touchROUNDTABLE

Challenges in the diagnosis and management of lipodystrophy

Watch Time: 72 mins

Faculty Presenters: Prof. Elif A. Oral, Prof. Barış Akıncı, Prof. Ferruccio Santini

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This activity has been sponsored by Amryt Pharmaceuticals DAC. Amryt Pharmaceuticals DAC provided financial support and has had input into the selection of the faculty and the detailed project scope. This activity is provided by Touch Medical Communications (TMC) for touchENDOCRINOLOGY.

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This activity has been sponsored by Amryt Pharmaceuticals DAC. Amryt Pharmaceuticals DAC provided financial support and has had input into the selection of the faculty and the detailed project scope. This activity is provided by Touch Medical Communications (TMC) for touchENDOCRINOLOGY.

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General Endocrinology View Time: 72 mins

touchROUNDTABLE Challenges in the diagnosis and management of lipodystrophy

Watch leading experts, Professors Elif Oral, Barış Akıncı, and Ferruccio Santini discuss challenges in the diagnosis and management of lipodystrophy.

Prof. Elif A. Oral

University of Michigan, Ann Arbor, MI, USA

CHAIR

Panelists:
Prof. Barış Akıncı, Prof. Ferruccio Santini
 
Introduction to lipodystrophy and diagnosis

Prof Oral presents an overview of the classification of lipodystrophy syndromes, the key characteristics and assessments for diagnosis, and general guideline recommendations for disease management.

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Management of generalised lipodystrophy (GL) patients

Prof. Akinci presents a case study of a patient with generalised lipodystrophy including the patient’s experience of the disease and the impact of metreleptin treatment.

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Management of GL patients - discussion

The panel of experts discuss and provide their insight into the management of patients with generalised lipodystrophy.

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Optimum management of partial lipodystrophy (PL) patients

Prof. Santini presents a case study of a patient with partial lipodystrophy including their clinical history, metabolic profile and anthropometric parameters.

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Optimum management of PL patients - discussion

The panel of experts discuss and provide their insight into optimum management of patients with partial lipodystrophy.

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Enabling patient advocacy and empowerment

The panel of experts discuss the benefits of patient advocacy including highlighting the symptoms that matter the most to them.

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Conclusions
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Learning Objectives & Overview
Overview

Patients with lipodystrophy are at serious risk of morbidity and mortality,1 underlining the importance of timely diagnosis and management to slow down the progression of comorbidities, and improve survival and quality of life. In this activity leading experts discuss challenges in the diagnosis and management of lipodystrophy.

Learning Objectives

This touchROUNDTABLE activity aims to:

  • Improve awareness among endocrinologists of the presentation of lipodystrophy syndromes and the burden of the patient
  • Support early diagnosis and referral to specialist centres
  • Provide guidance on the optimum management to prevent long term complications
  • In a heterogenous lipodystrophy population, provide guidance on appropriate patient selection for leptin replacement therapy, dose escalation and stopping criteria
Faculty & Disclosures
Prof. Elif A. Oral

University of Michigan,
Ann Arbor, MI, USA

Prof. Oral is an inventor of the method of use patent for “metreleptin in the treatment of lipoatrophy, lipodystrophy, lipoatrophic diabetes and related conditions”

Prof. Elif A. Oral discloses: Consultancy fees from Amryt Pharmaceuticals DAC. Grant support via University of Michigan for consultancy from Akcea Therapeutics, Ionis Pharmaceuticals, Rhythm Pharmaceuticals and Regeneron Pharmaceuticals. Grant support from Gemphire Therapeutics, GI Dynamics and Novo Nordisk.

Prof. Barış Akıncı

University of Michigan, Ann Arbor, MI,
USA & Dokuz Eylul University, Turkey

Prof. Barış Akıncı is a key global opinion leader in the diagnosis & management of lipodystrophy. Prof. Akıncı received his M.D. degree from Ege University, he completed his residency in internal medicine and his clinical fellowship in endocrinology in Turkey. Prof. Akıncı is a clinical professor at Dokuz Eylul University, Turkey. He worked with Dr. Abhimanyu Garg at UT Southwestern in the US. Since 2018, he has been working with Dr. Elif Oral at the University of Michigan in the US. Prof. Akıncı is the founder of the Turkish Lipodystrophy Study Group. His research focuses on the natural history of lipodystrophy, and the link to metabolic abnormalities and end-organ complications. Prof. Akıncı is a board member of the European Consortium of Lipodystrophies (ECLip) and has more than 100 published articles about endocrine disorders, diabetes, lipodystrophy syndromes, and leptin.

Prof. Barış Akıncı discloses: consultancy fees from Amryt Pharmaceuticals DAC.

Prof. Ferruccio Santini

University Hospital of Pisa, Pisa, Italy

Prof. Ferruccio Santini leads the Obesity and Lipodystrophy Centre at the University Hospital of Pisa. He graduated in medicine from Pisa University in 1985, where he continued his training to achieve his specialisation in Endocrinology in 1988. From 1990 to 1993 he was a researcher at the Division of Endocrinology, University of California Los Angeles, performing laboratory-based research on thyroid hormone metabolism. In 1996 he obtained his PhD in Endocrinological and Metabolic Sciences. He is a clinical academic at the University of Pisa, as a Professor of Endocrinology, and leads specialist services at the University Hospital of Pisa – designated a Centre for Obesity Management by the European Association for the Study of Obesity and member of the European Consortium of Lipodystrophies (ECLip).

Prof. Santini has published over 170 articles in peer reviewed journals, related to his clinical and laboratory research interests in thyroid diseases, obesity and lipodystrophies. He is an Associate Editor of The Journal of Endocrinological Investigation, past President of the Italian Society of Obesity, and member of several scientific societies.

Prof. Ferruccio Santini discloses: consultancy fees from Amryt Pharmaceuticals DAC.

Adverse Events
Adverse Events

Adverse reactions should be reported to Amryt Pharmaceuticals DAC by email medinfo@amrytpharma.com or by telephoning the free phone number: 00800 4447 4447. Adverse reactions can also be reported via the Yellow Card Scheme at yellowcard.mhra.gov.uk or search for MHRA Yellow Card in the Google Play or Apple App Store.

References
References
  1. Akinci B, et al. J Clin Endocrinol Metab 2019;104:5120-5135.
  2. Garg A. N Engl J Med. 2004;350:1220-34.
  3. Chan JL & Oral EA. Endocr Pract. 2010;16:310-23.
  4. Garg A. Am J Med. 2000;108:143-52.
  5. Misra A & Garg A. Medicine 2003;82:129-46.
  6. Misra A, et al. Medicine 2004;83:18-34.
  7. Altay C, et al. Diagn Interv Radiol. 2017;23(6):428-434
  8. Meral R, et al. Diabetes Care. 2018;41(10):2255-2258.
  9. Araújo-Vilar D, et al. Orphanet J Rare Dis. 2020;15(1):81.
  10. Akinci B, et al. Curr Diab Rep 2018;18:143.
  11. Brown RJ, et al. J Clin Endocrinol Metab 2016;101:4500-4511.
  12. Foss-Freitas MC, et al. Expert Rev Endocrinol Metab 2020;15:95-114.
  13. Simsir IY, et al. Diabetes Obes Metab 2017;19:299-301.
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