Living with Familial expansile osteolysis
A rare inherited bone condition with bone pain, bone changes, and hearing and tooth problems.
Understanding Familial expansile osteolysis
It causes bone pain, bone bending, fractures, early hearing loss, and tooth problems. Growing areas of bone breakdown usually form in the arm and leg bones. The age at which it starts varies from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone pain
- Bone breakdown (osteolysis)
- Bowed long bones
- Fractures with little injury
- Hearing loss (conductive)
- Early tooth loss and fragile teeth
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 and genetic specialists.
- 3Consider genetic testing
Changes in TNFRSF11A 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)
- 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 the TNFRSF11A gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: feo; hereditary expansile polyostotic osteolytic dysplasia; mccabe disease; polyostotic osteolytic dysplasia, hereditary expansile
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 expansile osteolysis.
Explore research for Familial expansile osteolysis
Explore actively recruiting Familial expansile osteolysis studies with HealthSpark.
Find actively recruiting studies for Familial expansile osteolysis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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