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Hereditary lipodystrophy

MedGen UID:
1383706
•Concept ID:
C4511302
•
Disease or Syndrome
Synonym: Genetic lipodystrophy
SNOMED CT: Genetic lipodystrophy (724841000)
 
Monarch Initiative: MONDO:0020087
Orphanet: ORPHA98305

Definition

An instance of lipodystrophy that is caused by an inherited genomic modification in an individual. [from MONDO]

Professional guidelines

PubMed

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.
Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R
J Clin Invest 2018 Jul 2;128(7):3041-3052. Epub 2018 Jun 11 doi: 10.1172/JCI98814. PMID: 29649002Free PMC Article
Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.
McDermott A, Jacks J, Kessler M, Emanuel PD, Gao L
Int J Dermatol 2015 Feb;54(2):121-9. Epub 2014 Dec 18 doi: 10.1111/ijd.12695. PMID: 25521013
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Dierick I, Baets J, Irobi J, Jacobs A, De Vriendt E, Deconinck T, Merlini L, Van den Bergh P, Rasic VM, Robberecht W, Fischer D, Morales RJ, Mitrovic Z, Seeman P, Mazanec R, Kochanski A, Jordanova A, Auer-Grumbach M, Helderman-van den Enden AT, Wokke JH, Nelis E, De Jonghe P, Timmerman V
Brain 2008 May;131(Pt 5):1217-27. Epub 2008 Mar 5 doi: 10.1093/brain/awn029. PMID: 18325928

Recent clinical studies

Etiology

Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS).
Kanazawa N, Ishii T, Takita Y, Nishikawa A, Nishikomori R
Pediatr Rheumatol Online J 2023 Apr 22;21(1):38. doi: 10.1186/s12969-023-00817-8. PMID: 37087470Free PMC Article
Severe insulin resistance syndromes.
Angelidi AM, Filippaios A, Mantzoros CS
J Clin Invest 2021 Feb 15;131(4) doi: 10.1172/JCI142245. PMID: 33586681Free PMC Article
HIV and antiretroviral therapy-related fat alterations.
Koethe JR, Lagathu C, Lake JE, Domingo P, Calmy A, Falutz J, Brown TT, Capeau J
Nat Rev Dis Primers 2020 Jun 18;6(1):48. doi: 10.1038/s41572-020-0181-1. PMID: 32555389
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.
Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R
J Clin Invest 2018 Jul 2;128(7):3041-3052. Epub 2018 Jun 11 doi: 10.1172/JCI98814. PMID: 29649002Free PMC Article
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.
Bonne G, Quijano-Roy S
Handb Clin Neurol 2013;113:1367-76. doi: 10.1016/B978-0-444-59565-2.00007-1. PMID: 23622360

Diagnosis

HIV and antiretroviral therapy-related fat alterations.
Koethe JR, Lagathu C, Lake JE, Domingo P, Calmy A, Falutz J, Brown TT, Capeau J
Nat Rev Dis Primers 2020 Jun 18;6(1):48. doi: 10.1038/s41572-020-0181-1. PMID: 32555389
New data in causes of autoinflammatory diseases.
Kone-Paut I, Georgin-Laviallec S, Galeotti C, Rossi-Semerano L, Hentgen V, Savey L, Saadoun D, Sarrabay G, Touitou I
Joint Bone Spine 2019 Oct;86(5):554-561. Epub 2018 Nov 22 doi: 10.1016/j.jbspin.2018.11.003. PMID: 30471422
Periodic fever syndromes.
Lachmann HJ
Best Pract Res Clin Rheumatol 2017 Aug;31(4):596-609. Epub 2018 Jan 11 doi: 10.1016/j.berh.2017.12.001. PMID: 29773275
Autoinflammatory diseases in pediatrics.
Hausmann JS, Dedeoglu F
Dermatol Clin 2013 Jul;31(3):481-94. Epub 2013 Jun 2 doi: 10.1016/j.det.2013.04.003. PMID: 23827250
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.
Bonne G, Quijano-Roy S
Handb Clin Neurol 2013;113:1367-76. doi: 10.1016/B978-0-444-59565-2.00007-1. PMID: 23622360

