Study of phenotypic and genetic characteristics in men with familial partial lipodystrophy
Authorship
L.R.C.
Bachelor of Medicine
L.R.C.
Bachelor of Medicine
Defense date
06.20.2025 09:00
06.20.2025 09:00
Summary
Familial partial lipodystrophy type 2 (FPLD2) is a rare condition, but that doesn't mean its diagnosis isn't important. It´s a disease that is mostly inherited in a dominant manner, the diagnosis should be as high in women as men. However, there is a clear imbalance in favor of the women, and in the case of the men, a large proportion of the diagnoses are due to female relatives. Due to this, different variables were analyzed, comparing men already diagnosed with those susceptible to the condition. The aim was to create a scoring system that would allow rapid, simple and highly specific diagnosis of men. Furthermore, the problem men were genetically studied using Sanger gene typing and NGS to verify the presence or absence of any diagnostic variant. Imaging tests, such as bone densitometry, were also analyzed to assess adipose tissue distribution and determine whether there were significant abnormalities. It is concluded that a scoring system was designed, which allows to identify, with a 90% specificity, those men with clinical suspicion.
Familial partial lipodystrophy type 2 (FPLD2) is a rare condition, but that doesn't mean its diagnosis isn't important. It´s a disease that is mostly inherited in a dominant manner, the diagnosis should be as high in women as men. However, there is a clear imbalance in favor of the women, and in the case of the men, a large proportion of the diagnoses are due to female relatives. Due to this, different variables were analyzed, comparing men already diagnosed with those susceptible to the condition. The aim was to create a scoring system that would allow rapid, simple and highly specific diagnosis of men. Furthermore, the problem men were genetically studied using Sanger gene typing and NGS to verify the presence or absence of any diagnostic variant. Imaging tests, such as bone densitometry, were also analyzed to assess adipose tissue distribution and determine whether there were significant abnormalities. It is concluded that a scoring system was designed, which allows to identify, with a 90% specificity, those men with clinical suspicion.
Direction
ARAUJO VILAR, DAVID (Tutorships)
ARAUJO VILAR, DAVID (Tutorships)