LipoDDx: a mobile application for identification of rare lipodystrophy syndromes

• DOI: 10.21203/rs.2.17014/v2
• Publication Date: 2020-01-13T22:38:42Z
• Authors: David Araujo-Vilar; Antia Fernández-P...; Gemma Rodríguez-C...; Miguel Angel Mart...; Ana Cantón; Rocio Villar-Taibo; Alvaro Hermida-Am...; Alicia Santamaría...; Carmen Díaz-Ortega; Carmen Martínez-Rey; Antonio Antela; Elena Losada; Andrés Muy-Pérez; Blanca González-M...; Sofía Sánchez-Igl...
• Keywords: Lipodystrophy; Medical record; Identification

Abstract Background: Lipodystrophy syndromes are a group of disorders characterized by loss adipose tissue once other situations nutritional deprivation or exacerbated catabolism have been ruled out. With the exception HIV-associated lipodystrophy, they very low prevalence, which together with their large phenotypic heterogeneity makes identification difficult, even for endocrinologists and pediatricians. This leads to significant delays in diagnosis misdiagnosis. Our has developed an algorithm that identifies more than 40 rare lipodystrophy subtypes described date. implemented free mobile application, LipoDDx®. aim was establish effectiveness LipoDDx®.40 clinical records patients certainty most were analyzed, including subjects without lipodystrophy. The medical records, blinded diagnosis, evaluated 13 physicians, 1 biochemist dentist. Each evaluator first gave his/her results based on own criteria. Then, second given using analysed score table according complexity each case prevalence disease. Results: LipoDDx® provides user-friendly environment, usually dichotomous questions choice signs from drop-down menus. final result provided this app particular can be low/high probability suffering subtype. Without success rate 17 ± 20%, while 79 20% (p <0.01). Conclusions: is enables lipodystrophies around 80% effectiveness, will help doctors who not experts field.