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

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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  • Varieties of familial partial lipodystrophy, rare autosomal disorders, involve fat loss from extremities more than trunk; the Kobberling variety is more common but the defect is unknown.

    “Varieties of familial partial lipodystrophy, which are rare autosomal disorders, involve fat loss from the extremities more than the trunk.The Kobberling variety is more common, but the defect is unknown (97).”

    From Evaluation and Treatment of Hypertriglyceridemia: An Endocrine Society Clinical Practice Guideline (2012) · cites this paper as [97]

    The introductory section describes Kobberling-type FPLD as fat loss confined to the extremities, and the Body composition section says it may be more common than previously thought and that its genetic defect is unknown. The paper does not establish that all varieties are autosomal disorders: it says Kobberling-type FPLD may occur spontaneously and discusses a possible X-linked explanation. Nor does “more common than previously thought” establish that it is more common than other varieties. (LLM, conf=0.87)

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  1. Savage DB, Acerine C, Jebb S, Cinti S, Dixon A, Umpleby M, Vidal-Puig A, O'Rahilly S: Insight into the physiological effects of PPARg from humans with dom- inant negative mutations. In Proceedings of the First International Workshop on Li- poatrophic Diabetes. Bethesda, MD, Office of Rare Diseases, National Institutes of Health, 2001, p. 53

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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
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
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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