Huntington’s Disease (HD) is an incurable, hereditary, neurodegenerative disorder characterized by involuntary movements, loss of cognitive function and personality changes. HD symptoms progressively worsen after the clinical diagnosis, resulting in death over 15-20 years. Worldwide HD affects an estimated 3-7 per 100,000 people of European ancestry, however, in Puerto Rico the HD prevalence is unknown. The Fundación Huntington Puerto Rico (FHPR) is a nonprofit organization with the mission to reduce health disparities and improve the quality of life of the people living with HD. When the FHPR was established in 2016, the HD community in Puerto Rico was an invisible and underserved population and our main objective became to identify all unknown cases of HD.
The research methodology consisted of educating and advocating about HD by the publication of articles in local newspapers, offering radio and TV interviews, conferences, and educating the healthcare professionals to become knowledgeable in HD. Once the families emerged, we performed home visits to obtain the sociodemographic information.
Our results show that we have identified and confirmed, through genetic testing or family history, 99 persons living with HD. In accordance with the autosomal inheritance of HD, 52% are male and 48% are females. We identified adult onset patients at early, middle and advanced disease stages and juvenile cases. We also have identified 253 people at risk of developing HD and created 31 pedigrees. These results represent 28.2% of the island (22 out of 78 municipalities). We conclude that, although it is premature to be established, the estimate reported in this study suggests a prevalence of 2 (1.68) per 100,000 people affected by HD, implying that the prevalence of HD in Puerto Rico might be similar to that reported worldwide.
These numbers are likely to be underestimated due to the limited quantity of municipalities examined. This work was supported by The Griffin Foundation and the Comisión Especial Conjunta de Fondos Legislativos para Impacto Comunitario.