Brittle Bone Disease

A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones

Symptoms of Brittle Bone Disease

The following features are indicative of Brittle Bone Disease:
  • weak muscles
  • brittle teeth
  • a curved spine
  • hearing loss
  • fragile bones
  • short stature
  • discolored teeth
  • bluish discoloration of the whites of the eyes
It is possible that Brittle Bone Disease shows no physical symptoms and still is present in a patient.

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Common Causes of Brittle Bone Disease

The following are the most common causes of Brittle Bone Disease:
  • genetic defect
  • inherited factor
  • family history

Risk Factors for Brittle Bone Disease

The following factors may increase the likelihood of Brittle Bone Disease:
  • family history
  • abnormal absence of menstrual periods
  • thinness
  • being postmenopausal and particularly having had early menopause
  • low calcium intake
  • lack of physical activity
  • smoking
  • excessive alcohol intake

Prevention of Brittle Bone Disease

No, it is not possible to prevent Brittle Bone Disease.
  • genetic mutation in one of two genes COL1A1 or COL1A2 (collagen type I alpha 1 or 2 chain)

Occurrence of Brittle Bone Disease

Number of Cases

The following are the number of Brittle Bone Disease cases seen each year worldwide:
  • Rare between 10K - 50K cases

Common Age Group

Brittle Bone Disease can occur at any age.

Common Gender

Brittle Bone Disease can occur in any gender.

Lab Tests and Procedures for Diagnosis of Brittle Bone Disease

The following lab tests and procedures are used to detect Brittle Bone Disease:
  • Physical exam: To measure the length of limbs and examine the eyes and teeth
  • Personal and family medical history: To detect the presence of the genetic mutation
  • X-ray: To diagnose the osteogenesis imperfecta
  • Bone density test: To determine the abnormalities of collagen
  • Bone biopsy: To determine whether abnormalities of collagen are present

Doctor for Diagnosis of Brittle Bone Disease

Patients should visit the following specialists if they have symptoms of Brittle Bone Disease:
  • Medical geneticists
  • Paediatrician

Complications of Brittle Bone Disease if untreated

Yes, Brittle Bone Disease causes complications if it is not treated. Below is the list of complications and problems that may arise if Brittle Bone Disease is left untreated:
  • hearing loss
  • heart failure
  • respiratory problems
  • brainstem problems
  • permanent deformity

Procedures for Treatment of Brittle Bone Disease

The following procedures are used to treat Brittle Bone Disease:
  • Surgery: To correct the bone deformities
  • Bracing: Provides support for weak muscles and keep joints properly aligned

Medicines for Brittle Bone Disease

Below is the list of medicines used for Brittle Bone Disease:

Self-care for Brittle Bone Disease

The following self-care actions or lifestyle changes may help in the treatment or management of Brittle Bone Disease:
  • Nutritional intake: Helps in preventing people with osteogenesis imperfecta
  • Exercise: Prevents bone loss and provide other health benefits
  • Healthy lifestyle: Avoid smoking and alcohol intake

Alternative Medicine for Treatment of Brittle Bone Disease

The following alternate medicine and therapies are known to help in the treatment or management of Brittle Bone Disease:
  • Physiotherapy: Strengthen the muscles and improves motility

Patient Support for Treatment of Brittle Bone Disease

The following actions may help Brittle Bone Disease patients:
  • Genetic counseling: Beneficial for affected individuals and their families

Time for Treatment of Brittle Bone Disease

While time-period of treatment for each patient may vary, below is the typical time-period for Brittle Bone Disease to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Brittle Bone Disease.

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