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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:
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.
1/7 Next ChapterManagement 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.
2/7 Next ChapterManagement of GL patients - discussion
The panel of experts discuss and provide their insight into the management of patients with generalised lipodystrophy.
3/7 Next ChapterOptimum 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.
4/7 Next ChapterOptimum management of PL patients - discussion
The panel of experts discuss and provide their insight into optimum management of patients with partial lipodystrophy.
5/7 Next ChapterEnabling patient advocacy and empowerment
The panel of experts discuss the benefits of patient advocacy including highlighting the symptoms that matter the most to them.
6/7 Next ChapterConclusions
7/7 Leave FeedbackLearning 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
- Akinci B, et al. J Clin Endocrinol Metab 2019;104:5120-5135.
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- Foss-Freitas MC, et al. Expert Rev Endocrinol Metab 2020;15:95-114.
- Simsir IY, et al. Diabetes Obes Metab 2017;19:299-301.