiency.
Muscle dysfunction for AMPD1 deficiency.}

OEDEMA (Fluctuating)

(Overview of G6PD deficiency:           https://medlineplus.gov/ency/article/000528.htm)
(Edema was extremely fluctuating within days and trigger points as mentioned by the patient were Emotional stress, Eating wrong food, Exercise in excess, Smoke.
It relieved spontaneously.
Associated with SOB and dark urine.
These features are suggestive of G6PD deficiency which causes damage to the organs like kidney by free radicals because of lack of NADPH.
Also kidney needs a lot of energy for ions active transport and water balance in the body. The Edema have occurred because of excessive loss of ions.
Also the Hemolysis caused because of G6PD deficiency is responsible for fatigue and SOB because of reduced red blood cell count. The same must have been the reason for dark coloured urine also as complained by the patient.)

SYMPTOMS OF NUEROLOGICAL ORIGIN 
(The patient gave a history of delayed development associated with multiple neurological symptoms of Aggression, Anxiety, Sensory disorders, Severe headaches.
Her neurological symptoms can be attributed to Glycine deficiency due to G6PD deficiency - This might cause cerebral Edema.
Her head aches were preceded by Aura and associated with numbness and vertigo. She had a history of CSF rhinorrhoea.
Oxidative damage to the brain because of depleted NADPH might be responsible.)

FATIGUE 
(This must have caused directly because of haemolytic anaemia and less red blood cell count.]
AMPD1 deficiency causing muscle weakness because OD decreased aerobic input and increased anaerobic output.                                                                                                                  Following are some other conditions noticed:

• She had excessive body hair at 3 years 
• Increased pain tolerance - WNK1 Hereditary Sensory Neuropathy.
• MTHFR gene - Hyperhomocystinemia
• VWF mutation - bleeding disorders, Menstrual bleeding.
• ANKK1 - ADHD
• Increased risk of opportunistic infections 
• Genital ulcers 
• Uveitis 

Family history:
Mother was diagnosed for fibromyalgia.

Father had heart attack in 40s.

Grand father suffered from early death 
There is an increased familial risk of cardio vascular diseases 

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 level 

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 - Increased risk of osteoarthritis and bipolar disorder 

CHRNA5 - Increased risk for nicotine dependence and decreased risk for cocaine dependance 

ANKK1 - Tardive Diskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.

TG - Auto immune thyroiditis may develop due to own antibodies acting on the thyroid 

LOXL1 LOXL1-AS1 - common but 10x higher glaucoma risk in most (but not all) populations

PNPLA3 - liver fat increase and alcoholic liver disease may increase 

BACE1 - increased ALZ risk in ApoE4 carriers

BSN -gene linked to chrons 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

GENOME SEQUENCING GIVES US DETAILED DISCRIPTION OF THE CONDITIONS THE WOMAN IS AT RISK OF DEVELOPING due to gene mutation or appearance of other genes which are physiologically not present 

The symptoms can be treated by
           
         TOPICAL THERAPY :
                 
                 a) Creams for the oral and genital ulcers
                 b) Eye drops for uveitis

        SYSTEMIC THERAPY 

                 a) Immunosuppressants like Infliximab.
                 b) High dose corticosteroids.
                 c) Colchicine can be used for genital ulcers but cannot be used here because of her G6PD deficiency.
Generalized treatment measures to be followed include 
 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 supplements for ANAEMIA 

10. antioxidant supplement pycnogenol 

11.cimetidine for swelling instead of NSAIDS

12. NAC