CASE OF A 42YEAR OLD FEMALE WITH MULTIPLE HEALTH EVENTS.



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. 
 


Original findings of the case link below:

https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1

Following is my analysis of this patient's problem:

THE PROBLEMS IN ORDER OF PRIORITY I FOUND ARE:-

1)  Swelling of face and abdomen

2) Migraine with Aura

3) Sleeplessness

4) Weakness on the left side

5) Oliguria

6) Fatigue


SWELLING OF FACE AND ABDOMEN


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.

Triggers factors for edema include emotional stress, exercise, smoke, eating things which she is not supposed to.

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

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.
 
 INVESTIGATIONS REQUIRED TO CONFIRM G6PD DEFICIENCY:
1. Hemogram (showing decreased hb levels)
2. Reticulocyte count( increased)
3.LDH levels
4.Haptoglobulin
5.Direct Coombs test (negative)
6.Bilirubin(elevated)
7.Urobilinogen
8.Complete blood profile.

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
DIFFERENTIAL DIAGNOSIS COULD BE:
Angioedema 
Congenital heart disease
Renal failure 
G6PD deficiency
On history she had dark urine whick is suggestive of UTI or G6PD deficiency
And swelling on anti malarials sulfa drugs fava beans is suggestive of G6PD deficiency 
We can rule out angioedema as she has no history of allergies.

                  MIGRAINE WITH AURA

Migraine with aura is associated with left sided numbness,left sided spinning movement,memory loss,vision loss.
Differential diagnosis:
Meningitis,encephalitis.
Brain tumors
Vestibular disorders 
Cerebellar disorders
Stroke. 
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)
Migraine headache is episodic and 20% are classical i.e; associated with aura.

Examples of migraine aura include:
  • Visual phenomena, such as seeing various shapes, bright spots or flashes of light
  • Vision loss
  • Pins and needles sensations in an arm or leg
  • Weakness or numbness in the face or one side of the body
  • Difficulty speaking
  • Hearing noises or music
  • Uncontrollable jerking or other movements
CHARACTERISTICS OF AURA:
  • Gradual onset.
  • Lasting <60 minutes.
  • Fully reversible.
  • Followed by headache within 60 miuntes or headache simultaneously with aura.
                                                          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.
(H/o Magic mushroom usage) 

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

                    SLEEPLESSNESS

Onset: 
Since birth
Duration of sleep 2 to 4 hours
Probable causes are G6PD deficiency in this there will be impaired glycolysis so glycine is inhibitory andAMPDI deficiency
Investigations;- polysomnography
                          CT, MRI brain
Treatment :she is on medication of L- serine and Cemitidine
                   Cognitive behavioural therapy.
Numbness in the left side of face, loss of funvtion on left side of body, which are majorly occuring at the time of migraine attacks. 
Possible diagnosis could be due to HEMIPLEGIC MIGRAINE.

                                      WEAKNESS ON LEFT SIDE

Numbness in the left side of face, loss of funvtion on left side of body, which are majorly occuring at the time of migraine attacks. 
Possible diagnosis could be due to HEMIPLEGIC MIGRAINE.

                                             OLIGURIA

Kidney damage can occur due to G6PD Deficiency causing oxidative stress by destroying ATP which is required for pereventing loss of ions.
- or kidney dysfunction may be due to past streptococcal infection.

Investigations done are
CUE,
Renal function test
USG
Cystoscopy
Investigations to be done are: 
ASO antigen detection.

Treatment: 
-Diuretics
-Inkate of salt
-G6PD deficiency should be rectified. 

                       FATIGUE

Due to G6PD deficiency causes decreased production of ATP .so there is fatigue . 
Aggravated on exertion and stress.

Treatment :Ribose which generates ATP.

SOME OTHER MAJOR PROBLEMS SEEN ARE:
  • PCOS due to which she is suffering dysmenorrhea, hairloss, ectopic pregnancy
  • Severe Mood disorder
  • Rashes on face-could be due  to SLE 
  • Increased pain tolerance may be due to WNK1 mutation causing HSAN2 deficiency.
  • VWF mutation leading to heavy menstual bleeding.
  • occasional hip and knee joint pain-may be due to osteoarthritis.
  • Attention Deficit Hyperactivity Disorder- due to ANKK1 gene mutation
  • Recurrent infections due to oxidative stress.

Recently ,she is diagnosed with BEHCETS DISEASE.  where the autoimmune inflammation in the blood vessels is responsible for formation of clots and ischemic disease which may explain the left sided symptoms.


My recommendation is that she should undergo whole genome sequencing to dig out other genetic  mutations








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