Living with Familial hypocalciuric hypercalcemia 3
An inherited condition with high blood calcium and low urine calcium, usually with few or no symptoms.
Understanding Familial hypocalciuric hypercalcemia 3
It also causes high parathyroid hormone and low calcium in the urine. Most people have no signs or symptoms, but some do. Some people with type 3 also have high magnesium, lower bone density, behavior problems, or learning disabilities.
Signs & symptoms
Most people have no symptoms. GARD lists these as findings that may occur in some people:
- Weakness and tiredness
- Muscle weakness or pain
- Constipation
- Depression
- Excessive thirst
- Headache
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 bone and joint specialists, genetic specialists, hormone specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in AP2S1 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Lung and breathing specialists (pulmonologists)
- 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
It is caused by a genetic change in the AP2S1 gene. It is autosomal dominant, which means one changed copy of the gene is enough to cause the condition.
Also known as: ap2s1 familial hypocalciuric hypercalcemia; familial benign hypercalcemia, type iii; familial hypocalciuric hypercalcemia caused by mutation in ap2s1; familial hypocalciuric hypercalcemia type 3; fhh type 3; hhc3
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 hypocalciuric hypercalcemia 3.
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