Medicine e log

45 year old female presented with multiple health events

 have 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 icluding history,clinical findings,investigations and come up with a diagnosis and treatment plan.

You can find the entire real patient clinical problem in this link below

Following is my analysis of the patient problems in order of priority :

1.Swelling
2.Migraine with aura
3.Left-sided weakness
4.Sleep deprivation 
5.Oliguria
6.Fatigue

The reasons for above problems are

1)SWELLING

 It started at the age of 1 and patient still swells up in conditions of:Emotional stress,exercise,smoking or eating the wrong thing.Swelling is mainly in face,neck region and abdomen.
 
It might be a part of hemolytic crises occuring in patient due to G6PD deficiency.

 G6PD deficiency is a genetic abnormality that results in an inadequate amount of glucose-6-phosphate dehydrogenase (G6PD) in the blood. This is a very important enzyme (or protein) that regulates various biochemical reactions in the body.G6PD is also responsible for keeping red blood cells healthy so they can function properly and live a normal life span. Without enough of it, red blood cells break down prematurely. This early destruction of red blood cells is known as hemolysis, and it can eventually lead to HEMOLYTIC ANEMIA. Hemolytic anemia develops when red blood cells are destroyed faster than the body can replace them, resulting in reduced oxygen flow to the organs and tissues. This can cause fatigue, yellowing of the skin and eyes, and shortness of breath. 


EDEMA IN G6PD DEFICIENCY: Reduced NADPH levels leads to increased free radical damage to kidney and excessive ion loss and disturbed water balance leading to edema.
ACCORDING TO  HER PAST HISTORY, possible triggers in the patient in the past episodes might have been
  • Antimalarial drugs
  • fava beans
  • sulpha drugs
  • infections
INVESTIGATIONS
  • Hemogram - shows anemia
  • ECG - signs of Right Heart Failure
  • CXR - Left atrial enlargement in this case
  • SGPT, SGOT - elevated in this case suggestive of hemolysis
  • CUE - to show infection
TREATMENT
  • Avoiding stress
  • Do not consume fava beans, sulpha drugs, antimalarials
  • Serine- increased urination
  • Excess salt consumption


2) MIGRAINE WITH AURA 

 Patient gave a severe history of headaches since she was 2 years old which increased in severity with menses around the age of 14. At age of 15 they were so severe that she couldn't get out of bed
By age 34, episodes and severity of headaches increased and aura intensified to a point of completely out of vision.
Description of aura- starts as a small flicker in the upper left and then eventually becomes a crescent that covers the entire centre of vision.

INVESTIGATIONS:

-Fundus examination: look for papilloedema: sign of raised ICT and helps in ruling out Dangerous type of headache.
-CT and MRI
-XRAY paranasal sinuses

TREATMENT:
 
Acute moderate to severe attack-
Triptans (5HT 1B/1D agonists) are used


3) LEFT SIDED WEAKNESS

Numbness in left side of face, loss of function on left side of the body.
Had this type of weakness at the time of migraine attack.
Possible dignosis could be HEMIPLEGIC MIGRAINE.


4) SLEEP DEPRIVATION 

Low REM sleep 
Less duration : 2-4 hours
Causes for sleep problems:low NADPH ,low glycine and AMPD1 deficiency( increased adenosine levels).

TREATMENT

L-Serine acts similar to glycine and improves the quality of sleep.


5) OLIGURIA

The patient complains of decreased urination which increases during fasting.
This might possibly be due to her G6PD deficiency- due to deficiency of NADPH and ATP there is increased loss of ions
 ( as both are needed for active absorption of ions )
And hence there is decreased urine output and an increased urge to take in salts due their continuous loss.


6)FATIGUE

The patient complains of excessive fatigue more severely most exercise.
  • This is due to - in G6PD deficiency, decreased levels of NADPH leads to increased intracellular GSH which inturn increase the cell vulnerability to oxidative stress. 
TREATMENT:

Ribose- helps to recover ATP levels and has improved the functional ability of the patient.
 
OTHER PROBLEMS OF PATIENT
  • PCOS - Responsible for :
  1. Dysmenorrhoea
  2. Ectopic Pregnancy
  3. Increased Hair loss
  • Bipolar disorders, Anxiety, Depression - could be because of less sleep and MTHFR mutation (Methylene Tetrahydrfolate Reductase Deficiency) 
  • Rashes in face (could be SLE)
  • ADHD (Attention Deficit Hyperactivity Disease ) - Because of ANKK 1 mutation.
  • VWF mutation (Von Willebrand Factor ) - could be responsible for dysmenorrhoea.

ADVICE:The patient should go for whole genome sequencing to find out the other mutations.

Comments

Post a Comment

Popular posts from this blog

1601006072 Long case

Image
This is an online E log book to discuss our patient's de-identified health data shared after taking his/her/guardian's signed informed consent. Here we discuss our individual patient's problems through series of inputs from available global online community of experts with an aim to solve those patient's clinical problems with collective current best evidence based inputs. This E log book also reflects my patient-centered online learning portfolio and your valuable inputs on the comment  40 year old male, labourer by occupation, low socioeconomic status from narketpalli came to opd with  Cheif complaints: Breathlessness since 1month Fever since 10 days Chest pain since 4 days History of present illness: Patient was apparently asymptomatic 1 month back, then developed Breathlessness which was insidious onset which used to be grade 2(MMRC)   and progressed to grade 4 since last 4 days with no postural or diurnal variation associated  with generalised weakness and  followe
Read more

50 year old male with chronic pancreatitis with mild ascites.

Image
Chief complaints:- A 50 year old male came, working as a daily wage labourer from Nagonda presented  to the casualty yesterday with the complaints of  Pain abdomen since 1 week. Hopi:-  Patient consumes around 90ml of whiskey everyday since the past 10 years and he also smokes 1 pack of cigarettes per day.  He was apparently alright 7 years back then he developed pain abdomen around umbilical region which was non radiating and dull aching in nature, present throughout the day and wasn't relieved on sitting or bending forward. He went to a local hospital when in he was admitted for 4 days and continued to consume the prescribed medications for 1 week post admission. He thereafter stopped consuming alcohol for 7 months post admission. He later continued consuming alcohol. 1 month later he developed a similar episode of pain abdomen for which he used the medications prescribed as per his previous hospital admission. 4 years back - He experienced pain abdomen for which he consulted a d
Read more

A 65 year old male with Compressive myelopathy(c5-c6);?SOL in right para vertebral region (D1-D5)and ?D11-L1? Hansen's disease under evaluation with pre renal AKI.

Image
This is an online E log book to discuss our patient's de-identified health data shared after taking his/her/guardian's signed informed consent. Here we discuss our individual patient's problems through series of inputs from available global online community of experts with an aim to solve those patient's clinical problems with collective current best evidence based inputs. This E log book also reflects my patient-centered online learning portfolio and your valuable inputs on the comment A 65 year old male, resident of Penpamad , came to casualty with c/o sudden onset of Unable to get up from the bed, unable to roll over, lift head above the pillow since 10days associated with pain in movements of the neck, radiating to B/L upper limbs right >left upto hand  Patient was apparently asymptomatic 10days back when he had burning micturition for 2- 3days not associated with fever but had generalised feeling of weakness for which he was treated outside with oral medications
Read more