A 42 Year old woman with multiple health events since birth
Case given to me is in the link given below:👇
Case:
It was a 42yr old female with
Chief complaints:::
1.Loss of coordination ,numbness on the left side.
2.Breathing problems.
3.Salt cravings.
4.Swelling.
5.Poor stress response
Reasons for the problems:
1.Loss of coordination and numbness on the left side indicating like left sided hemiplegia.
-causes can be Brain infections,Brain tumors,Genetic abnormalities.
-she also suffered with very long duration of migraine and severe headache;hemiplegia associated with migraine can be hemiplegic migraine which is a genetic abnormality due to mutation of genes like ATP1A2,SCN1A.
-she has low vitamin B12 levels which causes demyelination of neurons ,may be a cause for loss of coordination and spinnimg movements.
2.Breathing problems:
-she is suffering with G6PD deficiency.Glucose 6phosphate dehydrogenase enzyme which is required in the generation of ROS(reactive oxygen species) like peroxides,superoxides in macrophages required fpr killing the bacteria .Due to the deficincy ,there is weak immunesystem and results in severe infections which resulted in chronic lung infections and liver infections.
Due to which she has chronic beathing problems.
3.Salt Cravings:
-she would like to take excess salt which may be related to conditions like electrolyte imbalance as she was even associated with severe headache,nausea and vomitings.
-Addisons disease and stress.
-As she is using NAC tab 600mg for the COPD ,which has the side effects like nausea and vomiting.
-she is also using the Cimetidine 400mg,used treat ulcers of stomach and intestine is a H2 receptor blocker has anti androgenic effect and may cause salt cravings and which may even be the cause of poor stress respose.
4.Swelling:
-swelling which is the main complaint can be due to her harmonal changes,inflammation of blood vessels,infections( h/o of kidney infections).
-even associated with mouth ulcers,
-too much salt intake may also be a cause.
Drug history:
1) L-Serine 20 gm at night,
2)Ribose 2 gm every hour in water, if any major exercise or exertion.
3)400mg cimitidine
4)600mg NAC
5)Iron folate 500% of RDA
Family history::
Mother was diagnosed for fibromyalgia.
Father had heart attack in 40s.
Grand father had early death.
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,
Investigations:
-complete blood picture frequently should be done.
-vitamin b12 levels
-kidney function test
-LFT
-FAI( free androgen index).
Imaging:
-MRI ,x ray for inflammation of blood vessels and brain tumor or infections.
Treatment::
It is a genetic disorder so no cure.
Treatment of symptoms can be done
Avoid triggers like oxidants
If Hemolytic episode is seen then hydration followed by blood transfusion based on severity of anemia.
Some of the treatment options
1- Ribose diet
2- L serine for sleep
3- cutting oxidative stress
4.vitamin B complex
5.antioxidant vitamins
6.fructose+antioxdants
7 salt + butter
8.keto diet.
9. iron folate supplemets.
10. antioxidant supplement pycnogenol
11.cimetidine for swelling - tried and helped
