Specialists, patients and politicians together for an event dedicated to thinking about the critical issues encountered in the diagnosis, clinical management and services to support those who live every day with hypoparathyroidism, a rare endocrine disease.
The event triggered a real “Call to Action” aimed at European and national political institutions, so that they concretely address the challenges experienced by patients. The participants’ appeal reflected the belief shared by stakeholders that policies on rare diseases must go beyond aspects related to diagnosis and clinical management, also addressing the social, cognitive and economic consequences associated with living with a chronic endocrine disease such as hypoparathyroidism.
For people living with this disease, closing regulatory gaps is essential so that the success of care is also measured through patients’ ability to live, work and participate fully in society.
A pathology worth knowing
Chronic hypoparathyroidism is an endocrine disease characterized by a deficiency of parathyroid hormone (PTH) and persistent alterations of calcium-phosphorus metabolism. In Italy it is estimated that at least 10-12 thousand patients are affected, in most cases following thyroid surgery. The picture determines multisystem effects that can manifest with severe and potentially life-threatening acute symptoms, as well as highly disabling chronic complications, including neuromuscular irritability, impaired renal function, extraskeletal calcifications and cognitive disorders. These complications constitute a significant socioeconomic burden, directly compromising patients’ ability to work and significantly reducing their quality of life.
The pathology also presents a marked gender disparity: approximately 80% of those affected are women. Many patients continue to report an unsatisfactory quality of life and limitations in physical function and general well-being. For this reason, many patients require a multidisciplinary approach aimed at managing long-term complications and associated cognitive and psychological manifestations, such as “brain fog”, anxiety and depression.
The patient experience
The discussion paid particular attention to the direct experience of people living with hypoparathyroidism. The pathology predominantly affects women, has a profound impact on family life and causes significant socio-economic consequences: around a third of patients are unable to work.
“Living with hypoparathyroidism means living with a fragile balance, which can change rapidly and affect work, travel, family and the very possibility of making plans. As patients we ask that the quality of care does not depend on the country or region in which we live: we need specialized centres, multidisciplinary paths, clear protocols for emergencies and fair access to innovative therapies. Treatment cannot be measured only through laboratory values, but also by the possibility of living, working and building one’s future”
is the request of Marta Cecconi, President of APPI – Association of Patients with Hypoparathyroidism in Italy.
A tailor-made action plan
The Call to Action identifies a series of interconnected policy objectives at European level to concretely improve the lives of people affected by rare diseases such as hypoparathyroidism.
- A European Action Plan for Rare Diseases that addresses the problems common to rare diseases, including the lack of data availability and consequent late diagnosis, the fragmentation of care pathways and inequalities in access to care.
- Promote health equity and work inclusion as part of the EU Agenda for Quality Work. Ensure people with chronic rare diseases have adequate adaptations to the working environment, flexible working arrangements and personalized social support measures.
- Include endocrine diseases in the European Commission-WHO Joint Initiative on Women’s Health. Strengthen scientific evidence disaggregated by sex and gender, increase awareness and promote appropriate approaches to screening, diagnosis and management of endocrine pathologies that predominantly affect the female population.
- Develop a specific European approach to brain health. Recognize the cognitive and physiological impact of chronic endocrine diseases and promote appropriate assessment, awareness-raising and multidisciplinary care activities.
- Define national integrated clinical pathways for rare post-surgical pathologies. Implement comprehensive care models that integrate surgical risk reduction, specialized clinical management throughout the lifespan and adequate social protection measures for rare chronic conditions of post-surgical origin, such as hypoparathyroidism.
