ESPE Abstracts (2021) 94 ERN1.2

ESPE2021 Endo-ERN Symposium Endo-ERN Symposium (3 abstracts)

Patient expectation and unmet needs in XLH

Martha Kirchhoff


Phosphatdiabetes e.V., Lippstadt, Germany

The aim of the lecture is to show the expectations and unmet needs of people affected by X-linked hypophosphatemia. As XLH is a rare disease, these patients face the same problems as most of other rare disease causes, but there are additional burdens in XLH, related to the specifics of the disorder. X-linked hypophosphatemia is a rare inherited metabolic bone disease, which can also be caused by a spontaneous mutation. There is an alteration in the Phex gene what leads to renal phosphate wasting, reduced intestinal phosphate absorption and a deficient Vitamin D activation. The list of symptoms and clinical manifestations of this complex disorder is long. They may change and get worse during life. The course of the illness, as well as appearance and severity of the symptoms differ extremely, even within one family. XLH is a chronic, progressive, and lifelong disorder. It affects all areas and all stages of life. It does not only have an impact on the individual, but on the families, society, and health care system. For XLH is not fully understood, it demands not only the patients, but also the clinicians. XLH is a disabling and challenging disease, leading to a reduced quality of life. As main topics, expectations and needs change during a life time, treatment and therapy management have continuously to be adapted. There is a lack of knowledge on both sides, patients, and clinicians. To understand the expectation and needs of people suffering from XLH, it is essential to look at the totality of influence factors of this disease on life. The knowledge of expectations and unmet needs of patients with XLH could help to improve their therapy management and care.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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