Living with Paget disease of bone 3
An inherited form of Paget disease of bone that can make bones enlarged, weak, painful, or misshapen.
Understanding Paget disease of bone 3
People with this condition have abnormal bone remodeling, which is the normal process of breaking down and rebuilding bone. This can lead to enlarged, weakened, painful, or deformed bones. It may run in families. It can raise the chance of problems such as fractures, hearing loss, and, rarely, certain bone tumors.
Signs & symptoms
GARD lists these features, though it doesn't have enough information on how common they are:
- Bone pain
- Breakdown of bone
- Hearing loss
- Bone cell cancer (rare)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Bone Health & Osteoporosis Foundation and Cure VCP Disease, Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Bone Health & Osteoporosis Foundation, Cure VCP Disease, Inc.
- 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 Bone Health & Osteoporosis Foundation and other patient organizations
- 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 SQSTM1 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: paget disease of bone type 3
Patient organizations
- Bone Health & Osteoporosis FoundationPaget disease of bone 3 · United States
- Cure VCP Disease, Inc.Paget disease of bone 3 · United States
You are more than your diagnosis
Perspectives from people navigating life with Paget disease of bone 3.
Explore research for Paget disease of bone 3
Explore actively recruiting Paget disease of bone 3 studies with HealthSpark.
Find actively recruiting studies for Paget disease of bone 3 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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