Long considered a calcium deficiency, hypoparathyroidism is actually a disease caused by a hormonal deficit. Rare, it is nonetheless heavy with consequences for the patients concerned. On the occasion of the International Day of the disease this June 1, the biotech Amolyt Pharma and the Hypopara France Association have joined forces to raise awareness among the general public and health professionals.
Chronic fatigue that manifests as a weight on the shoulders, uncontrolled muscle contractions, trouble concentrating, joint pain and permanent brain fog. Here are some of the many symptoms that patients with hypoparathyroidism suffer from. This rare disease, which affects approximately 16,000 patients in France, mainly affects women and most of the time occurs following thyroid surgery.
How does this disease arise?
In 75% of cases, patients underwent neck surgery – thyroidectomy for thyroid cancer being the most common. It is during this delicate and complex intervention that one or more of the 4 tiny parathyroid glands located nearby is damaged or devascularized. However, these glands secrete parathormone, the key hormone in the regulation of serum calcium, which also participates in the regulation of the kidneys.
Most of the time, fortunately, the glands resume their secretory function spontaneously after a few weeks or months. But in 3 to 4% of cases, hypoparathyroidism becomes permanent and therefore considered chronic.
Insufficient support
In the absence of hormone replacement, the treatment of this disease consists of compensating for this mineral by administering a large dose in combination with active vitamin D. However, despite this treatment, patients continue to suffer from persistent symptoms. Not to mention that the treatments induce serious adverse effects, such as hypercalciuria, which can affect long-term kidney health.
The biotechnology company Amolyt Pharma is studying the possibility of a future substitution treatment based on eneboparatide, “an experimental therapeutic peptide that acts (…) on (a) parathyroid hormone (PTH) receptor to induce a prolonged effect on calcium metabolism and thereby control the symptoms of hypoparathyroidism”. A phase 3 study is currently being launched, with first results expected in early 2025.
A degraded quality of life
Pending the development of more effective treatments, this context weighs heavily on the quality of life of patients. Which also face the ignorance of many doctors and the confusion of diagnoses. “Anxiety is mistaken for depression, memory loss for aging…”describes Natalie Grosset, patient and founder – honorary president of the Hypopara France Association. “The link with the disease is not always made, even if a notable progress has been made over the past ten years. In particular thanks to patient associations.”
It is to advance even further towards a better knowledge of the disease that the Amolyt laboratory and the Hypopara France Association have launched an awareness campaign on the occasion of the international day of the disease this Thursday 1er June, based on representation by artists. “Discussions between artists and patients in the United States and France have resulted in the creation of two works of art, representing how patients with hypoparathyroidism cope with the disease”. In France, patients shared their experience with Miss A, alias Audrey Thirial.
To note : Some hypoparathyroidisms are of non-surgical origin. They can be autoimmune or genetically isolated.