A 42 year old female patient with multiple health events since birth.
Complaints -
1.Swelling of face and abdomen
2.Headache
3.sleep deprivation
4.Exercise induced fatigue
5.Left sided weakness
6.oliguria
7.Rashes.
1.Swelling of face and abdomen
swelling started at the age of 1 year and the patient is still suffering from swelling in some conditions like
emotional stress,eating some foods which are uncompatible for her , smoking etc.
It might be due to progression of G6PD into haemolytic crisis.
G6PD DEFICIENCY
It is a X-linked inherited disease. In G6PD deficiency HMP shunt pathway is affected leading to decrease in production of NADPH.NADPH maintains the reduced gluthathion levels which maintains the integrity of the RBC.
In G6PD deficiency levels of reduced glutathione are less and it leads to fragility of RBC inturn leads to haemolysis.
Differential diagnosis for swelling
Cardiac failure
kidney problems
chronic severe anaemia.
Triggering factors
1.Foods- fava beans
2.Drugs - antimalarials
3.Infections
4.Smoke
5.exertion.
Investigations
Complete blood picture
peripheral smear
Enzyme detection - G6PD level should be detected.
Genetic testing.
Treatment
1.she is on RIBOSE for swelling
2.Avoid exposure to triggering factors
3.Salt restriction
4.Blood transfusions
5.Antioxidants and vitamins
2.Headache
She has severe headache since 2 yrs of age, is sudden in onset and very severe.
temporary blindness
Left hand numbness
fall into left side (ataxia)
stuttering of speech
vertigo are noticed .
Diagnosis
Above comlpaints are suggestive of hemiplegic migraine.
Triggering factors for migraine-
Intense physical activity
skipping of meals
travelling
Exposure to smoke
stress
use of borth control pills
decreased sleep.
Investigations:
1.CT and MRI
2.Tests of heart and blood vessels to rule out blood clots.
TREATMENT
She has taken TRIPTANS for migraine
Other medications can be used are: CGRP inhibitors.
3.Sleep deprivation
Onset - since birth
Duration of sleep - 2 to 4 hrs and No REM sleep.
possible causes -
1.AMPD1 deficiency can cause sleep disturbances because adenosine is an inhibitory neurotrasmitter
2. G6PD deficiency impaired in glycolysis so glycine is not formed well. Glycine also an inhibitory neurotransmitter
TREATMENT
1.L-serine -works like glycine in brain
so it helps in better sleep.
2.Cimetidine
4. Exercise induced fatigue
possible causes -
1.AMPD1 Deficiency
Lack of ATP , hence the person gets easily tired.
2.Oxidative stress
from excess of free radicals because of G6PD deficiency
3.past history
parents are smokers which increases the oxidative stress
TREATMENT GIVEN
1.RIBOSE
5.Left sided weakness
Numbness in left side of face
Loss of function on left side of the body.
She had this type of weakness at the time of migraine attack.
POSSIBLE DIAGNOSIS
Hemiplegic migraine.
6.Oliguria
1.Due to G6PD deficiency there is oxidative stress causing kidney damage.
Because , reduced production of NADPH and ATP and leads to loss of ions and decreased urine production.
2.It may be due to WNK1 gene mutation, kidney infections
INVESTIGATIONS -
1.CUE
2.USG
7.Rashes
She was diagnosed with BACHETS syndrome,
which is an autoimmune disorder, which causes Vasculitis, rashes, blurred vision due to improper blood supply
INVESTIGATIONS
1.Pathergy test
2.OCT
3.Skin prick test.
Other problems -
1. PCOD
2.Fractures
3.Loss of hair
4.Excessive growth of hair on the body
5.Osteoarthritis
6.Anhydrosis due to WNK1 gene mutation.
