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What is Osteogenesis Imperfecta?
Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones that break easily. It is also known as
“brittle bone disease.” A person is born with this disorder and is affected throughout his or her life time.
• In addition to fractures people with OI often have muscle weakness, hearing loss, fatigue, joint laxity, curved
bones, scoliosis, blue sclerae, dentinogenesis imperfecta (brittle teeth), and short stature. Restrictive pulmonary
disease occurs in more severely affected people.
• OI is caused by an error called a mutation on a gene that affects the body’s production of the collagen found in
bones, and other tissues. It is not caused by too little calcium or poor nutrition.
• OI is variable with 8 different types described in medical literature.
lifetime.
The condition, or types of it, has had various other names over the years and in different nations. Among some of the
most common alternatives are Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease.
Most people with OI receive it from a parent but it can be an individual (de novo or "sporadic") mutation.
Collagen is of normal quality but is produced in insufficient quantities:
• Bones fracture easily
• Slight spinal curvature
• Loose joints
• Poor muscle tone
• Discoloration of the sclera (whites of the eyes), usually giving them a blue-gray color. The blue-gray color of the
sclera is due to the underlying choroidal veins which show through. This is due to the sclera being thinner than
normal because of the defective Type I collagen not forming correctly.
• Early loss of hearing in some children
• Slight protrusion of the eyes
Type II
Collagen is not of a sufficient quality or quantity
• Most cases die within the first year of life due to respiratory failure or intracerebral hemorrhage
• Severe respiratory problems due to underdeveloped lungs
• Severe bone deformity and small stature
Type III
Collagen improperly formed. Enough collagen is made but it is defective
• Bones fracture easily, sometimes even before birth
• Bone deformity, often severe
• Respiratory problems possible
• Short stature, spinal curvature and sometimes barrel-shaped rib cage
• Loose joints
• Poor muscle tone in arms and legs
• Discoloration of the sclera (the 'whites' of the eyes), often turning blue during severe -break.
• Early loss of hearing possible
Type III is distinguished among the other classifications as being the "Progressive Deforming" type, wherein a neonate
presents with mild symptoms at birth and develops the aforementioned symptoms throughout life. Lifespan may be
normal, albeit with severe physical handicapping.
Type IV
Collagen quantity is sufficient but is not of a high enough quality
• Bones fracture easily, especially before puberty
• Short stature, spinal curvature and barrel-shaped rib cage
• Bone deformity is mild to moderate
• Early loss of hearing
Type V
Same clinical features as Type IV. Distinguished histologically by "mesh-like" bone appearance. Further characterized
by the "V Triad" consisting of a) radio-opaque band adjacent to growth plates, b) hypertrophic calluses at fracture sites,
and c) calcification of the radio-ulnar interosseous membrane.
OI Type V leads to calcification of the membrane between the two forearm bones, making it difficult to turn the wrist.
Another symptom is abnormally large amounts of repair tissue (hyperplasic callus) at the site of fractures. At the
present time, the cause for Type V is unknown, though doctors have determined that it is inherited.
Type VI
Same clinical features as Type IV. Distinguished histologically by "fish-scale" bone appearance.
Type VII
• In 2005 a recessive form called "Type VII" was discovered. Thus far it seems to be limited to a First Nations
people in Quebec
Mutations in the gene CRTAP causes this type.
Type VIII
OI caused by mutation in the gene LEPRE1 is classified as type VIII.
Symptoms
All people with OI have weak bones, which makes them susceptible to fractures. Persons with OI are usually below
average height (short stature). However, the severity of the disease varies greatly.
The classic symptoms include:
• Blue tint to the whites of their eyes (blue sclera)
• Multiple bone fractures
• Early hearing loss (deafness)
Because type I collagen is also found in ligaments, persons with OI often have loose joints (hypermobility) and flat feet.
Some types of OI also lead to the development of poor teeth.
Symptoms of more severe forms of OI may include:
• Bowed legs and arms
• Kuphosis
• Scoliosis (S-curve spine)
Causes & Risk Factors
Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in
the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can
affect this gene. The severity of OI depends on the specific gene defect.
OI is an autosomal dominant disease. That means if you have one copy of the gene, you will have the disease. Most
cases of OI are inherited from a parent, although some cases are the result of new genetic mutations.
