Living with Familial hypocalciuric hypercalcemia 1
An inherited form of high blood calcium with low urine calcium, caused by changes in the CASR gene.
Understanding Familial hypocalciuric hypercalcemia 1
This is one type of a condition that affects how the body handles calcium. It is passed down in families and can show up at any time in life. GARD doesn't give more detail about this type yet.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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 CASR 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 changes in the CASR gene. It is autosomal dominant, which means one changed copy of the gene is enough to cause the condition.
Also known as: casr familial hypocalciuric hypercalcemia; familial benign hypercalcemia 1; familial hypocalciuric hypercalcemia caused by mutation in casr; familial hypocalciuric hypercalcemia type 1; familial hypocalciuric hypercalcemia type i; familial hypocalciuric hypercalcemia, type i
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 1.
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