E LOG CASE 1 , General Medicine Case discussion

CASE OF 42 YEAR OLD FEMALE WITH MULTIPLE HEALTH EVENTS SINCE BIRTH  

By M.Sai Surya 

Roll.no :100 

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 icluding 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 classworkdecjan.blogspot.com

Following is my analysis of the patient's problem:

CHIEF COMPLAINTS:

The problems in order of priority are: 

▪️Swelling -confined to face n abdomen

▪️Head ache - migraine with aura

▪️Shortness of breath

▪️Left sided weakness

▪️Deprivation of sleep

▪️Fatigue

Reasons for the above problems:

1.SWELLING in face and abdomen :-

patient complaits from the age of 1 

Swelling is mainly in face,neck region and abdomen.

She usually gets it when she gets emotionally stressed, during exercise, smoking and eating wrong type of food like Fava beans.

It might be a part of hemolytic crises occuring in patient due to G6PD deficiency.

 G6PD DEFICIENCY :-

▪️It is a X-linked intermediate disease.

▪️HMP shunt pathway is affected in this condition where there is decreased production of NADPH.

▪️NADPH maintains the levels of reduced glutathione which inturn maintains the RBC integrity.

▪️If the reduced glutathione levels are low then the RBCs become fragile and when they are subjected to oxidative stress undergo hemolysis.

▪️There is decrease in ATP which results in loss of ions which causes decreased urination and facial edema .

RECOMMENDED INVESTIGATIONS ARE :

▪️Hemogram -shows anemia

▪️ECG- shows if there are any signs of right heart failure 

▪️Chest X-ray-Left atrial enlargement in this case 

▪️SGPT and SGOT - are usually elevated in a case of hemolysis 

▪️CUE - for infections

▪️Any episodes of jaundice must be asked

SUGGESTED TREATMENT:

Treatment taken by the patient is cimetidine .

We can also reduce swelling by : 

▪️Avoiding oxidative stress

In acute phases, blood transfusion may be necessary.

▪️Apple has good antioxidant properties which the patient is taking daily.

▪️Pharmacological : serine - it increases urination and excess salt consumption

2.HEADACHES:

Severe headaches started at the age of 2 and became worse with menses at age 14.

Attacks increased in severity over time.

They are preceded by aura mainly visual

Site - more common in the left side.

It is been preceded by Aura and associated with numbness of left hand and left face.

She told that it became worse at 34yrs of age & eventually lost her vision but relieved by itself

Reasons could be -

Hemiplegic migraine

Transient Ischemic Attack (but less likely to have aura)

Infections like meningitis, encephalitis (should have fever,rash)

Brain tumours

Metabolic disturbances like folate level imbalance, high homocysteine levels (MTHFR deficiency)

Investigations recommended -

CT & MRI of brain

EEG

CSF analysis for infections

Magnetic resonance angiography for TIA

Treatment taken are -

Triptans 

Nattokinase which brought great change in her symptoms

Recommended treatment modalities are -

Avoidance of triggers like stress , light 

Ergots , NSAIDs etc.,

Erenumab which is a monoclonal antibody against CGRP

3.Shortness of breath :-

She complains of  not able to breath from very young age & sometimes can barely breath

Reasons could be -

Right heart failure because of haemolysis from G6PD deficiency

Hiatal hernia 

Allergic reactions

Anxiety disorder as she suddenly wakes during sleep can also cause it

Asthma

Investigations recommended are -

BNP levels to rule or heart failure 

Chest X-ray etc.,

Treatment recommended are: 

▪️Remove the underlying cause 

▪️Oxygen therapy 

▪️Budesonide nebulization for asthma.

4.LEFT SIDED WEAKNESS:

Numbness in left side of face, loss of function on left side of the body.

Had this type of weakness at the time of migraine attack.

Passible dignosis could be HEMIPLEGIC MIGRAINE.

5.SLEEP DEPRIVATION

Less duration : 2-4 hours

Low REM sleep 

Causes for sleep problems:low NADPH ,low glycine and AMPD1 deficiency( increased adenosine levels),g6pd impairs glycolysis which decreases formation of glycine 

SUGGESTED TREATMENT

▪️L-Serine acts similar to glycine and improves the quality of sleep.

▪️Cimetidine

6.Fatigue:(Exercise induced ):-

She even complains of easily getting tired immediately after exercise 

Reasons could be

AMPD1 deficiency which causes lack of ATP 

Oxidative stress from G6PD deficiency 

Investigations recommended are -

Ammonia levels (since not increased in AMPD1 deficiency)

Treatment recommended are -

▪️Ribose 0.2 g/kg daily with hourly dosing provides direct source of energy for cells in case of exertion.

7.Oliguria : 

It is probably believed to be caused due to oxidative stress occurring in G6PD deficiency which explains reduced NADPH production and loss of ions causing decreased urination associated with coke colour

Other causes of oliguria could be 

Physical trauma

Infections

Shock

Investigations recommended are -

Urine output 

Urine examination 

USG / CT abdomen

Cystoscopy

Treatment recommended are -

Increase fluid intake or IV fluids if emergency 

Antimicrobials for infection 

Furosemide if required

OTHER PROBLEMS OF THE PATIENT

MTHFR (Methylene tetrahydrofolate reductase) MUTATION

Increased homocysteine levels,decreased folate and B12 levels. 

Associated with:Digestive issues,migraines,depression, anxiety,bipolar disease,peripheral neuropathy and scoliosis.

TREATMENT:Folate,Vitamin B6,12 supplements,methionine and 5-MTHF.

Family history:

Mother was diagnosed for fibromyalgia.

Father had heart attack in 40s.

Grand father had early death.

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 levels

HLA-DRA - 3x higher risk for developing a peanut allergy In populations of European ancestry

VWF - association with Von Willebrand disease type 1

DIO2 - 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.

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

ANKK1 - Tardive Diskinesia 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

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,

WNK1 MUTATION

It is a serine threonine kinase which helps in regulation of cation-chloride cotransporters.

Associated with familial hyperkalemic hypertension syndrome.

Overall investigations :- 

1.edema changes within a week 

1 week apart




1 Day apart 

2.fractures (broke other ankle again last June after falling .was put in walking boot 

3.rashes - usually 3 to 4 times a year .not present in past 6 months 

Rashes on Face 

So , overall we can suggest :

It is a genetic disorder so no cure.

Treatment of symptoms can be done

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 are: 

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 

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