Osteogenesis Imperfecta

Osteogenesis imperfecta joints

Last Updated December 20th, 2021

Overview of osteogenesis imperfecta

The World Health Organisation (WHO) has estimated that nearly 50% of the world population suffers from some major musculoskeletal disorders. While most of these syndromes arise due to physical, environmental, clinical and dietary factors, many of them may arise simply due to genetic factors. Osteogenesis imperfecta is one such disease that arises from genetic mutations. It mainly affects the bones and joints and may give rise to some additional complications as well. Nearly 1 out of 15,000 people suffer from the disease worldwide.

 

Definition of osteogenesis imperfecta

Osteogenesis imperfecta bone massOsteogenesis imperfecta is a collective name for a group of genetic disorders that damage the bones. It leads to an increased brittleness of bones. The symptoms may range from mild to severe.

Some of the other manifestations are – the appearance of bluish tinge in the white portion of the eyes, short stature, loosening of joints, hearing problems, respiratory ailments and dental problems.

 

What causes osteogenesis imperfecta?

The disease mainly arises due to some problems with the connective tissue, which again results from the deficiency of type I collagen. Research works have shown that the collagen insufficiency is attributed to an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure. Mutations in the COL1A1 and the COL1A2 genes lead to Osteogenesis imperfecta in 90% of the cases. This disease is often inherited in an autosomal dominant pattern or through some genetic mutations.

 

What are the different types of osteogenesis imperfecta?

Osteogenesis imperfecta is classified into eight different types viz- Type I, Type II, Type III, Type IV, Type V, Type VI, Type VII and Type VIII. Type I is the least severe and Type VIII is the most severe. The different types will be discussed in separate sections.

Type I osteogenesis

Type I osteogenesis is usually an autosomal dominant trait and occurs due to mutations in the COL1A1 gene. The collagen, in this case, is of normal quality but is not present in sufficient quantities. The symptoms are usually mild and are as follows-

  • Brittleness of bones
  • Visible spinal curvature
  • Loosening of joints
  • Low muscle tone
  • Bluish-grey discoloration of the sclera (due to the visibility of the underlying choroidal veins, since the sclera is thinner than normal)
  • Premature loss of hearing in some children
  • Bulging or protruded eye-balls

Type I osteogenesis is of two types- IA and IB. They are mainly characterized by the presence or the absence of the dentinogenesis imperfecta, which means opalescent teeth. This is actually present in IB but absent in IA. Life expectancy of these patients is somewhat reduced compared to that of the normal population. This is attributed to the increased risks of fatal bone fractures.

Osteogenesis imperfecta bone fractureType II osteogenesis

In this case, neither the collagen quality nor the quantity is adequate. The following features are observed-

  • Very short stature
  • Bone deformity
  • Respiratory problems (due to underdeveloped lungs)
  • Intracerebral hemorrhage
  • Respiratory problems

Most of the patients die in the first year of their lives due to respiratory failure or hemorrhage. Type II has three subtypes- IIA, IIB, and IIC.

  • Type IIA: Broad and short long bones, broad and beaded ribs
  • Type IIB: Broad and short long bones, thin ribs (with little or no beading)
  • Type IIC: Thin and longer long bones, thin and beaded ribs

Type III osteogenesis

In this disease, sufficient collagen is produced, but those are defective and cannot be utilised. This type is actually a “progressive deforming” type where an infant has very mild symptoms at birth and develops additional symptoms throughout its life. Some of these children may become physically handicapped at some later point of time. The common features are as follows-

  • Brittleness of bones
  • Severe bone deformity
  • Respiratory problems
  • Slight spinal curvature
  • Short stature
  • Barrel-shaped rib cage
  • Triangular face
  • Loosened joints
  • Poor muscle tone in arms and legs
  • Greyish-blue discolouration of sclera
  • Premature loss of hearing

Type IV osteogenesis

Here, the collagen quantity is sufficient, although the quality is not very good. The main features are as follows-

  • Brittleness of bones, especially before the onset of puberty
  • Spinal curvature and short stature
  • Barrel-shaped rib cage
  • Mild to moderate bone deformity
  • Premature loss of hearing

Type IV osteogenesis has two subtypes-

  • Type IVA: Absence of dentinogenesis imperfecta
  • Type IVB: Presence of dentinogenesis imperfecta

Type V osteogenesis

It is caused by mutations in the IFITM5 gene. The features are almost similar to that of Type IV osteogenesis. It is characterized by mesh-like bony appearance. Two unique characteristics of this type are-

  • Radio-opaque band adjacent to the growth plates
  • Hypertrophic calluses at fracture sites
  • Calcification of the radio-ulnar interosseous membrane

All the above features form the “V triad”.

