42 Years Old female with multiple health events

PRESENTED BY K SAI RAGHU

ROLL NO:88(8th semester)

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 including 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

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Coming to the details

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

Chief Complaints

1)Left sided weakness

2)Swelling

3)Migrane with aura

4)Sleep Disturbances

5)Oliguria

6)Fatigue due to Excersice

Reasons for the above problems

1.Left sided weakness

the patient currently complains of frequent falls to the left. Left foot and left hand started giving out.

Unbearable feeling of spinning when turned to left. 

Severe cramping of left arm

Sometimes complete loss of function on the left side. 

Numbness of left hand and feeling of someone pouring ice Water over left face during migraine attacks.

This might be due to muscle weakness caused my AMPD1 deficiency 

Hemiplegic migraine is another probable diagnosis

2.Swelling

Since she has hemolytic anemia , she could have Right Heart Failure which is responsible for ascites and shortness of breath (because of Pulmonary artery hypertension).

And the hemolytic anemia could be responsible for her kidney infection because G6PD is responsible for production of NADPH. And since she has deficiency of G6PD, She does not have enough NADPH and ATP which resulted in loss of lots of ions thereby causing decrease in urination and Facial edema. ( refer to edited paragraph -1 )

It increased on emotional stress and eating fava beans because she has G6PD Deficiency.

Her shortness of breath could also be attributed to hiatal hernia.

Dark urine on exercise is suggestive of hemolysis which could be due to G6PD deficiency.

3.Migrane with aura

• 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.

MIGRAINE 

Migraine headache is episodic and 20% are classical (associated with aura).

DIAGNOSTIC CRITERIA FOR MIGRAINE:

Repeated attacks of headache lasting for 4-72 hours in patients with normal physical examination and no other reasonable cause for headache and atleast 2 of the following:

Unilateral headcahe.

Throbbing pain.

Aggravated by movement.

Moderate to severe intensity.

additionaly atleast 1 of the following:

Associated nausea and vomiting.

Photophobia and phonophobia.

CHARACTERISTICS OF AURA:atleast 3 of the following:

Gradual onset.

Lasting <60 minutes.

Fully reversible.

Followed by headache within 60 miuntes or headache simultaneously with aura.

Not attributable to other disease.

4.Sleep Disturbances

Onset - since birth

Duration of sleep - 2-4 hours and no REM sleep

Possible causes :

AMPD1 Deficiency can cause sleep disturbances because Adenosine is an inhibitory neurotransmitter so it should help in sleep.

G6PD Deficiency impaired the glycolysis so glycine is not formed well . Glycine is also an inhibitory neurotransmitter.

Treatment taken by her :

L serine : works like glycine in brain so helps in better sleep

Cimetidine      

5.Less Urine Output(Oliguria)

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)

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. CERVICAL DEGENERATION AND SCOLIOSIS SEEN ON X-RAY 

2.ECTOPIC PREGNANCY AT AGE 21

3.MULTIPLE OVARIAN CYSTS. DIAGNOSED WITH PCOS AT AGE 22  

4.INCREASED TOLERANCE TO PAIN- WNK 1 MUTATION

5. FAILED LASIK SURGERY

6.RECURRECT INFECTIONS

7. EXCESSIVE HAIR LOSS

8. MFTR MUTATION- increased homocysteine and decreased folate and b12 levels

Treatment :

As this is a genetic problem treatment will be mostly symptomatic so there is no permanent cure,but certain treatment like

• Ribose diet
• L serine for sleep
• keto diet
• salt+ butter
• iron folate supplements
• Vitamin B complex

can be used