Brittle bone disease (osteogenesis imperfecta)

Overview

OI ranges from mild with a few fractures to severe with many breaks.

Other signs include blue-gray eye whites, hearing loss, and loose joints.

Symptoms

Common signs:

• Frequent broken bones
• Bone loss, or a broken bone from a minor fall

Less common

• Blue eye whites
• Hearing loss

When to get medical care

Causes

Collagen gene.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.
• It can run in families. Tell your doctor if a parent, brother, or sister has it.

Who is more likely to get it

• Family history

Possible complications

• Hearing loss: Common in adults
• Scoliosis: Common

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Gene test:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Gentle handling
• Physical therapy

Prevention

To lower your risk or prevent problems:

• Fall-safe home

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to an orthopedist (bone and joint doctor).
• A physical therapist can help with exercises to rebuild strength and motion.

Living with it

Support groups and helplines

• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Children, pregnancy, and older adults

• Babies: Handle gently and support the whole body.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Treatment lowers fractures.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Brittle bone disease (osteogenesis imperfecta)