Whole Body, Whole Life, Whole Family: Patients' Perspectives on X-Linked Hypophosphatemia.

The rare genetic disorder X-linked hypophosphatemia (XLH) is often exclusively considered to impact children, and, as such, adult patients with XLH may receive inadequate care because their symptoms are not associated with XLH. However, studies have shown that XLH has long-term adverse health consequences that continue throughout adulthood requiring comprehensive lifelong care. Indeed, XLH impacts patients' whole body, whole life, and whole family. XLH does not just affect the bones; symptoms are chronic and progressive, worsening throughout adulthood, and the burden of XLH overflows into the lives of a patient's family, friends, peers, and colleagues. To ensure early recognition, comprehensive care, and adequate management of XLH, there are key steps that clinicians can incorporate into their daily practice. These include education, a multidisciplinary approach, open communication, and support. Clinician education on rare disorders such as XLH is critical, and healthcare professionals (HCPs) should ensure that patients and their caregivers have access to XLH-related information. As a whole-body disorder, XLH requires a coordinated approach to treatment across specialties. Frequent open communication among members of the healthcare team is needed to increase HCPs' knowledge about XLH, and open communication must extend to the patient as well to ensure the patient's concerns and needs are addressed and treatment is tailored to their specific individual needs. Multiple networks of support, including social and psychological support, should be offered to patients and their families. A basic understanding that XLH affects patients' whole bodies, whole lives, and whole families is the first step toward accomplishing improved patient care.

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney, putting them at risk of severe hypoglycaemia and secondary metabolic perturbations. Good glycaemic/metabolic control through strict dietary treatment and regular doses of uncooked cornstarch (UCCS) is essential for preventing hypoglycaemia and long-term complications. Dietary treatment has improved the prognosis for patients with GSDIa; however, the disease itself, its management and monitoring have significant physical, psychological and psychosocial burden on individuals and parents/caregivers. Hypoglycaemia risk persists if a single dose of UCCS is delayed/missed or in cases of gastrointestinal intolerance. UCCS therapy is imprecise, does not treat the cause of disease, may trigger secondary metabolic manifestations and may not prevent long-term complications. We review the importance of and challenges associated with achieving good glycaemic/metabolic control in individuals with GSDIa and how this should be balanced with age-specific psychosocial development towards independence, management of anxiety and preservation of quality of life (QoL). The unmet need for treatment strategies that address the cause of disease, restore glucose homeostasis, reduce the risk of hypoglycaemia/secondary metabolic perturbations and improve QoL is also discussed.