ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 63 P215 | DOI: 10.1530/endoabs.63.P215

Lipodistrophy, a rare disease: 'If you don't think about it, you doesn't diagnose it'

Rodriguez Pilar Ortega1, Lopez ME Valverde2, Martin M Lopez1, Roldan E Mayorga1, Rebollo I Perez1, Carrasco Pilar Salas3 & Araujo D Vilar4

1Juan Ramon Jiménez, Department Endocrinolgy, Huelva, Huelva, Spain; 2Hospital Juan Ramón Jiménez, Department Endocrinology, Huelva, Spain; 3Hospital Juan Ramon Jiménez, Genetics, Huelva, Spain; 4Asocciated professor University of medicine Santiago de Compostela, Santiago de Compostela, Spain.

Introduction: In the geographical area of southern Spain, in the province of Huelva, we have detected prevalent cases of Dunnigan’s partial hereditary lipodystrophy. The genealogy, the suspicion phenotype and the coordination with the Genetics Service and Reference center, have borne fruit, and more and more families are detected in Our Area. The lipodystrophies, in general, are rare diseases that affect the adipose tissue, disappearance of it in different parts of the body together with metabolic alterations: Insulin resistance and hypertriglyceridemia. Traditionally they have been classified as congenital and acquired. We present a clinical case, in which the suspicion of acquired lipodystrophy in relation to AIDS and TARGA therapy coincides, to which is added the clinical suspicion of genetic lipodystrophy. We request genetic study.

Clinical case: 62 year old woman HIV infection stage 2 in virological response, on antiretroviral treatment. DM2 bad control of 20 years of evolution. Severe diabetic retinopathy. Ischemic cardiopathy revascularized. Referred to Endocrinology, for treatment optimization, after family history and confirm the inspection, lipodystrophic phenotype, not located on the face and nasolabial fold, loss of the adipose panniculus in MMII, with increase of the adipose panniculus neck and cervical region, and increase of the abdominal perimeter. In treatment with Insulin in basal bolus pattern very poorly controlled Hba10%, Triglycerides> 600, HDL 15. LDL <100. After intensification with insulin therapy Degludec and Rapid Analogs (DTI 220), high potency statins and fibrates in association, the parameters at present Hba1c 7.5%. LDL 30, Tg 223, with stability of their underlying disease and maintenance of their TARGA therapy. Mutation C.1444> T (p.Arg 482 Trp) LMNA gene (Laminin A), compatible with Dunningan lipodystrophy, is confirmed.

Conclusion: The family history, the phenotype and the serious metabolic alterations should make us think about secondary etiologies, suspicion of pathology of less prevalent diseases. We have not found any association of LPD acquired by HAART therapy and basic genetic lipodystrophy, the coincidences exist, we must reflect: ‘not everything is what it seems.’

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