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You are here: Home / Education / E-learning / ECTS Webinar Series Bone, Muscle & Beyond / Hypophosphatasia: diagnosis, symptoms and management

Hypophosphatasia: diagnosis, symptoms and management

Live Webinar: 9 September 2021, 4 pm CET 

Organised by ECTS

Date & Time: 9 September 2021, 4 pm CET

Featuring Carola Zillikens and moderated by Liesbeth Winter

Costs: Live webinar is free for ECTS members and non-members, but a registration is required. Recordings are accessible to ECTS members only.

Format:

  • 5 min welcome & introductions
  • 35 min presentation
  • 20 min Q&A

Learning Objectives:

  • Be aware of the relevance of low serum levels of ALP and why to pay attention
  • Have knowledge on the different types of hypophosphatasia and the clinical severity and symptoms
  • Know about supportive treatment options and effects of Asfotase Alfa

 

The Hypophosphatasia , Brussels, Belgium, 09-09-2021 has been accredited by the European Accreditation Council for Continuing Medical Education (EACCME®) with 1 European CME credits (ECMEC®s).
Each medical specialist should claim only those hours of credit that he/she actually spent in the educational activity.”

Watch webcast

Carola Zillikens, MD, PhD, is Professor and staff member at the Department of Internal Medicine, section Endocrinology, of Erasmus Medical Center Rotterdam, the Netherlands. She founded and heads the Erasmus MC Bone Center, a multidisciplinary expertise center for patients with common and rare disorders of calcium and bone metabolism.

She is past President of the Dutch Society for Calcium and Bone Metabolism and a past Board Member of ECTS where she chaired the Professional Practice Committee. She is a member of the Steering committee of the European Reference Network for rare bone disorders, BOND.

Her research topics concern the (genetic) background of unexplained familial osteoporosis, rare disorders of calcium, phosphate and bone metabolism, atypical femur fractures and the relation of osteoporosis with chronic diseases and mortality. She is coordinating a Dutch national registry for chronic hypophosphatemia, including XLH. She has co-authored over 250 papers

Moderated by Liesbeth Winter

Elizabeth M. Winter is internist-endocrinologist at the Leiden University Medical Center (LUMC), Leiden, the Netherlands since 2017. She holds a tenure track position as clinician scientist in the field of Bone and Mineral disorders. She combines clinical activities with teaching and research. Her researches focusses on rare metabolic bone diseases and the role of circadian rhythmicity in bone and its relation with glucocorticoid signaling. She is an active member of the ECTS Academy and various committees within the bone field.

Abstract

Breast cancer cells frequently disseminate to the bone marrow, where they may either enter a dormant state or colonize the bone and induce osteolysis. The mechanisms that regulate tumor cell entry and exit from dormancy in the bone are not well understood, but several factors have been identified. Previous work from our group found that leukemia inhibitory factor receptor (LIFR) promotes tumor dormancy when expressed on bone-disseminated tumor cells and that loss of LIFR enables otherwise dormant tumor cells to colonize the bone. Our lab has therefore examined how LIFR expression is regulated in breast cancer cells, with the hope that understanding its regulation might provide novel avenues to therapeutically target dormant disseminated tumor cells. Through these efforts we have found that LIFR is epigenetically regulated, and that histone deacetylase (HDAC) inhibitors, which are FDA-approved for several blood cancers, stimulate LIFR expression on breast cancer cells from all subtypes. This finding presents an interesting therapeutic opportunity to explore whether HDAC inhibitors may be used to promote a chronic state of tumor dormancy and prevent recurrence in bone. Our findings suggest that this may be feasible, but that the effects of histone deacetylase inhibitors on bone remodeling profoundly impact tumor colonization and must be combined with appropriate anti-resorptive therapies.

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