A 42 year female with quite a few complaints dating back to her childhood

hello all, I am currently doing my final year of MBBS and this is a log to share my views of an interesting case



presenting problems:

  She presented to us with the problems of  1. frequent fall to the left side with weakness in left hand  and leg

 2. she had salt and fat cravings

 3. she had hair loss and fatigue

 4. poor stress response  

 5. she had generalised swelling due to emotional stress, exercise, smoking, eating

 6. she had decreased sleep

 7. she complaints of decreased urine output

 8. left jaw pain

 9. difficulty breathing
Her past problems:


- severe jaundice during birth
- decreased sleep
- severe reaction to sulpha drugs
- wake up at nights due to raise in heart rate
- anxiety issues
- migraines
- weight fluctuation
- ectopic pregnancy
- pcod
- kidneys and lung infections
- removal of precancerous tissues
- anemia in the past
- reaction to antimalarials
- reaction to fava beans
- has history of heavy mensutral bleeding
- dark coloured urine after exercise

family history:

mother was diagnosed with fibromyalgia and father dies of heart attack at the age of 40, grand father had an early death.

Investigations:

 the DHEAS level is high suggestive of pcod

bone deformities can suggest increased marrow production

genetic testing reveals seattle g6pd deficiency, AMPD1 deficiency,VWD type 1

given her history its evident that she is suffering from g6pd Deficiency which she didn't know until she got tested for it, most of the above problems could be linked to it i.e anemia, reaction to sulfa drugs, reaction to antimalarials and fave beans jaundice during birth

 The muscle weakness can be attributed to the Seattle type of G6PD Deficiency and I can also be due to AMPD1 Deficiency as her mother had a history of fibromyalgia

reference link
https://ghr.nlm.nih.gov/condition/adenosine-monophosphate-deaminase-deficiency#

The problem of pcod can be attributed to G6PD deficiency which can cause oxidative stress playing an important role in the pathophysiology on the problem

reference link
http://www.ijpvmjournal.net/article.asp?issn=2008-7802;year=2019;volume=10;issue=1;spage=86;epage=86;aulast=Mohammadi

The EKG revealed she had sinus tachycardia which is can be due to the stress and the left atrial enlargement can be due to increased left atrial pressure due to volume overload

The use of cimitidine explains the prolonged QT interval on the EKG

swelling can due to the excess salt intake and the decreased urine output suggests that her kidney are not functioning good as a result of oxidative stress and active loss of ions in urine as there is no ATP left for active transport and this explains salt cravings

The bruise on her left leg when fractured and heavy menstural bleeding can be explained because of VWD

The Treatment should be mainly concentrated on the limb weakness and swelling as she feels uncomfortable and can't do her daily chores normally and sleeplessness

L-serine is used for increasing the duration of sleep

cimetidine is used for rashes and decreasing androgens

G6pd deficiency treated with NAC and anemia with iron folate supplementation

AMPD1 deficiency can be treated with D-ribose which can probably help releave her muscle weakness

She should be advised not to take any medications or food that trigger haemolytic anemia due to G6PD deficiency and ask her not to stress the body by excercising a lot which may act as trigger
 ask her to stop or replace cimetidine as it may cause heart problems like torsedes de pointes due to prolonged QT interval