The DOI matches its Crossref record; 28 of the 29 references it cites were found in a registry or an index.
Köbberling Type of Familial Partial Lipodystrophy
Open accessAbstract
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, 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]
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Nuclear Lamins: Their Structure, Assembly, and Interactions
Stuurman, N., Heins, S., & Aebi, U. (1998) · Journal of Structural Biology · doi:10.1006/jsbi.1998.3987 · Cited by 726
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
Shackleton, S., Lloyd, D. J., Jackson, S. N. J., Evans, R. S., Niermeijer, M. F., Singh, B. M., Schmidt, H., Brabant, G. E., Kumar, S., Durrington, P. N., et al. (2000) · Nature Genetics · doi:10.1038/72807 · Cited by 701
Cao, H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.1.109 · Cited by 668
Cnop, M., Landchild, M. J., Vidal, J., Havel, P. J., Knowles, N. G., Carr, D. R., Wang, F., Hull, R. L., Boyko, E. J., Retzlaff, B. M., et al. (2002) · Diabetes · doi:10.2337/diabetes.51.4.1005 · Cited by 432
American Diabetes Association: clinical practice recommendations 1996.
(1996) · PubMed · Cited by 428
Garg, A. (2000) · The American Journal of Medicine · doi:10.1016/s0002-9343(99)00414-3 · Cited by 375
Speckman, R. A., Garg, A., Du, F., Bennett, L. B., Veile, R. A., Oral, E. A., Taylor, S. I., Lovett, M., & Bowcock, A. M. (2000) · The American Journal of Human Genetics · doi:10.1086/302836 · Cited by 273
Agarwal, A. K., & Garg, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.1.8290 · Cited by 269
PPARG F388L, a Transactivation-Deficient Mutant, in Familial Partial Lipodystrophy
Hegele, R. A., Cao, H., Frankowski, C., Mathews, S. T., & Leff, T. (2002) · Diabetes · doi:10.2337/diabetes.51.12.3586 · Cited by 263
Meirhaeghe, A. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.435 · Cited by 207
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- 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 dominant negative mutations. In Proceedings of the First International Workshop on Lipoatrophic Diabetes. Bethesda, MD, Office of Rare Diseases, National Institutes of Health, 2001, p. 53
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Items 101–119 of 119
Acquired Acral Lipodystrophy in a 6‐Year‐Old Girl
Maffeis, L., Vercellesi, P., Corona, F., Forzenigo, L. V., & Gelmetti, C. M. (2009) · Pediatric Dermatology · doi:10.1111/j.1525-1470.2009.00987.x
Font, J. X. F. (2008) · TDX (Tesis Doctorals en Xarxa)
LMNA (Lamin A/C), PPARγ遺伝子に変異を認めず感音性難聴，成長障害を認めるKöbberling型の先天性部分型リポジストロフィーの長期観察例
悠, 佐., 大久保, 久., 冨永博之, 健一, 富., 研三, 飯., 田尻祐司, Maegawa, H., 厚典, 柏., 順子, 小., 熊谷, 秋., et al. (2008) · 糖尿病 · doi:10.11213/tonyobyo.51.849
Altered regulation of adipogenesis with respect to disease processes
Davies, S. J. (2017) · Cork Open Research Archive (University College Cork, Ireland)
Nonobese, Nonketotic Childhood-Onset Diabetes: Look for Lipodystrophies
Chakraborty, P. P., Ray, S., Pramanik, S., Bhattacharjee, R., Ghosh, S. K., & Chowdhury, S. (2017) · Clinical Diabetes · doi:10.2337/cd16-0055
Seltene Formen einer Insulinresistenz: Das Köbberling-Syndrom
Aberer, F., Sourij, H., & Mader, J. K. (2019) · Journal für Klinische Endokrinologie und Stoffwechsel · doi:10.1007/s41969-019-00076-7
Lipodistrofia tipo Köbberling, una enfermedad subdiagnosticada
Guillén, D. C., Guillén, A. C., & Barrantes, J. R. C. (2021) · Revista de la Facultad de Medicina de la Universidad de lberoamérica · doi:10.54376/rcmui.v3i2.64
Garg, A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-812535-9.00002-9
Mochel, M. C., Marques, M. E. A., & Hoang, M. P. (2020) · Springer eBooks · doi:10.1007/978-3-030-35820-4_12
Current literature in diabetes
(2004) · Diabetes/Metabolism Research and Reviews · doi:10.1002/dmrr.485
Ceccarini, G., Gilio, D., & Santini, F. (2022) · L Endocrinologo · doi:10.1007/s40619-022-01107-3
The Lipodystrophy Syndromes: Clinical Features and Treatments
Mattingly, M., Valencia, A., Cochran, E. K., Brown, R. J., & Görden, P. (2018) · American Diabetes Association eBooks · doi:10.2337/9781580406666.ch03
Approach to the Patient with Lipid Disorders
Lee, K. M. S., & Yassine, H. N. (2015) · Springer eBooks · doi:10.1007/978-3-319-11161-2_6
López, G. V., Sanchez, C. M., Fernández, E., Jiménez, C. R., & Sanz, M. L. (2026) · Endocrinología Diabetes y Nutrición · doi:10.1016/j.endinu.2026.501778
Güler, M. Ç., Foss‐Freitas, M. C., Şimşir, İ. Y., Yosef, M., Ashmus, M., Khalatbari, S. H., Gilio, D., Guler, D., Kaba, D., GOMES, A. D., et al. (2026) · Journal of the Endocrine Society · doi:10.1210/jendso/bvag155
López, G. V., Sánchez, C. M., Fernández, E. G., Jiménez, C. R., & Sanz, M. L. (2026) · Endocrinología Diabetes y Nutrición (English ed ) · doi:10.1016/j.endien.2026.501778
Metadata
- 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)
- 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
- 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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