A person with OI has a 50% chance of passing on the gene and the disease to their children.
Treatments
There is not yet a cure for this disease. However, specific therapies can reduce the pain and complications associated
with OI.
Bisphosphonates are drugs that have been used to treat osteoporosis. They have proven to be very valuable in the
treatment of OI symptoms, particularly in children. These drugs can increase the strength and density of bone in
persons with OI. They have been shown to greatly reduce bone pain and fracture rate (especially in the bones of the
spine).
Low impact exercises such as swimming keep muscles strong and help maintain strong bones. Such exercise can be
very beneficial for persons with OI and should be encouraged.
In more severe cases, surgery to place metal rods into the long bones of the legs may be considered to strength the
bone and reduce the risk of fracture. Bracing can also be helpful for some people.
Reconstructive surgery may be needed to correct any deformities. Such treatment is important because deformities
(such as bowed legs or a spinal problem) can significantly affect a person's ability to move or walk.
Regardless of treatment, fractures will occur. Most fractures heal quickly. Time in a cast should be limited since bone
loss (disuse osteoporosis) may occur when you do not use a part of your body for a period of time.
Many children with OI develop body image problems as they enter their teenage years. A social worker or psychologist
can help them adapt to life with OI.
Doctors who see children and adults with OI include primary care physicians, orthopedists, endocrinologists,
geneticists and physiatrists (rehabilitation specialists). Other specialists such as a neurologist may be needed.
• Treatments focuses on minimizing fractures, maximizing mobility, maximizing independent function and general
health
• Treatments include
compensate for weakness or short stature.
Alternative Medicine
There is a significant progress using alternative medicine in this area.
If you want a referral of an expert alternative medicine practitioner in your
local area, please use our free referral service by calling our toll-free at
1-888-919-1188, or e-mail us to wei@weilab.com, or click the button
at the right to have us contact you.
Information collected from wikipedia.com, oif.org and health.yahoo.net
Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones that break easily. It is also known as
“brittle bone disease.” A person is born with this disorder and is affected throughout his or her life time.
• In addition to fractures people with OI often have muscle weakness, hearing loss, fatigue, joint laxity, curved
bones, scoliosis, blue sclerae, dentinogenesis imperfecta (brittle teeth), and short stature. Restrictive pulmonary
disease occurs in more severely affected people.
• OI is caused by an error called a mutation on a gene that affects the body’s production of the collagen found in
bones, and other tissues. It is not caused by too little calcium or poor nutrition.
• OI is variable with 8 different types described in medical literature.
- o The types range in severity from a lethal form to a milder form with few visible symptoms.
o The specific medical problems a person will encounter will depend on the degree of severity.
lifetime.
- o The range is so wide because mild OI often goes undiagnosed.
The condition, or types of it, has had various other names over the years and in different nations. Among some of the
most common alternatives are Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease.
Most people with OI receive it from a parent but it can be an individual (de novo or "sporadic") mutation.
Collagen is of normal quality but is produced in insufficient quantities:
• Bones fracture easily
• Slight spinal curvature
• Loose joints
• Poor muscle tone
• Discoloration of the sclera (whites of the eyes), usually giving them a blue-gray color. The blue-gray color of the
sclera is due to the underlying choroidal veins which show through. This is due to the sclera being thinner than
normal because of the defective Type I collagen not forming correctly.
• Early loss of hearing in some children
• Slight protrusion of the eyes
Type II
Collagen is not of a sufficient quality or quantity
• Most cases die within the first year of life due to respiratory failure or intracerebral hemorrhage
• Severe respiratory problems due to underdeveloped lungs
• Severe bone deformity and small stature
Type III
Collagen improperly formed. Enough collagen is made but it is defective
• Bones fracture easily, sometimes even before birth
• Bone deformity, often severe
• Respiratory problems possible
• Short stature, spinal curvature and sometimes barrel-shaped rib cage
• Loose joints
• Poor muscle tone in arms and legs
• Discoloration of the sclera (the 'whites' of the eyes), often turning blue during severe -break.
• Early loss of hearing possible
Type III is distinguished among the other classifications as being the "Progressive Deforming" type, wherein a neonate
presents with mild symptoms at birth and develops the aforementioned symptoms throughout life. Lifespan may be
normal, albeit with severe physical handicapping.
