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


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


PRESENTED BY: K.ABHIMANYU
                                      
 ROLL NO:79 (8TH SEMESTER)

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.....


Chief complaints : 

The patient has frequent falls to the right. Her left foot and hand started giving out. She has poor stress response Rashes on face (2-4 times a year) . Develops swelling, hair loss and fatigue. She has left jaw pain radiating to the face. She has dyspnea, oliguria .develops swelling when ingesting most of the foods, or smoke.Finds herself to be slim morning and appears to be a pregnant in the noon.  Develops weakness on exertion. Craves for salt and fats. Ingests 2-4 tbs of salt when she feels sick. 


Following is my analysis of the patient's problem:

The problems in order of priority are: 

  • SWELLING
  • SEVERE HEADACHE
  • MUSCLE WEAKNESS 
  • SLEEP DEPRIVATION 
  • EXCERCISE INDUCED FATIGUE 
  • OLIGURIA


1) SWELLING OF FACE AND ABDOMEN

The patient gave a history of swelling of face and abdomen since she was a 1 year old and continues on and of till date. 
Triggers factors for edema include emotional stress, exercise, smoke, eating the wrong thing.

The patient also gave a history of neonatal jaundice , SOB, dark coloured urine which suggest a possible hemolytic disorder

Possible reason for the edema might be hemolytic crises due to G6PD deficiency for which the patient was diagnosed last year.

G6PD deficiency is a genetic abnormality that results in an inadequate amount of glucose-6-phosphate dehydrogenase (G6PD) in the blood. This is a very important enzyme (or protein) that regulates various biochemical reactions in the body.G6PD is also responsible for keeping red blood cells healthy so they can function properly and live a normal life span. Without enough of it, red blood cells break down prematurely. This early destruction of red blood cells is known as hemolysis, and it can eventually lead to HEMOLYTIC ANEMIA. Hemolytic anemia develops when red blood cells are destroyed faster than the body can replace them, resulting in reduced oxygen flow to the organs and tissues. This can cause fatigue, yellowing of the skin and eyes, and shortness of breath. 


EDEMA IN G6PD DEFICIENCY: Reduced NADPH levels leads to increased free radical damage to kidney and excessive ion loss and disturbed water balance leading to edema.
ACCORDING TO  HER PAST HISTORY, possible triggers in the patient in the past episodes might have been
  • Antimalarial drugs
  • fava beans
  • sulpha drugs
  • infections

INVESTIGATIONS:
Complete blood count and reticulocyte count
G6PD enzyme levels
Lactate dehydrogenase levels
Indirect and Direct Bilirubin 
Serum Haptoglobulin
Urinalysis for hematuria
Urinary Hemosiderin
Peripheral Blood smear
TREATMENT:
avoid trigger factors
cimetidine (the pt is using 400mg and it has decreased the frequency and severity of episodes )
include sources of antioxidants diet
oxygen therapy and
blood transfusion in extreme cases.

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.

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.
plus 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.
FURTHER INVESTIGATIONS
  • Fundus examination: look for papilloedema: sign of raised ICT and helps in ruling out Dangerous type of headache.
  • CT and MRI
  • XRAY paranasal sinuses
SUGGESTED TREATMENT
ACUTE MODERATE TO SEVERE ATTACK;
Triptans (5HT 1B/1D agonists) are used.

Newer modality of treatment:ERENUMAB:monoclonal antibody against CGRP(calcitonin gene regulated peptide).

3) WEAKNESS ON LEFT SIDE:
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


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) 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. 
Treatment taken by her : 

Ribose- helps to recover ATP levels and has improved the functional ability of the patient.


6) 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.



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



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