MBBS IV year
roll no. 152
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.
The present complaints of the patient are:-
1) Swelling
2) Weakness with exertion
3) Migrane with aura
4) Sleeplessness
5) Oliguria
The possible reasons for these symptoms can be
1) SWELLING:-
The patient complains of swelling particularly of face and abdomen since she was 1year of age and continuing till date. Edema aggrevated on emotional stress, excersise, eating certain food such as fava beans, certain drugs like sulpha drugs, anti malarials especially 'primaquine' and smoke.
Possible causes of swelling in G6PD deficiency:
=> The patient also gave a history of neonatal jaudice, SOB, dark coloured urine which suggests a possible hemolytic disorder.
=> G6PD is a important substrate in hexose monophosphate shunt, which is the only means of providing NADPH in the erythrocytes and its deficiency causes red blood cell breakdown and ion loss which causes edema.
=> G6PD deficiency - HEMOLYSIS. here there is retention of salt and water, reduction of renal blood flow and glomerular filtration rate as the reduced NADPH levels increases free radicals that are directed to various tissues or organs like kidney etc. hence disturbing the water balance leading to edema.
Also these paients also might have high cardiac output and loow systemic vasculsar resistance.
Few studies have shown that the low haemoglobin level causes reduced inhibition to endothelium derived relaxing factor activity which leads to generalised vasodilation, which causes incresed vascular permeability.
The hemolysis causing hemolytic anemia can compromise the oxygen supply to various tissue and hence causing symtoms like fatigue, pallor, shortness of breath.
=> The patient also gave a history of salt intake as it relieved few of her symptoms which might be another cause to oedema.
=> INVESTIGATION:-
Complete blood examination.
G6PD enzyme levels.
Direct and indirect bilirubin.
Lactose dehydrogenase level.
Urine analysis.
=> TREATMENT:-
Avoid the trigger factors
Cimetidine (the patient is currently using cimetidine 400mg which has relieved her to a satisfactory extent).
Decrease the salt consumption.
Incresed antioxidants rich food.(the pateient uses 600mg NAC to increase glutathione antioxidants).
1 week apart after use of L serine
2) WEAKNESS ON EXERTION:-
The weakness may be due to reduced hemooglobin as a result of destruction of RBCs due to G6PD deficiency as the oxygen transport to the tissues is compromised.
AMPD1 deficiency implies there is no enzyme present for formation of ATP which is also called the molecular unit of currency (transports chemical energy for metabolism) and hence this causes fatigue.
patient was diagnosed with asthma and the inhalers didnot help which was relieved by ribose
=> INVESTIGATION:-
Neurological examination.
blood workup for infections or immune mediated disease.
=> TREATMENT:-
The use of d-ribose has shown relieving of exertion. the patient uses ribose 2gm every hour in water and if any major excersise then 2gm before that.
3) MIGRANE WITH AURA:-
The patient suffers from severe headache which started since age 2and became worse with menses and while on birth controls(nuva ring)which she used at age 32.
The patient gets inflamation on the scalp before getting the migrane attack. she also had higher tolerance to pain and the headache was associated with severe mood disorder as she used to get extremely angry when she is forced to do something.
Aura description - It always starts as a small Flicker in the upper left and then eventually becomes a crescent that covers the entire center of my vision. Lots of rainbow colors and movement. In the last year had some instances where it was from the led tand a line or circle that was solid and black.
The low erythrocyte count can be the cause of the patients severe migrane.
=> INVESTIGATION:-
Eye examination
Head CT
MRI
Intracranial pressure examintion
=> TREATMENT:-
Triptans
CGRP inhibitors
Dihydroergotamines
Antiemitics
4) SLEEPLESSNESS
The pateint had a problem with her sleep cycle since she was 1year old. She slept for 2-3 hours per day with almost no REM sleep at all.
The possible cause for sleeplessness can be:-
AMPD1 deficiency which can cause sleep disturbances beecause in the absence in the this enzyme there is increase adenosine which might cause inhibiton of sleep and increses wakefulness.
