Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018
Summary: Background: Hypophosphatemic rickets is a rare, genetic syndrome with multisystem involvement. It causes skeletal abnormalities, painful enthesopathies, increased risk of fracture, and short stature; leading to a substantial burden of disease, disability, and worsening of quality of life....
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| Format: | Article |
| Language: | English |
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Elsevier
2022-03-01
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| Series: | The Lancet Regional Health. Americas |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2667193X21001277 |
| _version_ | 1818996967975419904 |
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| author | Jancy Andrea Huertas-Quintero, MD, MSc Natalia Losada-Trujillo, MD Diego Alberto Cuellar-Ortiz, MSc Harvy Mauricio Velasco-Parra, MD |
| author_facet | Jancy Andrea Huertas-Quintero, MD, MSc Natalia Losada-Trujillo, MD Diego Alberto Cuellar-Ortiz, MSc Harvy Mauricio Velasco-Parra, MD |
| author_sort | Jancy Andrea Huertas-Quintero, MD, MSc |
| collection | DOAJ |
| description | Summary: Background: Hypophosphatemic rickets is a rare, genetic syndrome with multisystem involvement. It causes skeletal abnormalities, painful enthesopathies, increased risk of fracture, and short stature; leading to a substantial burden of disease, disability, and worsening of quality of life. To improve health conditions of people living with this disease, it is essential to know its prevalence which is currently unknown in Colombia. This study aimed to estimate the prevalence of hypophosphatemic rickets in Colombia by using a mathematical model and national statistic records. Methods: We executed a model to estimate probabilities of transitions between health, disease, and death states (Markov chains). The model was fed with international prevalences taken from original studies (systematic review) and administrative records’ data from SISPRO (a national health information system) using the International Classification of Diseases (ICD-10) E833 code, vital statistics, and census data. World Health Organization's (WHO) DISMOD II software was used to develop the model. Findings: The estimated overall prevalence of hypophosphatemic rickets in Colombia in 2018 was 2·03 cases per 100 000 people (981 affected people), with a sensitive range of 1·97 to 2·09. The estimated prevalence by sex was 2·61 (645 people) and 1·43 (336 people) cases per 100 000 women and men, respectively. Interpretation: Our overall estimated prevalence shows consistency with original international data. This is the first prevalence estimation of hypophosphatemic rickets in Colombia and will be relevant to support public health decisions for rare diseases and to provide a pre-test probability framework in clinical practice. DISMOD II and the model are useful tools to estimate the prevalence of rare and orphan diseases, when probabilistic studies cannot be carried out. There are limited bibliographic resources worldwide reporting prevalence values supported by original studies. Our study can be used as a cost-effective methodology reference in this regard, especially for Latin America. Funding: Ultragenyx Pharmaceutical, as a donation. |
| first_indexed | 2024-12-20T21:38:09Z |
| format | Article |
| id | doaj.art-5dfe4a7f46694971a710e92952fde369 |
| institution | Directory Open Access Journal |
| issn | 2667-193X |
| language | English |
| last_indexed | 2024-12-20T21:38:09Z |
| publishDate | 2022-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | The Lancet Regional Health. Americas |
| spelling | doaj.art-5dfe4a7f46694971a710e92952fde3692022-12-21T19:25:54ZengElsevierThe Lancet Regional Health. Americas2667-193X2022-03-017100131Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018Jancy Andrea Huertas-Quintero, MD, MSc0Natalia Losada-Trujillo, MD1Diego Alberto Cuellar-Ortiz, MSc2Harvy Mauricio Velasco-Parra, MD3School of Medicine, Universidad Nacional de Colombia - Hospital Universitario Nacional de Colombia, Bogotá, Colombia; Ministry of Health and Social Protection of Colombia, Bogotá, Colombia; Corresponding author: Dr. J. Andrea Huertas-Quintero, Calle 44 # 59-75, 111321, Departamento de Medicina Interna, Hospital Universitario Nacional de Colombia. Bogotá, Colombia; Ph.: 57300 6167866School of Medicine, Universidad Nacional de Colombia - Hospital Universitario Nacional de Colombia, Bogotá, ColombiaMinistry of Health and Social Protection of Colombia, Bogotá, ColombiaSchool of Medicine, Universidad Nacional de Colombia - Hospital Universitario Nacional de Colombia, Bogotá, Colombia; SURA Ayudas DiagnósticasSummary: Background: Hypophosphatemic rickets is a rare, genetic syndrome with multisystem involvement. It causes skeletal abnormalities, painful enthesopathies, increased risk of fracture, and short stature; leading to a substantial burden of disease, disability, and worsening of quality of life. To improve health conditions of people living with this disease, it is essential to know its prevalence which is currently unknown in Colombia. This study aimed to estimate the prevalence of hypophosphatemic rickets in Colombia by using a mathematical model and national statistic records. Methods: We executed a model to estimate probabilities of transitions between health, disease, and death states (Markov chains). The model was fed with international prevalences taken from original studies (systematic review) and administrative records’ data from SISPRO (a national health information system) using the International Classification of Diseases (ICD-10) E833 code, vital statistics, and census data. World Health Organization's (WHO) DISMOD II software was used to develop the model. Findings: The estimated overall prevalence of hypophosphatemic rickets in Colombia in 2018 was 2·03 cases per 100 000 people (981 affected people), with a sensitive range of 1·97 to 2·09. The estimated prevalence by sex was 2·61 (645 people) and 1·43 (336 people) cases per 100 000 women and men, respectively. Interpretation: Our overall estimated prevalence shows consistency with original international data. This is the first prevalence estimation of hypophosphatemic rickets in Colombia and will be relevant to support public health decisions for rare diseases and to provide a pre-test probability framework in clinical practice. DISMOD II and the model are useful tools to estimate the prevalence of rare and orphan diseases, when probabilistic studies cannot be carried out. There are limited bibliographic resources worldwide reporting prevalence values supported by original studies. Our study can be used as a cost-effective methodology reference in this regard, especially for Latin America. Funding: Ultragenyx Pharmaceutical, as a donation.http://www.sciencedirect.com/science/article/pii/S2667193X21001277Rickets, HypophosphatemicOsteomalaciaprevalenceRare diseasesModels, StatisticalColombia |
| spellingShingle | Jancy Andrea Huertas-Quintero, MD, MSc Natalia Losada-Trujillo, MD Diego Alberto Cuellar-Ortiz, MSc Harvy Mauricio Velasco-Parra, MD Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018 The Lancet Regional Health. Americas Rickets, Hypophosphatemic Osteomalacia prevalence Rare diseases Models, Statistical Colombia |
| title | Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018 |
| title_full | Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018 |
| title_fullStr | Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018 |
| title_full_unstemmed | Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018 |
| title_short | Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018 |
| title_sort | hypophosphatemic rickets in colombia a prevalence estimation model in rare diseases 2018 |
| topic | Rickets, Hypophosphatemic Osteomalacia prevalence Rare diseases Models, Statistical Colombia |
| url | http://www.sciencedirect.com/science/article/pii/S2667193X21001277 |
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