Publicação
Familial Partial Lipodystrophy, Dunnigan- type: 2 families identified in a genetic laboratory
| dc.contributor.author | Alves, Ana Catarina | |
| dc.contributor.author | Medeiros, Ana Margarida | |
| dc.contributor.author | Ferreira, Maria | |
| dc.contributor.author | Miranda, Beatriz | |
| dc.contributor.author | Moldavan, Oana | |
| dc.contributor.author | Travessa, André | |
| dc.contributor.author | Rodrigues, Márcia | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2026-03-09T13:04:27Z | |
| dc.date.available | 2026-03-09T13:04:27Z | |
| dc.date.issued | 2025-03-15 | |
| dc.description.abstract | Lipodystrophies are a clinically heterogeneous group of acquired or inherited disorders affecting adipose tissue distribution. familial partial lipodystrophy, Dunnigan-type (FPLD2, OMIM 151660) is the most prevalent subtype and is an autosomal dominant disease characterized by the selective absence of adipose tissue in the extremities and trunk, with fat accumulation in the face, neck, and supraclavicular region. Individuals exhibit a muscular, hypertrophic appearance, particularly in the lower limbs. Affected individuals are born with a normal fat distribution but may present hyperlipidemia in childhood and begin to progressively lose subcutaneous fat after puberty. Later in life, they frequently develop metabolic complications, including hypertriglyceridemia, insulin resistance, diabetes mellitus, hepatic steatosis, and hypertension. In women, acanthosis nigricans, hirsutism, menstrual irregularities, and polycystic ovarian disease are commonly observed. Notably, the phenotype appears more pronounced in females, potentially leading to underdiagnosis in males due to lighter physical changes. Approximately 75% of patients with a clinical diagnosis of FPLD2 reported in the literature carry the same LMNA variant, p.(Arg482Trp) in exon 6 of the Lamina gene (LMNA) The aim of this study was to clinically and molecularly characterize two Portuguese families with a clinical diagnosis of lipodystrophy. We present the clinical and genetic characterization of two kindreds with multiple affected family members of different ages. Sequencing of the LMNA gene was performed by PCR and direct sequencing of all exons. Both index cases were found to carry the most common LMNA variant in heterozygosity p.(Arg482Trp), a missense variant in exon 6. Family screening identified six additional heterozygous carriers in Family I (including two children) and four in Family II (including one children). Both index cases were women and exhibited the characteristic of FPLD2 phenotype. Given the high prevalence of premature and severe cardiovascular events in these patients, early diagnosis is crucial for implementing appropriate treatment strategies and preventing disease progression. The genetic diagnosis allows for an earlier diagnosis, granting a better clinical counselling regarding lifestyle modifications since adolescence and a personalized treatment plan to reduce their risk of coronary heart disease (CHD). | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11234 | |
| dc.language.iso | eng | |
| dc.peerreviewed | no | |
| dc.rights.uri | N/A | |
| dc.subject | Familial Partial Lipodystrophy Type 2 (FPLD2) | |
| dc.subject | LMNA Gene Mutation | |
| dc.subject | Insulin Resistance | |
| dc.subject | Hypertriglyceridemia | |
| dc.subject | Premature Cardiovascular Disease | |
| dc.subject | Doenças Cardio e Cérebro-vasculares | |
| dc.title | Familial Partial Lipodystrophy, Dunnigan- type: 2 families identified in a genetic laboratory | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-03-15 | |
| oaire.citation.conferencePlace | Lisboa, Portugal | |
| oaire.citation.title | Reunião do Grupo de Estudo de Lipodistrofias, Sociedade Portuguesa de Endocrinologia, Diabetes e Metabolismo (SPEDM), INSA, 15 março 2025 | |
| oaire.version | http://purl.org/coar/version/c_b1a7d7d4d402bcce |