RT Journal Article
T1 LipoDDx: a mobile application for identification of rare lipodystrophy syndromes
A1 Rodríguez Carnero, María Gemma
A1 Cantón, Ana
A1 Santamaría-Nieto, Alicia
A1 Díaz-Ortega, Carmen
A1 Martínez-Rey, Carmen
A1 Antela, Antonio
A1 Muy-Pérez, Andrés E.
A1 Sánchez Iglesias, Sofía
A1 Araujo-Vilar, David
A1 Fernández Pombo, Antía
A1 Martínez Olmos, Miguel Ángel
A1 Villar Taibo, Rocío
A1 Hermida Ameijeiras, Álvaro
A1 Losada, Elena
A1 González Méndez, Blanca
K1 Lipodystrophy syndromes
K1 Algorithm
K1 Diagnosis
K1 LipoDDx
K1 Adipose tissue
K1 Mobile application
K1 Rare diseases
AB Background: Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated catabolism have been ruled out. With the exception of the HIV-associated lipodystrophy, they have a very low prevalence, which together with their large phenotypic heterogeneity makes their identification difficult, even for endocrinologists and pediatricians. This leads to significant delays in diagnosis or even to misdiagnosis. Our group has developed an algorithm that identifies the more than 40 rare lipodystrophy subtypes described to date. This algorithm has been implemented in a free mobile application, LipoDDx®. Our aim was to establish the effectiveness of LipoDDx®. Forty clinical records of patients with a diagnosis of certainty of most lipodystrophy subtypes were analyzed, including subjects without lipodystrophy. The medical records, blinded for diagnosis, were evaluated by 13 physicians, 1 biochemist and 1 dentist. Each evaluator first gave his/her results based on his/her own criteria. Then, a second diagnosis was given using LipoDDx®. The results were analysed based on a score table according to the complexity of each case and the prevalence of the disease. Results: LipoDDx® provides a user-friendly environment, based on usually dichotomous questions or choice of clinical signs from drop-down menus. The final result provided by this app for a particular case can be a low/high probability of suffering a particular lipodystrophy subtype. Without using LipoDDx® the success rate was 17 ± 20%, while with LipoDDx® the success rate was 79 ± 20% (p < 0.01).
PB BMC
YR 2020
FD 2020
LK http://hdl.handle.net/10347/32082
UL http://hdl.handle.net/10347/32082
LA eng
NO Araújo-Vilar, D., Fernández-Pombo, A., Rodríguez-Carnero, G. et al. LipoDDx: a mobile application for identification of rare lipodystrophy syndromes. Orphanet J Rare Dis 15, 81 (2020). https://doi.org/10.1186/s13023-020-01364-1
NO Project financed with an intramural grant from the Xunta de Galicia, ED341b 2017/19. S.S-I was awarded a Research Fellowship, granted by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP).
DS Minerva
RD 28 abr 2026