Abstract Details

Title Characterization of Hyperkalemic Periodic Paralysis: A Study of Genetically Diagnosed Individuals

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) P01 - (-)

Poster/Presentation
Number 114

Objective

Background BACKGROUND: HyperPP is a rare genetic disorder that causes episodes of flaccid paralysis. Disease descriptions in the literature are based upon isolated clinical encounters and case write-ups. This is the first study to describe the experience of a relatively large cohort of individuals genetically diagnosed with hyperPP.

Design/Methods DESIGN/METHODS: We conducted a thorough investigation of literature relevant to the clinical evaluation of hyperPP. Based on our findings and input from affected individuals, we created a rigorous 90-question survey assessing disease comorbidities, diagnostic testing, management, and quality of life. Genetically characterized individuals age 18 and over completed the survey online or on paper. After the close of the study, all data was collated and analyzed.

Results RESULTS: Subject age at time of sentinel paralytic attack ranged from infancy to 19 years, occurring in the second decade of life for 25% of subjects. On average, it took 19.4 years to arrive at the diagnosis of hyperPP. Thyroid dysfunction was a prevalent comorbidity (RR = 2.9, p < 0.0001). Reported attack triggers heretofore not described included alcohol, humidity changes, extra sleep, and menstruation. Over a quarter of subjects reported their breathing musculature has been affected during attacks. Regarding progressive myopathy, 30.4% reported the condition, with onset as young as age 20. Fifty percent of subjects, many of whom are not on medications, reported inadequate control of their disease.

Conclusions CONCLUSIONS: Age of first attack may be significantly older than infancy or childhood. Prevalence of thyroid dysfunction is markedly increased in this population. Formerly unrecognized triggers were reported. Bulbar muscle involvement in attacks is more prevalent than previously thought. A significant number of individuals are inadequately treated. This work paves the way for the development of evidence-based diagnostic and treatment algorithms.

Authors/Disclosures
Grace Charles PRESENTER	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file

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