GM Elog Case-1

RISHIK
R.no: 37

42 Year old woman 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, clinical findings, investigations and come up with a diagnosis and treatment plan. 

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

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

As the patient has multiple health events pertaining to various systems  In the below discussion I tried to correlate various possibilities of associations between the presenting complaints so as to narrow down the possible underlying pathologies ( Not trying to fit them under one umbrella, but just tried to correlate various symptoms ). 

Following is my analysis of this patient's problem:

The problems in order of priority I found are 

1) Increased Pain tolerance

2) Increased Hair growth and PCOS

3) Recurrent edema

4) CNS Problems and transient vision loss

And the the reason for problem (as analyzed by me)

1.) Increased tolerance to pain 

Increased tolerance to pain can be due to  variety of factors that alter pain threshold like emotional stress, ethnicity, and  chronic illness like fibromyalgia, as she has a family history of fibromyalgia there is a chace of corresponding gene involvement (alters the pain threshold ) but in this case the patient also complaints of Anhydrosis so there is possible chance of CIPA, a HSAN-4, where there is mutation of NTRK1 gene. 

 

Further history or evaluation of the patient for temperature regulation is necessary. 

And my proposed solution is to ruleout fibromyalgia and CIPA in the patient

Investigations:

1. Skin Biposy to look for eccrine glands

2. Nerve Biposy to look for unmyelinated and Small myelinated fibers

Treatment:

As there is no proper treatment for CIPA, patient should be educated and self care should be followed

Fibromyalgia can be treated by using NSAIDs and Muscle relaxants. 

2.)Increased Hair growth and PCOS

Increased Hair growth (patient started shaving at the age of 3 years) and PCOS (diagnosed at the age of 22 years) can be due to Increased Levels of androgens and decreased estrogen. Decreased estrogen also lead to weak bones and thus easy fractures ( patient has history of multiple fractures)

 Her PCOS can also explain the Ectopic Pregnancy, Increased Hair loss

Further history of the patient related to Precocious Puberty is necessary to differentiate Central or Peripheral Precocious puberty (usually ovarian cysts are associated with Peripheral Precious puberty)  and any other skin involvement. 

 

And my proposed solution is to ruleout all the peripheral causes of precocious puberty like Adrenal tumors, Pitutary tumors, McCune-Albright syndrome, a rare genetic disorder that affects the skin color and bones and causes hormonal problems. 

Investigations:

1. Radiographic imaging of pituitary and adrenals

2. levels of Testosterone, estrogens

Treatment:

Hormonal management

3.) Recurrent Edema

Recurrent Edema can be due to transudate leak,there should be decreased oncotic pressure due to decreased solutes in the plasma (which also explain her edema getting better on talking salt). As the major solutes are plasma proteins synthesized by liver we need to ruleout any liver pathology.

And my proposed solution is that further evaluation of Liver is necessary and also to ruleout angioedema. 

Investigations:

1. LFT 

2. SPEP

Treatment:

Treat the underlying cause of liver disease. 

4.) CNS problems

 Recurrent edema due transudate leak, there is a decrease in the whole Blood volume (by decreasing the plasma volume) then there can be hypoperfusion to her brain and Chronic hypoperfusion to central nervous system explain the weakness of limbs.

My proposed solution is to rule out TIA, any focal lesions in brain. 

Investigations:

1. CT and MRI of Brain

2. Carotid angiography to look for blood flow. 

3. CSF analysis

Treatment:

Treat the underlying disease once confirmed

Further Study 

It is necessary to have further information regarding her Immune panel and any other associated complaints like fever, rash, Her Fluid analysis reports. 

It is also mentioned that she woke up from Surgery two times so we further need information regarding the Anesthesia used and why is the drug less effective in her?

As she has Multiple Genes involved in her medical condition there is chance of wide spread Metabolic disturbances leading to her present condition. 

As she is on multiple medications it is important to ruleout the side effects of these which might present as a symptom. 

It is very much important to find out the allergens causing her edema and avoiding them.

References:

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

2.Online Resources.