A case of a 42 year old female with with multiple health events since birth
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,clincial findings,investigations and come up with the diagnosis and treatment plan.
Problems of the patient-
1.swelling of face and abdomen
2.migraine (associated with AURA)
3.fatigue
4.sleeplessness
5.oliguria
Reasons-
1.swelling
She was diagnosed with heamolytic anemia due to G6PD deficiency which leads to hemolysis of RBCs .
This deficiency causes decreased generation of NADPH and ATP which causes oxidative stress.This may be the reason for swelling
INVESTIGATIONS
-Hemogram which shows anemia
-ECG-Signs of right heart failure
-CXR-left atrial enlargement
-AST and ALT levels increased
TREATMENT
-Avoiding stress
-oxygen therapy
-cimetidine to reduce swelling
2.MIGRAINE ASSOCIATED WITH AURA
patient has a history of headache since she was 2 years old,the severity increased at the age of 14
At 15,they were very severe
By34,the number of episodes and severity of headache increased and aura was also so intensified that she was completely out of vision
INVESTIGATIONS
-CT
-MRI
-EEG
-CSF analysis
TREATMENT
-Triptans are used
3. FATIGUE
The patient complains of exercise induces fatigue which was severe
This may be due to G6PD deficiency
This will lead to increased cell vulnerabililty to oxidative stress
AMPD1 deficiency causes muscle weakness which leads to ATP depletion
TREATMENT-
-cutting out caffeine
-taking adequate food
-ribose
4. SLEEPLESSNESS
patient complains if sleep duration of just 2-4 hours since birth
Low NADPH and low glycine levels maybe the cause
INVESTIGATIONS-
-CT
-MRI
-EEG
TREATMENT-
-L serine
5.OLIGURIA
the patient compalins of decreased urination which increases during fasting
May be due to G6PD deficiency there is oxidative stress causing kidney damage and hence oliguria
INVESTIGATIONS-
-CUE
-USG
OTHER MAJOR PROBLEMS-
-excessive hair loss(alopecia)
-von willebrand disease(due to mutation of VWF gene)
-failed LASIK surgery
-polycystic ovarian disease at age 21
-dysmenorrhoea
-excessive hair growth on body
ADVICE-
The patient should go for whole genome sequenciing