Lipodystrophies—Disorders of the Fatty Tissue
Open accessAbstract
Lipodystrophies are a heterogeneous group of physiological changes characterized by a selective loss of fatty tissue. Here, no fat cells are present, either through lack of differentiation, loss of function or premature apoptosis. As a consequence, lipids can only be stored ectopically in non-adipocytes with the major health consequences as fatty liver and insulin resistance. This is a crucial difference to being slim where the fat cells are present and store lipids if needed. A simple clinical classification of lipodystrophies is based on congenital vs. acquired and generalized vs. partial disturbance of fat distribution. Complications in patients with lipodystrophy depend on the clinical manifestations. For example, in diabetes mellitus microangiopathic complications such as nephropathy, retinopathy and neuropathy may develop. In addition, due to ectopic lipid accumulation in the liver, fatty liver hepatitis may also develop, possibly with cirrhosis. The consequences of extreme hypertriglyceridemia are typically acute pancreatitis or eruptive xanthomas. The combination of severe hyperglycemia with dyslipidemia and signs of insulin resistance can lead to premature atherosclerosis with its associated complications of coronary heart disease, peripheral vascular disease and cerebrovascular changes. Overall, lipodystrophy is rare with an estimated incidence for congenital (<1/1.000.000) and acquired (1–9/100.000) forms. Due to the rarity of the syndrome and the phenotypic range of metabolic complications, only studies with limited patient numbers can be considered. Experimental animal models are therefore useful to understand the molecular mechanisms in lipodystrophy and to identify possible therapeutic approaches.
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Fifty percent of women with familial partial lipodystrophy develop diabetes and 20-35% develop irregular periods and polycystic ovaries.
“Fifty percent of women develop diabetes and 20–35% develop irregular periods and polycystic ovaries [177].”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [177]
Section 3, “Partial Congenital Lipodystrophy,” reports that over 50% of women with familial partial lipodystrophy develop diabetes, rather than exactly 50%. It reports irregular menstrual cycles and polycystic ovaries in about 20–35% of patients, but does not give that percentage specifically for women. (LLM, conf=0.83)
Experimental — accuracy not yet measuredPatients with familial partial lipodystrophy have normal fat distribution at birth but lose SAT in the limbs, buttocks and hips, at puberty.
“In contrast to generalized lipodystrophy, patients with familial partial lipodystrophy have normal fat distribution at birth but loose SAT in the limbs, buttocks and hips, at puberty.”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [177]
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Valério, C. M., de Almeida, J. S., Moreira, R. O., Aguiar, L. B. S., Siciliano, P. D. O., de Carvalho, D. P., & Godoy‐Matos, A. F. (2017) · Diabetology & Metabolic Syndrome · doi:10.1186/s13098-017-0226-0 · Cited by 24 · see citing works
Charar, C., & Gruenbaum, Y. (2016) · Clinical Science · doi:10.1042/cs20160488 · Cited by 23 · see citing works
Mouse Models of Lipodystrophy and Their Significance in Understanding Fat Regulation
Rochford, J. J. (2014) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/b978-0-12-397920-9.00005-6 · Cited by 22 · see citing works
Pοlyzos, S. A., & Mantzoros, C. S. (2017) · Metabolism · doi:10.1016/j.metabol.2017.06.003 · Cited by 19 · see citing works
Limitation of adipose tissue by the number of embryonic progenitor cells
Hedbacker, K., Lu, Y.-H., Dallner, O. S., Li, Z., Fayzikhodjaeva, G., Birsoy, K., Han, C., Yang, C., & Friedman, J. M. (2020) · eLife · doi:10.7554/elife.53074 · Cited by 13 · see citing works
A characterisation of low-grade inflammation and metabolic complications in HIV-infected patients.