Type IV
Collagen quantity is sufficient but is not of a high enough quality
• Bones fracture easily, especially before puberty
• Short stature, spinal curvature and barrel-shaped rib cage
• Bone deformity is mild to moderate
• Early loss of hearing
Type V
Same clinical features as Type IV. Distinguished histologically by "mesh-like" bone appearance. Further characterized
by the "V Triad" consisting of a) radio-opaque band adjacent to growth plates, b) hypertrophic calluses at fracture sites,
and c) calcification of the radio-ulnar interosseous membrane.
OI Type V leads to calcification of the membrane between the two forearm bones, making it difficult to turn the wrist.
Another symptom is abnormally large amounts of repair tissue (hyperplasic callus) at the site of fractures. At the
present time, the cause for Type V is unknown, though doctors have determined that it is inherited.
Type VI
Same clinical features as Type IV. Distinguished histologically by "fish-scale" bone appearance.
Type VII
• In 2005 a recessive form called "Type VII" was discovered. Thus far it seems to be limited to a First Nations
people in Quebec
Mutations in the gene CRTAP causes this type.
Type VIII
OI caused by mutation in the gene LEPRE1 is classified as type VIII.
Symptoms
All people with OI have weak bones, which makes them susceptible to fractures. Persons with OI are usually below
average height (short stature). However, the severity of the disease varies greatly.
The classic symptoms include:
• Blue tint to the whites of their eyes (blue sclera)
• Multiple bone fractures
• Early hearing loss (deafness)
Because type I collagen is also found in ligaments, persons with OI often have loose joints (hypermobility) and flat feet.
Some types of OI also lead to the development of poor teeth.
Symptoms of more severe forms of OI may include:
• Bowed legs and arms
• Kuphosis
• Scoliosis (S-curve spine)
Causes & Risk Factors
Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in
the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can
affect this gene. The severity of OI depends on the specific gene defect.
OI is an autosomal dominant disease. That means if you have one copy of the gene, you will have the disease. Most
cases of OI are inherited from a parent, although some cases are the result of new genetic mutations.
A person with OI has a 50% chance of passing on the gene and the disease to their children.
Treatments
There is not yet a cure for this disease. However, specific therapies can reduce the pain and complications associated
with OI.
Bisphosphonates are drugs that have been used to treat osteoporosis. They have proven to be very valuable in the
treatment of OI symptoms, particularly in children. These drugs can increase the strength and density of bone in
persons with OI. They have been shown to greatly reduce bone pain and fracture rate (especially in the bones of the
spine).
Low impact exercises such as swimming keep muscles strong and help maintain strong bones. Such exercise can be
very beneficial for persons with OI and should be encouraged.
In more severe cases, surgery to place metal rods into the long bones of the legs may be considered to strength the
bone and reduce the risk of fracture. Bracing can also be helpful for some people.
Reconstructive surgery may be needed to correct any deformities. Such treatment is important because deformities
(such as bowed legs or a spinal problem) can significantly affect a person's ability to move or walk.
Regardless of treatment, fractures will occur. Most fractures heal quickly. Time in a cast should be limited since bone
loss (disuse osteoporosis) may occur when you do not use a part of your body for a period of time.
Many children with OI develop body image problems as they enter their teenage years. A social worker or psychologist
can help them adapt to life with OI.
Doctors who see children and adults with OI include primary care physicians, orthopedists, endocrinologists,
geneticists and physiatrists (rehabilitation specialists). Other specialists such as a neurologist may be needed.
• Treatments focuses on minimizing fractures, maximizing mobility, maximizing independent function and general
health
• Treatments include
- o Physical therapy and safe exercise including swimming
o Casts, splints or wraps for broken bones
o Braces to support legs, ankles, knees and wrists as needed
o Orthopedic surgery, often including implanting rods to support the long bones in arms or legs
o Medications to strengthen bones
compensate for weakness or short stature.
Alternative Medicine
There is a significant progress using alternative medicine in this area.
If you want a referral of an expert alternative medicine practitioner in your
local area, please use our free referral service by calling our toll-free at
1-888-919-1188, or e-mail us to wei@weilab.com, or click the button
at the right to have us contact you.
Information collected from wikipedia.com, oif.org and health.yahoo.net
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