Living with Hyperparathyroidism 2 with jaw tumors
A genetic condition with overactive parathyroid glands, which can cause high calcium, kidney stones, and sometimes jaw and other tumors.
Understanding Hyperparathyroidism 2 with jaw tumors
The four parathyroid glands in the neck control the body's use of calcium. When overactive, calcium balance is disrupted, which can cause kidney stones, thin bones, nausea, high blood pressure, weakness, and fatigue. About 95 percent of people develop it. Usually it is a noncancerous tumor in one gland. About 15 percent develop parathyroid cancer. Jaw fibromas affect an estimated 11 to 40 percent. Uterine and kidney changes can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Overactive parathyroid glands
- Kidney stones
- Thin bones (osteoporosis)
- Extreme thirst
- Fatigue
- Jaw fibroma (noncancerous tumor)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, genetic specialists, hormone specialists and kidney specialists.
- 3Consider genetic testing
Changes in CDC73 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the CDC73 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: familial cystic parathyroid adenomatosis; familial primary hyperparathyroidism with multiple ossifying jaw fibromas; hpt-jt; hyperparathyroidism 2; hyperparathyroidism type 2; hyperparathyroidism-2
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
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Perspectives from people navigating life with Hyperparathyroidism 2 with jaw tumors.
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