Publications by authors named "D Araujo-Vilar"
Article Synopsis
- * These disorders, including Dunnigan disease and other types of laminopathies, exhibit complex relationships between genetic variations and their physical manifestations, including signs of premature aging.
- * The review focuses on the molecular mechanisms behind adipose tissue issues in these conditions, their clinical characteristics, recent treatment options, and important points for correctly diagnosing them.
Article Synopsis
- The study aimed to evaluate the disease burden of familial partial lipodystrophy (FPLD) caused by genetic variants from LMNA and PPARG, with a focus on understanding these rare conditions linked to selective fat loss and metabolic issues.
- The research involved 157 patients from Turkey and Spain, revealing that symptoms typically appeared around 20 years after initial clinical signs, with notable differences in onset and severity between the two types of FPLD, particularly regarding diabetes and cardiovascular issues.
- Key findings indicate that FPLD2 is generally more severe than FPLD3, but the latter still poses significant metabolic risks; Turkish patients showed worse health outcomes like lower body mass index and higher prevalence of liver fat, with cardiovascular
Article Synopsis
- * A study involved 33 physicians from six countries who shared their experiences with diagnosing and managing lipodystrophy, highlighting themes like diagnostic challenges, impact on patient quality of life, treatment approaches, and barriers to accessing certain therapies.
- * The findings revealed that lipodystrophy cases are often misdiagnosed or overlooked, delaying treatment; physicians recommended early referrals to specialist teams, acknowledging the significant effects on patients' mental health and self-image.
Lipodystrophy syndromes are rare diseases primarily affecting the development or maintenance of the adipose tissue but are also distressing indirectly multiple organs and tissues, often leading to reduced life expectancy and quality of life. Lipodystrophy syndromes are multifaceted disorders caused by genetic mutations or autoimmunity in the vast majority of cases. While many subtypes are now recognized and classified, the disease remains remarkably underdiagnosed.
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