Type VI osteogenesis

It also has almost similar features as that of Type IV osteogenesis. It is characterized by “fish-scale bone” appearance. Recent research has proved that Type VI osteogenesis results from the “loss of function” inducing mutation in the SERPINF1 gene.

Type VII osteogenesis

This is a recessive form of osteogenesis. It is caused by mutations in the CRTAP gene.

Type VIII osteogenesis

It results from the mutations in the gene LEPRE1. 

 

Diagnosis and  treatment

Osteogenesis imperfecta jointsThere is no specific diagnostic test for osteogenesis. X-rays can detect the bone deformities at any stage. Doctors often recommend a skin biopsy to determine the quantity as well as the quality (structure) of Type I collagen. A DNA test conducted thereafter can confirm the test.

A detailed differential diagnosis should be conducted to rule out other skeletal diseases like osteomalacia and rickets.

The treatment mainly aims at providing symptomatic relief and preventing the condition from worsening.

Some of the treatment options are:

Medications

  • Bone-strengthening medicines- Bisphosphonates (such as pamidronate, alendronate, and zoledronate) are usually prescribed to impede bone loss and to reduce the frequency and severity of fractures. They help in maintaining the bone mass. These are usually administered intravenously.
  • Vitamin D supplements are also prescribed along with calcium as per the requirement.
  • Pain reliever medicine- The pain caused by weak and fractured bones can be relieved by the use of pain reliever medicines.

Physical and occupational therapy– In case of pediatric patients, land and aquatic based programs can help to address joint laxity, in improving function, and to improve the condition of the cardiopulmonary function. It also helps in developing fine motor skills. In case of adults, it helps in maintaining mobility and to adjust to the physical changes to injury or aging.

Fractures care and repair – Casts, braces, and splints can be used to support the fractured bones and augment healing.

Surgery- In case of pediatric patients, surgical intervention is required for the correction of the bowing of long bones, to support and prevent the fracture of long bones (intramedullary rodding surgery) and to stabilize the spine. In adults, it is performed to fix fractures, and to support the curved bones and the spine.

Mobility aids– Patients can use canes, crutches, walkers or wheelchairs to move around safely.

Dental Care– Patients may require specialized dental care as their teeth are brittle and may crack or chip off easily.

 

 

Facts

  • Osteogenesis Imperfecta is the most commonly occurring inherited connective tissue disorder that principally affects the bones.
  • It is estimated that around 25,000 to 50,000 individuals in the United States are affected by osteogenesis imperfecta.

Facts

  • There are 4 types of osteogenesis imperfecta. The type II has the most severe clinical manifestations and usually proves fatal soon after birth.
  • Osteogenesis imperfecta is a genetic condition that is inherited as an autosomal dominant condition.

Facts

  • Arms are the most commonly broken bones in adults whereas the collar bones are the most commonly broken in case of children.
  • The only bone in the body which is not connected to any other bone is the hyoid bone (at the base of the tongue).

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Dos and Don'ts

Dos
  • Take Supplements for vitamin D and calcium after consulting your doctor. This will help in improving the bone strength.
  • Be cautious while moving around. Take the help of any the mobility aids in order to prevent injuries.
  • Go for regular checkups in order to know about any associated condition such as hearing loss, cardiac issues, vision difficulties, respiratory problems etc.
Don'ts
  • Neglect good oral hygiene. Affected individuals are highly prone to dental problems owing to their brittle teeth.
  • Neglect physical activity. Consult your physical therapist to know about the exercises helpful for you. It will help in building the strength of muscles and bones.

 

 

 

