{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:22:49Z","timestamp":1791332569190,"version":"4.3.1"},"reference-count":29,"publisher":"American Diabetes Association","issue":"6","content-domain":{"domain":["diabetesjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2003,6,1]]},"abstract":"<jats:p>OBJECTIVE\u2014The 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.<\/jats:p>\n               <jats:p>RESEARCH DESIGN AND METHODS\u2014Fasting glucose, plasma lipids, leptin, HbA1c, 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.<\/jats:p>\n               <jats:p>RESULTS\u2014Only 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)-\u03b3.<\/jats:p>\n               <jats:p>CONCLUSIONS\u2014FPLD1 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.<\/jats:p>","DOI":"10.2337\/diacare.26.6.1819","type":"journal-article","created":{"date-parts":[[2007,3,5]],"date-time":"2007-03-05T22:51:27Z","timestamp":1173135087000},"page":"1819-1824","update-policy":"https:\/\/doi.org\/10.2337\/ada-journal-policies","source":"Crossref","is-referenced-by-count":107,"title":["Ko\u0308bberling Type of Familial Partial Lipodystrophy"],"prefix":"10.2337","volume":"26","author":[{"given":"Karen L.","family":"Herbst","sequence":"first","affiliation":[{"name":"Department of Medicine, University of Washington, Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa R.","family":"Tannock","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Washington, Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samir S.","family":"Deeb","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Washington, Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan Q.","family":"Purnell","sequence":"additional","affiliation":[{"name":"Department of Medicine, Oregon Health & Science University, Portland, Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John D.","family":"Brunzell","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Washington, Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Chait","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Washington, Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1167","reference":[{"key":"2022031217350395200_R1","unstructured":"Ko\u0308bberling J, Willms B, Katterman R, Creutzfeldt W: Diabetes mellitus und familia\u0308re, partielle lipoatrophie. 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