Brittle Bone Disease

Symtoms , Types and Treatment of Brittle Bone Disease

What Is Brittle Bone Disease??

Brittle Bone Disease Also Known as Osteogenesis Imperfecta is a type of lifelong Genetic Disorder that mainly affects the bones of the body. In this bones use to break very easily that too without any sort of injury or damage. It affects ranges from Mild to Severe. In more than 90% of the cases,mutation is the cause for brittle bone diseases.

Doctor image
Dr Anil Kumar
Orthopaedic Surgeon

To know more about it Medishala interviewed Dr Anil Kumar one of Top Orthopaedic Surgeon in Patna , currently practicing at Patna Ortho Clinic situated MIG-126,Doctors Colony, Kankerbagh about Brittle Bone Disease and here is what he has to say:

“As it is a genetic problem so it is often inherited from a person’s parents either it occurs via a new mutation or by autosomal dominant manner”. It affects both the sexes and all races equally. Till yet there is no perfect cure for Brittle Bone Problem but it can be treated in some way that too when the symptoms are ranging in a mild region. Its symptoms generally start showing up from childhood itself. It also affects the teeth and sometimes can lead to dental cracks and cavities.

Brittle Bone

What Are Causes Of Brittle Bone Disease??

Brittle Bone Disease is a genetic disorder and it passes down through families but, there are also some visible cases in which gene doesn’t inherit from either of the parents but due to a mutation in the gene, it develops by its own. There is a gene that is supposed to make a substance called Collagen, where collagen is a protein which helps in keeping the bone strong and giving them the strength to bear the pressure. When the formation of this Collagen protein is decreased in the body then the bone in the body becomes weak and can break very easily.

X ray of Brittle Bone
Deformed Brittle Bone

What Are Different Types Of Brittle Bone Disease??

In our body, there are total of 4 genes that are responsible for the formation of collagen protein in the body. Someone who has Brittle Bone Disease all these 4 genes get affected or sometimes only a few of them get affected. A total of 8 types of Brittle Bone Disease can occur due to the defective genes but mostly only 4 of them are commonly found and rest 4 comes under a very rare case of occurrence. They are labeled from type 1 OI to type 8 OI. Out here we’ll talk only about most common 4 types of OI (Osteogenesis Imperfecta).

Type 1 OI:-

This type is one of the most common and mildest type of brittle bone disease found in the body. In this type, the production of collagen protein occurs but not in an insufficient amount. Resulting in bone fracture due to mild trauma. It can also affect the dental or teeth health of the person like dental crack or cavities etc. It affects the COL1A1 gene.

Type 2 OI:-

Form Type 2 OI the Brittle Bone Problems starts to come under Severe region of effect. In this type, the production of the collagen protein is either of very poor quality or the production is almost null. In this newborn babies took birth with deformed bones, narrowed chest, broken or misshapen ribs, or underdeveloped lungs. Babies suffering from type 2 OI can even die in the womb or just after birth. It affects the COL1A1 and COL1A2 gene both.

Type 3 OI:-

This type comes under the severe type of Brittle Bone Disease. In this Type 3 OI, the production of collagen happens but the quality is very poor, resulting in breaking of the bones very easily. Bone deformity and broken bones of the baby before birth is most common in this type. It affects both COL1A1 and COL1A2 gene.

Type 4 OI:-

This type is also known as the most variable form of Brittle Bone Disease as its symptoms can range from mild to severe. In this type, the production of collagen protein use to happen in enough quantity but the quality is very poor resulting in bowed legs of the newborn babies. It affects both COL1A1 and COL1A2 gene.

Type 5 OI, 6 OI, 7 OI, and 8 OI:-

In these types, the affected genes are IFITM5, SERPINF1, CRTAP, LEPRE1 respectively. These are rare Brittle Bone Diseases

Signs of Brittle Bone diseases

What Are The Symptoms Of Different Types of Brittle Bones?

Type 1:-

  • Broken bones or fracture very easily.
  • Spinal Cord becomes slightly curved.
  • Poor muscle tone.
  • Discoloration of the whites of the eye (sclera) usually giving blue-gray color.
  • Hearing loss.

Type 2:-

  • In most cases the death of the baby in the first year of birth.
  • Respiratory organs failure.
  • Intracerebral hemorrhage.
  • Bone deformity.

Type 3:-

  • Broken or fractured bone even before birth.
  • Severe level of bone deformity.
  • Respiratory problems.
  • Spinal cord curvature.
  • Barrel-shaped rib cage.
  • Triangular face.
  • Poor muscle tone.
  • Discoloration of whites of the eye (sclera).
  • Hearing loss in early age.

Type 4:-

  • Easily fractures in the bone even before puberty.
  • Short stature, barrel-shaped rib cage.
  • Curvature in the spinal cord.
  • Early hearing loss.

What Are The Prevention And Treatment Measures for Brittle Bone ?

Since it is a genetic disease and inherited down from the parents so the cure and treatment of this disease are very limited or say none. We can try some of the techniques to keep our bones healthy and if the condition gets further severe there all still a few methods to get it treated but can be cured totally. The existing approach is to get relief from the symptom in the most possible way. Few of them are:-

  • Prevention of Bone fracture.
  • Physical therapies.
  • Few bone-strengthening drugs.
  • Including food in the diet with rich in Vitamin -D and Calcium.
  • Avoiding alcohol completely.
  • Doing regular exercise is must but only those recommended by the therapist.
  • Avoid smoking and use of tobacco products.
  • Doctors examine in every 6-12 months through X-ray
  • Using physical aids like crutches, powered wheelchair, etc.
X-ray of inserted Rod
Insertion of Rod
  • Checking which type of OI a person is suffering from by DNA testing.
  • By surgery correction of bowing of long bones.
  • insertion of rods through surgery
  • By surgery stabilizing the spine curvature.
  • By surgery replacement of the joints.
  • Fracture repair.
  • By surgery improving the condition of other types of bone deformity.
  • Other treatments for hearing loss, respiratory problems, and others
A boy with Physical Support.
Physical support

It is a major growing concern nowadays so it is better to get aware of this disease in the early childhood phase so that any chance of either improvement or treatment can’t be missed. So in this case, Medishala is present to help you out by providing an online booking appointment system from which you can get your appointment from the doctor in just a matter of time. So book your appointment today on Medishala.


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