Case of a 42 year old woman with multiple health issues

Presented by, V. Saketh

Roll.No:174

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.

After going through the patient's history, clinical findings and investigations.

Problems of this patient in order of priorty according to me are:

1. Fatigue, skin-pale and yellow, shortness of breath.

2. Oliguria and unable to sweat.

3. Edema.

4. Headache.

5. Sleep disturbances.

Fatigue, dyspnoea-

This is due to hemolytic anemia which is caused due to G6PD deficiency. G6PD enzyme helps the RBC from oxidative stress by free radicles by releasing NADPH.

So lack of this enzyme causes hemolysis.

-The triggering factors for this patient are eating fava beans, intakr of anti-malarials, sulfa drugs, exposure to various allergens.

-It can also lead to increase in heart rate.

-Her urine colour is also dark and yellow which is due to bilirubin.

Investigations done are:

CBP, serum free floating hemoglobin level test detecting G6PD enzyme serum bilirubin levels

Peripheral smear LFT

Non-Pharmacological treatment:

Avoid aggrevating factors that cause oxidative stress.

Pharmacologiacl treatment:

Blood transfusion, Oxygen therapy, Ribose, Drugs that decrease heart rate.

Oliguria-

-Kidney can be damaged due to G6PD deficiency which causes oxidative stress by destroying ATP which is required for preventing the loss of ions.

-Streptococcal infection may also be a reason for kidney disfunction.

 

Investigations done are:

Renal function tests, cytoscopy, CUE, USG, ASO antigen detection.

Treatment:

Low intake of salt, diuretics should be used, G6PD deficiency should be rectified.

Edema-

-It can occur because of anemia.

-Excessive alcohol consumption.

-Her weight is increased when she is exposed to oxidative stress.

-Kidney failure due to underlying cause.

Treatment:

Cimetidine was given to reduce the swelling.

Headaches, frquent falls-

-During childhood she had frontal bossing suggestive of increase in intracranial pressure.

-CSF leak.

-Migraine and vomitings.

-Inflammation of scalp during attacks.

-Frequent falls-ataxia suggestive of cerebellar tumors.

Investigations done are:

CT, MRI of brain are done to rule out presence of any tumor, CSF analysis.

Treatment:

Triptans are given for migraine.

Advice given to the patient: Avoid stress, stay in dark room.

Sleep disturbances:

-This could be due to decrease in the level of glycine, because glycolysis pathway is inhibited due to deficiency of G6PD enzyme. Glycine is an inhibitory neurotransmitter that depress CNS. So, lack of gllycolysis causes sleep disturbances.

Investigations done are:

EEG

Treatment:

L Serine. This converts into glycine in the body.

Other problems:

1. Scolosis- CT spine

Muscle weakness- Could be due to AMPD deficiency

2. Occassional hip joint and knee pain- May be due to osteoarthritis.

3. As there are lung infections, smoking there would be pulmonary hypertension causing right heart failure.

Investigations done are: Chest X-ray, ECG, echocardiogram .

4.Excessive bleeding and clots may be due to vWD disease.

5. She is positive for Bechets disease and thus rashes, mouth ulcers, blurred vision.

6. She is having increased pain tolerance for some unknown reason.