Andersen, O. (2016) · PubMed · Cited by 7 · see citing works
Blümer, R. M. E., van der Valk, M., Ackermans, M. T., Endert, E., Serlie, M. J. M., Reiss, P., & Sauerwein, H. P. (2009) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.90988.2008 · Cited by 6 · see citing works
Glitazone loaded fat enhances adiponectin production and inhibits breast cancer cell proliferation
Shea, J., Terry, C. M., Edwards, K., & Agarwal, J. P. (2019) · Molecular Biology Reports · doi:10.1007/s11033-019-05094-x · Cited by 5 · see citing works
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1 of the 93 references couldn’t be matched to a known paper.
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PGC-1α affects skeletal muscle and adipose tissue development by regulating mitochondrial biogenesis
Kong, S., Cai, B., & Nie, Q. (2022) · Molecular Genetics and Genomics · doi:10.1007/s00438-022-01878-2 · Cited by 125 · see citing works
Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment
Parker, J., O’Brien, C., Hawrelak, J., & Gersh, F. L. (2022) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph19031336 · Cited by 114 · see citing works
“Lipodystrophies are a heterogenous group of rare inherited and acquired disorders characterized by a selective loss of adipose tissue (176,186).”
BackgroundPolycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment
parker, J., O'Brien, C., Hawrelak, J., & Gersh, F. (2021) · doi:10.20944/preprints202112.0088.v1 · Cited by 113 · see citing works
The Genetic Basis of Hypertriglyceridemia
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Surplus fatty acid synthesis increases oxidative stress in adipocytes and induces lipodystrophy
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Leptin treatment has vasculo-protective effects in lipodystrophic mice
Stürzebecher, P. E., Kralisch, S., Schubert, M. R., Filipova, V., Hoffmann, A., de Oliveira, F. S., Sheikh, B. N., Blüher, M., Kögel, A., Scholz, M. R., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2110374119 · Cited by 24 · see citing works
Role of GALNT2 on Insulin Sensitivity, Lipid Metabolism and Fat Homeostasis
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Leptin Improves Parameters of Brown Adipose Tissue Thermogenesis in Lipodystrophic Mice
Hoffmann, A., Ebert, T., Hankir, M. K., Flehmig, G., Klöting, N., Jeßnitzer, B., Lössner, U., Stümvoll, M., Blüher, M., Faßhauer, M., et al. (2021) · Nutrients · doi:10.3390/nu13082499 · Cited by 13 · see citing works
White adipose tissue in type 2 diabetes and the effect of antidiabetic drugs
Zhao, Y., & Yue, R. (2025) · Diabetology & Metabolic Syndrome · doi:10.1186/s13098-025-01678-9 · Cited by 12 · see citing works
Lipid droplet dynamics in metabolic regulation
Weiskirchen, R., Weiskirchen, S., & Lonardo, A. (2026) · RSC Chemical Biology · doi:10.1039/d6cb00081a · Cited by 11 · see citing works
Polarity-Tuned Lipid Droplet-Specific Probe for Heart Failure Imaging
Xu, W., Liu, C., Cai, W., Zhang, J., Wang, X., Zhang, Q., Zhou, X., Li, J., Qian, Z., & Zhou, J. (2025) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.5c01354 · Cited by 10 · see citing works
Plasma Exosome miRNAs Profile in Patients With ST-Segment Elevation Myocardial Infarction
Guan, R., Zeng, K., Zhang, B., Gao, M., Li, J., Jiang, H., Liu, Y., Qiang, Y., Liu, Z., Li, J., et al. (2022) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2022.848812 · Cited by 10 · see citing works
Vieira, D. B., Antel, J., Peters, T., Miehle, K., Stümvoll, M., Hebebrand, J., & Schlögl, H. (2022) · Obesity Facts · doi:10.1159/000526357 · Cited by 8 · see citing works
DIDO is necessary for the adipogenesis that promotes diet-induced obesity
García-López, M. Á., Mora, A., Corrales, P., Pons, T., de Diego, A. S., Gutiérrez, A., van Wely, K. H. M., Medina‐Gómez, G., Sabio, G., Martínez‐A, C., et al. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2300096121 · Cited by 6 · see citing works
