Cited by 119Lipid metabolism and disordersNuclear Structure and FunctionGenomics and Rare Diseases

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Köbberling Type of Familial Partial Lipodystrophy

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Herbst, Karen L., Tannock, Lisa R., Deeb, Samir S., Purnell, Jonathan Q., Brunzell, John D., Chait, Alan·2003·Diabetes Care

DOI 10.2337/diacare.26.6.1819

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Abstract

OBJECTIVE: The phenotypic expression of partial lipodystrophy is present in two familial syndromes: familial partial lipodystrophy type 1 (FPLD1), with fat loss from the extremities, and central obesity and FPLD type 2, with fat loss from the extremities, abdomen, and thorax. The latter disorder is associated with mutations in the LMNA gene. FPLD1 is thought to be rare. Here, we report 13 subjects with FPLD1, suggesting that this syndrome is more common than previously thought. RESEARCH DESIGN AND METHODS: Fasting glucose, plasma lipids, leptin, HbA(1c), and anthropomorphic measurements were evaluated in 13 subjects with clinical features of FPLD1 and are compared with two age-matched control groups, with and without diabetes. RESULTS: Only women with clinical features of FPLD1 have been identified. Although they lack extremity and gluteal subcutaneous fat, they do have truncal obesity. Skinfold thickness on the arm and leg was significantly less than that in control subjects. The ratio of skinfold thickness from abdomen to thigh was significantly higher in subjects, suggesting an easy method for identifying affected patients. FPLD1 subjects also had components of the metabolic syndrome, including hypertension, insulin resistance, and severe hypertriglyceridemia resulting in pancreatitis. Premature coronary artery disease was present in 31% of subjects. None of the subjects had coding mutations in the LMNA gene or in the gene coding for peroxisome proliferator-activated receptor (PPAR)-gamma. CONCLUSIONS: FPLD1 is more common than previously described, but the diagnosis is often missed. Early recognition and intensive treatment of hyperlipidemia and diabetes in FPLD1 is important for prevention of pancreatitis and early cardiovascular disease.

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Authors: Herbst, K. L., Tannock, L. R., Deeb, S. S., Purnell, J. Q., Brunzell, J. D., & Chait, A.
Affiliations: University of Washington (US)
Oregon Health & Science University (US)
ORCID: Herbst, Karen L.
Tannock, Lisa R.
Purnell, Jonathan Q.
Brunzell, John D.
Chait, Alan
Venue: Diabetes Care
Publisher: American Diabetes Association
Published: 2003-06-01
Volume: 26
Issue: 6
Pages: 1819-1824
ISSN: 0149-5992 (ISSN-L)
1935-5548
DOI: 10.2337/diacare.26.6.1819
OpenAlex: W2086501247
Cited by: 119
References: 29
Citations by year: 2026: 4 · 2025: 3 · 2024: 6 · 2023: 3 · 2022: 9 · 2021: 4 · 2020: 7 · 2019: 8 · 2018: 7 · 2017: 8 · 2016: 4 · 2015: 8 · 2014: 2 · 2013: 5 · 2012: 7
FWCI: 2.20
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Diabetes Care (publishedVersion)
PubMed (publishedVersion)
Funders: National Institute of Diabetes and Digestive and Kidney Diseases (P01-DK 17047, DK02689-04, T32-DK-07247, K23DK002689, P30DK017047, T32DK007247)
National Center for Research Resources (M01-RR 00037, M01RR000037)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: LMNA gene, abdominal obesity, skinfold thickness, hypertriglyceridemia, pancreatitis, insulin resistance, metabolic syndrome, coronary artery disease, diabetes mellitus, PPARγ
MeSH terms: Anthropometry, Body Composition, Exons, Female, Humans, Lipodystrophy, Obesity, Skinfold Thickness, Syndrome, Transcription Factors, Washington, Receptors, Cytoplasmic and Nuclear, Leptin, Lamin Type A, White People

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Köbberling Type of Familial Partial Lipodystrophy

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