Objective: To explore the understanding and conceptualization of Huntington’s disease (HD) genetics and pathology among HD patients and family caregivers in Peru.

Background: HD is an autosomal dominant, late-onset incurable neurodegenerative disease. HD-affected patients and families in the developed world typically have extensive disease education and genetic counseling. In contrast, there are no genetic counselors in Peru, and disease education is conducted by the neurologist during patient visits. Little is known about HD disease understanding amongst HD families in this context.

Methods: Individuals with HD and their family caregivers were recruited for participation at the Neurogenetics Research Center of the Instituto Nacional de Ciencias Neurológicas (INCN) in Lima, Peru, and at rural neurology campaigns conducted in Cañete province. Study participants were recruited as part of a larger study on HD quality of life. Qualitative, semi-structured interviews were conducted with 13 patients and 25 caregivers. All interviews were recorded, transcribed, and analyzed in Spanish by two co-investigators using thematic analysis.

Results: The key disease misconception among interviewees involved a “genetics plus” explanation of HD: the disease is “genetic” or “hereditary” but at the same time due to causes as varied as trauma, alcohol, smoking, malnutrition, or curiously, contact with Koreans (due to confusion over the term, “Huntington’s Chorea”). The misconceptions frequently cause increased guilt, regret, and distress among patients and families for past actions that are perceived as having led to HD.  The second main finding of the study relates to “HD disease risk calculation errors”: some interviewees thought that since the disease was genetic, offspring were guaranteed to have the disease, while others estimated their risk at around 2-5%. Others thought that the disease only affected a single gender, or that they could not transmit the disease if they were still asymptomatic.

Conclusions: Many patients and caregivers affected by HD in Peru have an incomplete understanding of the cause and transmission of HD. In environments where it is not feasible to train specialized genetic counselors or provide extensive personalized education on HD, a brief disease education guide for use and local cultural adaptation by physicians or other allied health professionals would be useful to address misunderstandings surrounding the cause and genetics of HD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/myths-and-misconceptions-regarding-huntingtons-disease-in-peru/