Therapy

Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS).
Kanazawa N, Ishii T, Takita Y, Nishikawa A, Nishikomori R
Pediatr Rheumatol Online J 2023 Apr 22;21(1):38. doi: 10.1186/s12969-023-00817-8. PMID: 37087470Free PMC Article
Development and Clinical Applications of Antisense Oligonucleotide Gapmers.
Chan L, Yokota T
Methods Mol Biol 2020;2176:21-47. doi: 10.1007/978-1-0716-0771-8_2. PMID: 32865780
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.
Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R
J Clin Invest 2018 Jul 2;128(7):3041-3052. Epub 2018 Jun 11 doi: 10.1172/JCI98814. PMID: 29649002Free PMC Article
Periodic fever syndromes.
Lachmann HJ
Best Pract Res Clin Rheumatol 2017 Aug;31(4):596-609. Epub 2018 Jan 11 doi: 10.1016/j.berh.2017.12.001. PMID: 29773275
Autoinflammatory diseases in pediatrics.
Hausmann JS, Dedeoglu F
Dermatol Clin 2013 Jul;31(3):481-94. Epub 2013 Jun 2 doi: 10.1016/j.det.2013.04.003. PMID: 23827250

Prognosis

Membranous lipodystrophy: skeletal findings on CT and MRI.
Nwawka OK, Schneider R, Bansal M, Mintz DN, Lane J
Skeletal Radiol 2014 Oct;43(10):1449-55. Epub 2014 Apr 29 doi: 10.1007/s00256-014-1887-5. PMID: 24777445
Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy.
Khalife WI, Mourtada MC, Khalil J
Tex Heart Inst J 2008;35(2):196-9. PMID: 18612489Free PMC Article
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.
Cho HJ, Sung DH, Ki CS
Muscle Nerve 2007 Sep;36(3):384-6. doi: 10.1002/mus.20792. PMID: 17486577
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
Chaouch M, Allal Y, De Sandre-Giovannoli A, Vallat JM, Amer-el-Khedoud A, Kassouri N, Chaouch A, Sindou P, Hammadouche T, Tazir M, Lévy N, Grid D
Neuromuscul Disord 2003 Jan;13(1):60-7. doi: 10.1016/s0960-8966(02)00196-7. PMID: 12467734

Clinical prediction guides

Lipoabdominoplasty: Comparing UAL Versus UAL/PAL Techniques on Complication Profile and Patient Safety.
Duran A, Buyukdogan H
Aesthetic Plast Surg 2024 Feb;48(3):369-375. Epub 2023 Nov 14 doi: 10.1007/s00266-023-03741-0. PMID: 37962624
Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS).
Kanazawa N, Ishii T, Takita Y, Nishikawa A, Nishikomori R
Pediatr Rheumatol Online J 2023 Apr 22;21(1):38. doi: 10.1186/s12969-023-00817-8. PMID: 37087470Free PMC Article
Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.
Bonnekoh H, Butze M, Kallinich T, Kambe N, Kokolakis G, Krause K
Acta Derm Venereol 2020 Mar 25;100(7):adv00091. doi: 10.2340/00015555-3427. PMID: 32147748Free PMC Article
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.
Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R
J Clin Invest 2018 Jul 2;128(7):3041-3052. Epub 2018 Jun 11 doi: 10.1172/JCI98814. PMID: 29649002Free PMC Article
Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: lesion staging and dynamic changes of axons and microglial subsets.
Oyanagi K, Kinoshita M, Suzuki-Kouyama E, Inoue T, Nakahara A, Tokiwai M, Arai N, Satoh JI, Aoki N, Jinnai K, Yazawa I, Arai K, Ishihara K, Kawamura M, Ishizawa K, Hasegawa K, Yagisita S, Amano N, Yoshida K, Terada S, Yoshida M, Akiyama H, Mitsuyama Y, Ikeda SI
Brain Pathol 2017 Nov;27(6):748-769. Epub 2017 Mar 2 doi: 10.1111/bpa.12443. PMID: 27608278Free PMC Article

Recent systematic reviews

Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature Syndrome: A Systemic Review.
Altom A, Khader SAE, Gad AG, Anadani R, Dang DP, Ansar F, Chaudhari J, Crespo-Quezada J, Huy NT
Am J Dermatopathol 2023 Jun 1;45(6):355-370. Epub 2023 Feb 17 doi: 10.1097/DAD.0000000000002345. PMID: 37191371

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