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Appendicular Skeletal Muscle Mass Prediction in People Living With HIV: A Cross-sectional Study
dos Santos, A. P., Navarro, A. M., da Silva, L. S. L., Erlandson, K. M., Webel, A. R., Oliveira, V. H. F., Abdalla, P. P., Alves, T. C., Júnior, M. F. T., Venturini, A. C. R., et al. (2023) · Journal of the Association of Nurses in AIDS Care · doi:10.1097/jnc.0000000000000400 · Cited by 5 · see citing works
The Goldilocks for chronic weight management—Balancing quantity with quality of weight loss
Henriksen, K., Chakravarthy, M. V., Bager, C. L., Larsen, A. T., Mohamed, K. E., & Karsdal, M. A. (2025) · Diabetes Obesity and Metabolism · doi:10.1111/dom.16379 · Cited by 4 · see citing works
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Cao, Z., Zhao, Y., Liu, R., Yan, X., Wang, J., & Chen, N. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1414908 · Cited by 3 · see citing works
Wu, C. W., Liu, H., Tu, L.-J., & Hu, J. (2024) · World Journal of Diabetes · doi:10.4239/wjd.v15.i12.2360 · Cited by 3 · see citing works
Chang, C., Yu, S.-S., Ho, L., Chao, S.-H., Chou, T.-Y., Shao, A., Kao, L., Chang, C.-Y., Chen, Y., Wu, M.-S., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24043904 · Cited by 3 · see citing works
Role of Na/K-ATPase α1 caveolin-binding motif in adipogenesis
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Primär genetische Dyslipoproteinämien und Atheroskleroserisiko
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A Rare Case of Congenital Generalized Lipodystrophy
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Looking Beyond the Hemoglobin A1c
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Diagnosis of Congenital and Acquired Generalized Lipodystrophies—Similarities and Differences
Lima, J. G., Lima, L. N., Araujo, V. Y. B., Nóbrega, L. H. C., & Campos, J. T. A. D. M. (2025) · Endocrines · doi:10.3390/endocrines6040055
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DPP4 Substrate Supplementation Protects From WNT‐Induced Lipid Depletion in Dermal Adipocytes
Madhavan, S. R., Moore, P., Ma, Q., & Atit, R. P. (2026) · Experimental Dermatology · doi:10.1111/exd.70354
- Authors
- Knebel, B., Müller-Wieland, D., & Kotzka, J.
- Affiliations
- Deutsches Diabetes-Zentrum e.V. (DE)
- Clinical Research Center, Department of Internal Medicine I, University Hospital Aachen, 52074 Aachen, Germany
- German Diabetes-Center, Leibniz Center for Diabetes Research at Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany
- Venue
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Published
- 2020-11-20
- Volume
- 21
- Issue
- 22
- Pages
- 8778
- ISSN
- 1422-0067 (ISSN-L)
- PMC
- PMC7699751
- OpenAlex
- W3101865772
- Cited by
- 39
- References
- 93
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 11 · 2023: 6 · 2022: 9 · 2021: 2
- FWCI
- 0.54
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Molecular Sciences (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RWTH Publications (RWTH Aachen) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- RWTH Publications (RWTH Aachen)
- Topics
- Health Sciences › Medicine › Physiology › Adipose Tissue and Metabolism
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
- Keywords
- lipodystrophy, adipose tissue loss, ectopic fat deposition, hepatic steatosis, insulin resistance, hypertriglyceridemia, pancreatitis, eruptive xanthoma, diabetes complications, premature atherosclerosis, congenital lipodystrophy, acquired lipodystrophy, adipogenesis, adipocyte apoptosis
- MeSH terms
- Acyltransferases, Adipose Tissue, Animals, Coronary Disease, Diabetes Mellitus, Disease Models, Animal, Fatty Liver, Humans, Insulin Resistance, Lipodystrophy, Pancreatitis, Xanthomatosis, Hypertriglyceridemia, Lamin Type A, Atherosclerosis, Body Fat Distribution, Lipid Metabolism
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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