Michelle Reyes, Associate Director of the HypoPARAthyroidism Association and patient, discusses the diagnosis and management of hypoparathyroidism.
Hypoparathyroidism is a rare endocrine disorder in which the parathyroid glands do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel.
Diagnosis of hypoparathyroidism can be challenging. About 75% of patients acquire the condition after an injury to the parathyroid glands, typically during surgery for another condition. However, around 25% of patients present with the genetic type, which usually involves a long diagnostic process. This is due to its presentation of seizures and neurological difficulties, where it often gets confused with other conditions.
Prior to this year, hypoparathyroidism was treated with over-the-counter vitamins and minerals such as calcium, vitamin D, and magnesium. The first U.S. Food and Drug Administration (FDA) approved treatment for hypoparathyroidism, palopegteriparatide, was made available in December 2024. Palopegteriparatide is a synthetic analog of PTH, which addresses the underlying pathophysiology of disease.
Ms. Reyes’ advice to newly diagnosed patients is to know that they are their own best advocate. While doctors may not be well educated on the disease upon their diagnosis, what is important is that their doctors are willing to learn with them as they begin their management and treatment journey.
To learn more about hypoparathyroidism and other rare endocrine disorders, visit https://checkrare.com/diseases/endocrine-disorders/