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Kefir: Top reasons why this probiotic drink should be consumed by you Yet another remarkable fermented food, kefir is a much healthier version of yogurt. These chewy white grains can…
How seitan proved to be a blessing in disguise for vegans worldwide Can only meat-eaters enjoy delicious juicy steaks and burgers? With seitan, the best meat substitute available today,even vegans…
Is bronchitis contagious? And how to prevent this infection? It is acute bronchitis that is contagious which means you can contract it from another person or you…
Barium-enema
Barium Enema Barium enema is also known as colon x-ray. Here, the patient is asked to consume small amount of…
GGt test
GGT – Gamma-Glutamyl Transferase Test GGT or gammaglutamyl transferase test is a liver function test that is used to detect the extent of…
Tight phimosis ring
Phimosis Read to know everything about phimosis, types, symptoms, treatment, risks and prognosis for patients with this condition.
occupational hazards types
Occupational Hazards: How to vouch for your health at your workplace Occupational hazards affect millions worldwide. Chemical spills, faulty wires, deadly pathogen, and work-stress can happen anytime. Follow these…
glutamine workout
Glutamine: Why is this the right choice for muscle-gain supplement? Glutamine can help you gain muscles and build higher immunity. Read more to find out how you can…
Cayenne: The remarkable benefits of these red hot chili peppers These may make you rush for a glass of water, but cayenne pepper is actually a healthy additive…
Love tea, hate tannins? Rooibos tea is just what you need The market is brimming with a multitude of herbal teas. But what makes rooibos tea (or red bush)…
BRAT Diet: What is the right way to follow this diarrhea-relieving diet? BRAT diet, a simple diet consisting of just bananas, rice, applesauce, and toast, can help you combat the…
What is the right way to take a pregnancy test? A pregnancy test is undertaken to determine if you have conceived. A home pregnancy test is the most…
Gatorade: Top things you need to know about this staple energy drink Gatorade is a popular (in fact the most popular) energy drink worldwide. But this power-packed drinks comes with…
Vagus nerve: 7 health benefits of stimulating the “gut-brain” connection As a matter of fact, there are two vagus nerves namely the left and the right but is…
liver cleanse detox
14 go-to foods that are best for a complete natural liver detox Liver cleanse can be achieved by just choosing or avoiding certain types of food. Liver itself is a detoxifying…
Vitamin-D-blood-test
25-Hydroxy Vitamin D test 25-hydroxy Vitamin D test is a blood test used to measure the level of vitamin D in the…
blood elements analysis
Blood Element Analysis Test A blood element analysis is a blood test performed to measure the level of toxic elements such as…
malarial antigen test
Malaria Antigen Test A malaria antigen test is a rapid diagnostic test (RDT) that can detect malarial antigens (proteins) in your…
Unbelievable health benefits of gooseberries (and a few tasty recipes) Gooseberries are antioxidant-rich tasty fruits that can be easily added in daily diet to improve overall health and…
piles fissure fistula
Allopathy vs homeopathy vs ayurveda treatment for piles, fissures, and fistula Read to know the best form of treatment among allopathy, homeopathy,or ayurveda for piles, fissures, and fistula
hidden causes obesity
8 hidden causes of obesity you probably didn’t know! Did you know that around 2 billion people worldwide are either overweight or obese? Are you too a…
liver detox facts
7 liver detox facts and why ignoring these could kill you! Are you taking care of this organ that handles over 500 different vital functions in your body? Your…
L-theanine attention
L-Theanine: Better sleep, higher focus, and many other benefits Did you know that L-theanine found in green tea can make you sleep better and be focused at…
Dragon Fruit – Blessing from Nature’s Basket Dragon fruit is packed with nutrients but low on calories. It is the dream food that can help…
Valerian Root: The best way to achieve tranquil sleep every night Valerian root is probably one of the oldest and safest way to cure your insomnia. Find out how…
Did you know drinking alkaline water could be the healthier choice for you? Ever wondered how safe is your drinking water in terms of pH? Recent studies have revealed that Alkaline…
Kava: Is it the healthy substitute for alcohol you have been waiting for? Native to the beautiful South Pacific islands, Kava is a famous beverage rooted in the local culture. It…
Goji berry: A traditional Chinese berry that packs the best of antioxidants Goji berry is an ancient berry that is considered to be power-packed with nutrients and antioxidants. Which means…
Sciatica pain relief: Get rid of the pain with these easy daily tips Researchers have claimed that not only heat but icing the area too helps relieve sciatica pain. Find out…
The Cabbage Soup Diet: The healthiest way to instant weight loss Cabbage soup diet rapid weight loss diet for those who want to shed those extra pounds in less…
shakeology woman
Meal replacement or protein drink? Learn all about Shakeology and its claims Shakeology from Beachbody claims to be the most suitable shake that can aid in weight loss, regulate blood…
C-Reactive Protein Test A CRP or c-reactive protein blood test is an important diagnostic tool used to determine the risk of…
free psa test
Free PSA Test The free PSA test is used to detect the level or percentage of free PSA in the body…
Thyroid disorders
Thyroid Profile Thyroid profile is a panel of blood tests performed to check if an individual is suffering from any…
DHEA wrinkles
DHEA: Now get unbelievable age defiance with this wonder hormone! DHEA is known popularly as the age-defying hormone. This supplement is widely used to slow down aging and…
Surgery or home-remedy; what is the right way to treat a burn The treatment of a burn injury depends on its severity. You can save a life by offering the…