General Medicine case

                                       CASE DISCUSSION

                                                       BY

                                       K.ROSHINI REDDY

                               ROLL NO - 74 (8TH SEMESTER)

Coming to the topic,

I have been given this case to solve in an attemot 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 below.....(https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1)

A 42 year old female patient,came  with severe edema along with G6PD& AMPD1 deficiency and multiple health events.

Chief Complaints

1)  Swelling of face and abdomen

2) Migraine with Aura

3) Sleeplessness

4) Weakness on the left side

5) Oliguria

6) Fatigue

Reasons for the Above Problems

1.SWELLING

 It started at the age of 1 and patient still swells up in conditions of:Emotional stress,exercise,smoking or eating the wrong thing.Swelling is mainly in face,neck region and abdomen.

 

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.

POSSIBLE TRIGGERS IN THIS PATIENT ARE:

• Infections:recurrent UTI and pneumonia infections
• Severe reaction to antimalarials
• Severe reaction to sulfa drugs
• Severe edema after FAVA BEANS ingestion

Following these triggers the patient had symptoms suggestive of hemolysis like coke coloured urine(hemoglobinuria),diarrhoea,vomiting,swelling and acute kidney injury.

FURTHER EXAMINATION AND INVESTIGATIONS

• Any episodes of jaundice?
• Any other specific triggers for hemolysis?
• Complete blood picture,Retic count
• Liver enzymes
• Raised Lactate dehydrogenase levels (sign of intravascular hemolysis)?
• Decreased Haptoglobin levels?
• Raised unconjugated bilirubin levels?
• COOMBS TEST which is negative as G6PD deficiency is non immune mediated hemolytic anemia.
• SPECIFIC TEST:BEUTLER FLOURESCENT SPOT TEST.
• Peripheral smear examination:Bite cells,Blister cells,HEINZ bodies.

SUGGESTED TREATMENT

• Avoiding oxidative stress.
• Vaccination against pneumonia is taken ehich helped in preventing infection induced attacks of hemolysis to some extent.
• In acute phases, blood transfusion may be necessary.

2.migraine with aura:

• severe headaches since age 2 which became worse with menses and birth control.
• increased severity at 15 years of age o the point that she wasn't able to get out of bed
• at 32 yrs headaches increased and aura intensified to the point of not just colors obscuring vision, but full getting out of vision- on and off
• worst headache associated with first spinning episode and loss of vision and stuttering. loss of vision for about 2 hours (cannot remember). associated aura was described as colorful and sparkly. subsided the next day, but memory loss and stuttering returned.
• aura description- it always start as a small flicker in the upper left and then eventually becomes  crescent that covers the entire center of the vision. lots of rainbow colors and movements. in the last year had some instances where it was a line or a circle that was solid and black.
• mostly on the left
• aggravated in a sauna
• associated with inflammation on the scalp before the episode
• investigations suggested are : head CT scan and MRI
• takes triptamines in the form of microdosing magic mushrooms
• other medications that can be tried include ergot derivatives, opiod medication

3.Sleeplessness

mainly due to migraine

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) OLIGURIA

The patient complains of decreased urination which increases during fasting.

This might possibly be due to her G6PD deficiency- due to deficiency of NADPH and ATP there is increased loss of ions ( as both are needed for active absorption of ions )

And hence there is decreased urine output and an increased urge to take in salts due their continuous loss.

6) FATIGUE:

The patient complains of excessive fatigue more severely most exercise.

• This is due to - in G6PD deficiency, decreased levels of NADPH leads to increased intracellular GSH which inturn increase the cell vulnerability to oxidative stress. 

(Since heart and skeletal muscle have low levels of catalase and superoxide desmutase, they rely mainly on GSH for detoxification of free radicals)

•  Hence oxidative stress causes myofiber disruption and loss of intracellular proteins, leading to post workout sourness.

• Anemia is also a cause of fatigue.

•  AMPD1 Deficiency also causes decreased ATP and muscle weakness.

Other Problems

1.Failed LASIK Surgery

2.Ectopic Pregnancy

3.Recurrent Infections

4.Hair Loss

Treatment:

its a genetic disorder so there is no definitive treatment as far as i am concerned

if any treatment is possible it will be only symptomatic treatment like taking of antioxidants, maintaining proper diet etc