Living with Familial isolated hyperparathyroidism
An inherited condition with overactive parathyroid glands in the neck, leading to high blood calcium.
Understanding Familial isolated hyperparathyroidism
Too much parathyroid hormone raises blood calcium (hypercalcemia). Many people have a noncancerous tumor (adenoma) in one or more glands, and rarely it becomes cancerous. It may not be found until adulthood, often through a routine blood test.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Overactive parathyroid glands
- Parathyroid adenoma (noncancerous tumor)
- Thinning bones (osteoporosis, osteopenia)
- Calcium deposits in the joints
- Calcium deposits in the kidneys
- Kidney stones, nausea, weakness, tiredness
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 and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 rare disease patient organizations for support
- 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 genes cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: fihp; fihpt; fihpt - familial isolated hyperparathyroidism
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial isolated hyperparathyroidism.
Explore research for Familial isolated hyperparathyroidism
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