LEARNING THROUGH CLINICAL PROBLEM SOLVING (A CASE OF CHOREA)



Hello Everyone! I am Mythili, a 2 nd year MBBS student and I have chosen to explore a case of CHOREA through this year's clinical problem solving conference


The following is the link for this semi structured case:
(http://snehakalyankar.blogspot.com/2021/12/chorea.html) 

My objective for today would be to
 *Prepare a problem list and Identify the patient problem solution requirements in terms of priority 

 *Suggest current standard evidence based solutions (mentioning the RCT evidence available in a PICO format) 
 
 *Suggest innovative solutions (mentioning how they may design an ethical trial to scale their proposed innovative solution

MAKING A PROBLEM LIST

Let us  understand the entire problem  by using a time line
The problems can be classified as
  • The problems patient came to us with( abnormal movements, behavioral problems, ulcers, fever) 
  • The problems we found through investigations (Increased copper Secretary levels,) 
so we can conclude the problems are in the order of priority
1) Abnormal movements
2) Ulcers
3) Acute Pharyngitis
4) Behavioral problems
5) Handling investigation results

EVIDENCE BASED SOLUTIONS


Based on the diagnosis there are only two ways to follow either treat the disease or cure the disease
Since the patient has been suffering from an early age we will first see what all are the treatment used before The patient arrived at our hospital
The following is the treatment plan that was followed


Here we started on
Tab Augmentin 625mg po bd
Tab levocitrezine 10mg po od
Salt water gargles 
Momate f cream for local application bd
Mupirocin gel for local application bd

Guidelines for treatment

 There are currently no consensus nor formal guidelines for the treatment of chorea in patients with BHC. 
Most of the treatment is in regards to the clinical manifestations



Multiple reports have described single cases treated with a variety of agents including 
TETRABENAZINE
TRIHEXYPHENIDYL, 
CORTICOSTEROIDS,
SODIUM VALPROATE,
PROPRANOLOL, 


The below link gives a case study of a single case regarding sodium valproate on how it reduced the symptoms
(http://dx.doi.org/10.1016/j.jns.2011.09.013) 


 Levodopa has been the most consistent in providing symptomatic improvement  predominantly when given during childhood, and in conjunction with physiotherapy. 

(http://dx.doi.org/10.1016/j.braindev.2011.04.007) 

PROPOSED THERAPIES

Future development of strategies and novel therapies may also need to be developed
This can be achieved when we know what exactly caused the disease and by controlling the manifestations that follow
Symptomatic improvement with levodopa therapy in some cases may indicate a window of opportunity for treatment 



Improved understanding of the clinical spectrum and pathogenic mechanisms governing this condition will 
 future multicenter, longitudinal collaborative studies, new laboratory disease models, development of novel therapeutic approaches, and large-scale clinical trials.

Reference

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502401/

https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea

https://www.ncbi.nlm.nih.gov/books/NBK185066/#nkx2-1-dis.REF.inzelberg.2011.301

http://www.medscape.com/viewarticle/808552_6

https://monarchinitiative.org/disease/OMIM:215450

http://www.omim.org/118700

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