42 YEAR OLD WOMAN WITH MULTIPLE HEALTH EVENTS SINCE BIRTH

Hello everyone , this is Rahul and I'm a 4th year medical undergraduate .we've been allotted with the following de-identified open online patient record,regarding this case you can find the information in the link given below. 

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

following are some of the problems which i noticed and tried to list them in the order of priority:

1)frequent migraine attacks which are very severe and often associated with  intensified AURA.

2)vision loss and even the LASIK was failed and not able to correct the vision.

3)breathing difficulties

4)swelling of face and abdomen

5)difficulty during sleep

6)poor stress tolerance

7) left jaw pain

and according to her genetic reports she was diagnosed with multiple genetic defects, the most important being the G6PD deficiency. and others are 


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

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.



1)causes of migraine :

she had increasing attacks of migraine from age 24 , and at age 34 she complained that she had worst headache ever. 
patients usually complains like this when they have SUBARACHNOID hemorrhage. this is usually caused when there is rupture of saccular aneurysm which may be caused due to weakening of vessel wall.
but according to the given reports ,everything was normal.so the probable cause of headache may be due to HEMIPLEGIC MIGRAINE or may be due to AMPD1 deficiency which may also show sings of migraine. but the exact cause of migraine is yet to be evaluated

INVESTIGATIONS:
*CT and MRI of brain can confirm brain tumors 
*calculate the intracranial pressure
*CSF analysis for any infections
*anigiography 
*EEG

TREATMENTS WHICH WERE PRESCRIBED:

*TRIPTANS and NATTOKINASE

POSSIBLE CHANGES TO THE TREATMENT:

*ANTIEPILEPTICS for seizures

*avoiding the triggers such as stress and any aggrevating factors like drugs etc




2) BREATHING difficulty probably caused due to:

* person gets easily tired due to AMDP1 DEFICIENCY
* due to G6PD deficiency free radicals are excessively released 

More oxidative stress - Since G6PD plays a key role in the production of NADPH utilized by the glutathione reductase to maintain GSH in the reduced form, one may deduce that, in G6PD deficient muscle, a lower level of NADPH leads to a decrease of intracellular GSH, which in turn increases the cell vulnerability to the reactive oxygen compounds and free radicals formed in the aerobic metabolism. With reference to this, it should be emphasized that heart and skeletal muscle have low levels of catalase and superoxide dismutase as compared with other tissues and therefore might be expected to be dependent on GSH linked reactions, for detoxification of reactive oxygen species (Ji and Fu, 1992). Oxo-radicals are in fact responsible of myofiber disruption and loss of intracellular proteins, which cause post-exercise soreness (Armstrong, 1990). https://www.g6pd.org/en/G6PDDeficiency/ResearchPapers/G6pdMusc.asp

Drinking alcohol increases your levels of cytokines, inflammatory molecules that are linked to oxidative stress.Exposure to tobacco smoke. Tobacco smoke contains more than 4,000 toxic chemicals that lead to oxidative stress.Exposure to air pollutants. Allergens and industrial pollution increase oxidation in our bodies.Excessive stress. Stress and the stress hormone cortisol increase inflammation, which further increases free radical production.Ionizing radiation. Exposure to the sun, x-rays, radon, hair dryers, cellphones, airplanes, electric blankets and waterbed heaters can contribute to oxidative stress.Eating charbroiled foods. These contain polycyclic aromatic hydrocarbons, which can contribute to oxidative stress.Exposure to fungal toxins. Environmental molds (like those in bathrooms and basements) and internal molds and fungi (those related to your gut) can produce toxins that increase oxidative stress.Poor liver and gut detoxification. When the liver becomes overwhelmed with toxins from food (like when you eat too much sugar) or the environment (like exposure to pesticides or mercury), it becomes inflamed and produces more free radicals.

TREATMENT given:
RIBOSE given daily and hourly to increase energy levels of the cells



3) SWELLING OF FACE AND ABDOMEN

 the patient is diagnosed with hemolytic anemia, due to G6PD deficiency. she might have developed swelling and fatigue due to oxidative stress G6PD catalyzed the rate limiting step in PENTOSE PHOSPHATE PATHWAY 

INVESTIGATIONS DONE: 

HEMOGRAM-ANEMIA

 AST AND ALT- increased 

CXR-left atrial enlargement

TREATMENT given:
CIMETIDINE was given to reduce her swelling but she used to sweat allot after using them .and the use of cimetidine is the cause for prolonged QT interval in EKG 




4) SLEEPING DIFFICULTY:
 
sleeping difficulty may be caused due to G6PD deficiency which leads to decrease in NADPH , glycine  or may be due to AMPD1 mutation

TREATMENT GIVEN:
L-SERINE was used to increasing the duration of sleep.


some other major problems in the past :
 
*she was diagnosed with POLYCYSTIC OVARIAN DISEASE at age 21 , which was responsible for her loss of pregnancy.

*BIPOLAR DISORDER, DEPRESSION and ANXIETY - at age 15 she even attempted suicide 

*VON WILLEBRAND DISEASE due to mutation of  VWF gene. which was responsible for painful menstruation with clots.


*and recently she was diagnosed with BEHCET'S DISEASE, which is a vascular disease and may present with oral and genital ulcers. and it is associated with uveitis. this may be aggrevated with HSV or parvovirus infection.

*Occasional hip and knee joint pain and cervical neck pain form my degenerative spine.

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