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Paeds Casesgenetics-dysmorphology-and-metabolism

Paeds Cases · genetics-dysmorphology-and-metabolism

Communicating a new Wilson disease diagnosis — OSCE

OSCE communication and shared decision-making station: explaining to the parents of a 13-year-old boy what a new Wilson disease diagnosis means, why copper accumulated and caused the tremor and liver changes, what the lifelong treatment involves and why it must never be stopped, what the Kayser-Fleischer rings tell the clinician, the family screening obligations for his siblings, and the role of liver transplantation - while addressing guilt, the fear of a restricted life, and the question of cure.

osce communication and shared decision-making3 min readVerification in progress

Target exams

MRCPCH ClinicalRACP DCERCPSC Pediatrics
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Target exams

MRCPCH ClinicalRACP DCERCPSC Pediatrics
Prompt
The parents of a 13-year-old boy sit with you in the outpatient clinic. He has had a progressive tremor, slurred speech and deteriorating school performance for six months, and blood tests showed abnormal liver function. Slit-lamp examination revealed Kayser-Fleischer rings, and the integrated copper work-up has confirmed Wilson disease with a low ceruloplasmin, high urinary copper and biallelic ATP7B variants. His parents are frightened, feel they should have noticed sooner, worry that their son's life is over, and ask whether there is a cure. They also have two younger children. Counsel them.

Task

Counsel the parents. You have five minutes. Demonstrate an organised, empathic and accurate explanation that addresses the four questions a fellowship communication station rewards: what happened to their son and why, what the immediate and lifelong treatment is and why it must never be stopped, what the family screening means for their other children, and what the honest prognosis is - including the role of liver transplantation. The management framework follows the 2022 AASLD Practice Guidance. [1]

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References4ShowHide
  1. [1]Schilsky ML, Roberts EA, Bronstein JM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology, 2023.PMID 36152019
  2. [3]Schilsky ML. Wilson Disease: Diagnosis, Treatment, and Follow-up. Clin Liver Dis, 2017.PMID 28987261
  3. [7]Litwin T, Dzieżyc K, Członkowska A. Wilson disease-treatment perspectives. Ann Transl Med, 2019.PMID 31179305
  4. [9]Schilsky ML. Liver transplantation for Wilson's disease. Ann N Y Acad Sci, 2014.PMID 24820352
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