G6PD deficiency which results in low NADPH levels can also cause sleep disturbance and also the glycine levels are low which has a effect on sleep (low glycine levels has a effect on serotonin production which is one of the factors necessary to sleep).
=> INVESTIGATION:-
EEG
=> TREATMENT:-
L serine and cimetidine helped most with sleep.
Oral glycine also has benefactory effects on sleep deprivation.
Oral glycine also has benefactory effects on sleep deprivation.
The patient is on these drugs and Now the patient is getting 6-8 hours a night and have 2 hours rem.
5) OLIGURIA:-
The patient has less frecquency of urination with the oedema and according to the patient the urination freqency is normal when the swelling goes down. Neither does the patient sweat a lot. The frequency of urination is apparantly more during fasting.
Possible cause might be:-
The tubular damage that has occurred due to the deposition of pigments in the proximal tubule which causes acute renal failure.
Also maybe due to deficiency of NADPH and ATP caused by G6PD deficiency which cause increased loss of ions.
=> INVESTIGATION:-
Urine analysis
RFT
=> TREATMENT:-
L-serine
Cimetidine
Dialysis
=> OTHER SYMPTOMS
=>Genetics
Seattle type G6PD deficiency
AMPD1 - AMPD1 deficiency heterozygous
MTHFR - homozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levels
WNK1 mutation
HLA-DRA - 3x higher risk for developing a peanut allergy In populations of European ancestry
VWF - association with Von Willebrand disease type 1
DIO2 - 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.
CHRNA5 - higher risk for nicotine dependence, lower risk for cocaine dependence
ANKK1 - Tardive Diskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.
TG - 1.3x to 11.5x Increased risk of autoimmune thyroid disease
LOXL1 LOXL1-AS1 - common but 10x higher glaucoma risk in most (but not all) populations
PNPLA3 - increased liver fat, odds of alcoholic liver disease
BACE1 - 2x increased ALZ risk in ApoE4 carriers
BSN - 1.1x risk Crohn's Disease
Increased risk for Alzheimers, ADHD, Autoimmune thyroid & other autoimmune disorders, lung cancer, cluster headache, Obesity, raised ICP, Diabetes, RA, Bipolar disorders, Lung cancer and issues.
=> the patient has brittle bones, easily prone to fractures.
=>Rashes on Face (Usually 2-4 times a year. Past 6 months have not had one),associated with warts.
Cimetidine might help.
=> Cervical degenration and scoliosis seen
=> Heavy bleeding with clots and diagnosed with PCOS at age 22 and the heavy bleeding is also associated with Vonwillibrand disease.
History of ectopic pregnancy.
=> Distal small bowel wall thickening and pericolonic stranding and a Hiatal hernia
=> Excessive hairloss
=> bipolar disorder, depression, anxiety, ADHD/autism
=> Failed LASIK surgery
=> Left jaw pain
=> Mouth and genital ulcers
=>Diet history:-
no history of any food allergies (latex and lidocaine)but there is intolerance to various foods, carbohydartes cause swelling, Food with fructose helps with g6pd, Apples and small amount of meat can be eaten.
Patient apparently If she doesn’t eat at all and stay mellow and calm and not exercising or around smoke she can not swell at all.
=> PRESENT CONDITION OF THE PATIENT AND TREATMENT :-
The patient is diagnosed with Behcets disease which is a type of inflammatory disorder which affects multiple parts of the body. The most common symptoms include painful mouth sores, genital sores, inflammation of parts of the eye, and arthritis. The sores typically last a few days. Less commonly there may be inflammation of the brain or spinal cord, blood clots, aneurysms, or blindness. Often the symptoms come and go.
The patient has been taking 'nattokinase' to which she has responded well.
She has occasioanal hip and knee joint pain and cervical neck pain from from degenerative spine, which can be relieved by taking medications or sometimes by podiatric treatment.
She prefers cognitive behavioral therapy to focus around the pain than medicines.
Still has swelling to the stressors, but less severe.