Living with Familial hypocalciuric hypercalcemia 2
A rare inherited condition that affects how the body controls calcium, with high blood calcium and little calcium in urine.
Understanding Familial hypocalciuric hypercalcemia 2
People with this condition have high calcium levels in the blood but pass very little calcium into the urine. It runs in families.
Signs & symptoms
GARD lists these among the less common findings, and we don't have enough information about how often they occur:
- Kidney stones
- Sores in the lining of the digestive tract
- Calcium deposits in the joints
- Multiple fatty lumps
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 GNA11 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
A change in the GNA11 gene on chromosome 19 causes it. It is autosomal dominant, which means one changed copy of the gene is enough to cause the condition.
Also known as: familial benign hypercalcemia, type ii; familial hypocalciuric hypercalcemia type 2; fhh type 2; hhc2; hpocalciuric hypercalcemia, type ii; hypocalciuric hypercalcemia type ii
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 2.
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