Hypoparathyroidism is a rare endocrine disorder characterized by a deficiency of parathyroid hormone (PTH), which leads to decreased serum calcium and increased phosphorus levels in the blood.
Etiology
The most common cause of hypoparathyroidism is unintended damage or removal of the parathyroid glands during head or neck surgery. Other potential causes include genetic mutations or syndromes, autoimmune destruction of parathyroid tissues, immune checkpoint inhibitors, magnesium deficiency or excess, infiltration of parathyroid tissue, parathyroid gland radiation injury, acute illness or severe burn, maternal familial hypocalciuric hypercalcemia, or idiopathic.
Signs and Symptoms
Common signs and symptoms of this disease include:
- Weakness
- Muscle cramps
- Excessive nervousness
- Headaches
- Uncontrollable twitching and cramping spasms of certain muscles (hands, feet, arms, legs, and/or face)
- Numbness and tingling around the mouth, fingers, and toes
- New-onset seizures
- Tetany
Complications of hypoparathyroidism often include kidney disease and kidney stones, abnormal bone structure, cataracts, cognitive dysfunction, cardiac arrhythmias, anxiety, and depression.
Severity of symptoms varies with calcium level and duration of parathyroid dysfunction.
Diagnosis
Hypoparathyroidism is typically diagnosed with laboratory studies that demonstrate low corrected calcium levels and decreased or undetectable parathyroid hormone levels. Other findings that may support a hypoparathyroidism diagnosis include:
- Elevated serum phosphorus
- Decreased 1,25-dihydroxyvitamin D
- Elevated urinary fractional calcium excretion levels
Management Strategies and Treatment
Standard of care treatment for this disease is typically short-term symptom management with large doses of oral calcium and active vitamin D with additional supplementation of magnesium. Recent advancements have led to the use of recombinant parathyroid hormone as a replacement therapy for those unresponsive to supplementation treatment.
The U.S. Food and Drug Administration has recently approved Yorvipath (palopegteriparatide) for the treatment of adults with hypoparathyroidism.
Clinical Trials and Studies
For a full list of clinical trials relating to hypoparathyroidism, click here.
Resources
HypoPARAthyroidism Association
References
Hans SK, Levine SN. Hypoparathyroidism. [Updated 2024]. In: StatPearls [Internet]. Available at https://www.ncbi.nlm.nih.gov/books/NBK441899/
For more information on rare endocrine disorders, visit https://checkrare.com/diseases/endocrine-disorders/.
