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.

 

 

 

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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Herpes Simplex Virus I (HSV)-IgG Test Herpes Simplex Virus I (HSV)-IgG is used to detect the presence of the herpes virus so that the…
6 arguments in favour of glucosamine and where can you find it Studies have shown that glucosamine works by preventing the breakdown of cartilage of the joints. This is usually…
Quinine: How gin and tonic came to be known as a potent health elixir The discovery of quinine-containing tree bark is sometimes considered the most serendipitous medical discovery of the 17th century.
anti ds dna test
Anti Ds-DNA antibody Test The  Anti Ds-DNA antibody test is used to diagnose the disease called lupus or more aptly the SLE(Systematic…
piles
Best treatment for piles in Bangalore All you need to know about piles and piles treatment in Bangalore - the types of treatment available,…
cystatin C
Cystatin C Test Cystatin C is a specific single-chain protein that is found in body fluids and is a biomarker for…
Echocardiogram
Echocardiography – ECHO Echocardiography (commonly known as ECHO) is an imaging modality (similar to ultrasonography) used to visualize the interior of…
hidden benefits walking
9 benefits of walking we bet you didn’t know! Did you know walking can be the miracle pill for eternal youth? Everyone knows walking is good for…
biopsy procedure
Biopsy Biopsy is a procedure of studying a live tissue sample collected from a specific organ for diagnosing a…
gallbladder diet tomato
Gallbladder surgery :Tips on post-operative care and diet What to eat post a gallbladder surgery? What are the key things to avoid if you had a…
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…
angiography
Angiography Angiography is a diagnostic tool used to determine the narrowing or blockage in the arteries and veins supplying…
ketoacidosis diabetes
HB1Ac Test HB1Ac test is an important blood test that is used to measure the levels of glycated hemoglobin in…
Gua sha: Scraping away layers of pain with this ancient healing tool Gua sha is an ancient oriental healing method which focuses on scraping the body with specific tools to…
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…
alcohol toxic
7 startling facts that will make you quit alcohol today Does drinking really make you friendly and happy? How many calories does a can of cold beer add…
eating disorder anorexia
Eating Disorders: Lifestyle choice or a psychological condition? Is eating disorder just a harmless bad habit? Or does it represent grim psychological disorders? Do you want…
Hepatitis A virus infected liver
Hepatitis A Virus (HAV) Total Blood test to look for IgM antibodies to know if you are infected with Hepatitis A virus (HAV),…
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…
social media adddiction
Your health in the age of Social Media: Why is digital detox a necessity? Did you know that more than 400 million people are dangerously addicted to social media? Are you one…
labiaplasty
Labiaplasty Labiaplasty is a surgical procedure to modify the labia minora and the labia majora. Learn about who can…
amylase test
Amylase Test Amylase test is done by checking the level of this protein in the blood sample and also in…
woman with abdominal pain holding ovulation calendar
Ovulation – facts to know about ovulation Learn how and when ovulation occurs, demystify common misconceptions, identify symptoms, methods of detection and right period for…
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…
Diabetes blood test
Diabetic Profile The diabetic profile is a set of tests used for testing and monitoring the various kinds of Diabetes…
anoscopy
Anoscopy Anoscopy is an invasive diagnostic procedure where a small device known as anoscope will be inserted in the…
Pescatarian Diet 101: What are the inherent health advantages of this diet? People opt to become a pescatarian in order to enrich their bodies with the essential health benefits that…
kefir bottle
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…
Oil of Oregano: The one-stop essential oil you’ve been looking for Are you plagued by a weak immune system? High body inflammation accompanied by pain and infections? Why not…
Ear pain model
Easy and safe tips for ear wax removal you can do at home Cerumen impaction generally occurs when an external object like cotton swabs are used to remove the ear wax.…
Infertility man
Infertility profile (men) The group of tests that for a part of the infertility profile testing for men includes a range…
Period sanitary napkin-menstruaion-blood-colors
Period blood – what it says about your health Your period blood color and consistency indicate what is happening in your body. Is your blood bright red…
CERULOPLASMIN- triple marker
Triple Marker Test A triple marker test is an important prenatal test that is performed to detect the presence of chromosomal…
Bloodtestalbumin
Albumin Test Albumin test or blood serum test is a liver function test that measures the amount of the protein…
Hibiscus: Nourish your beauty and health with these vibrant blooms Hibiscus is a trumpet shaped flower found abundantly in tropical countries. It has been historically used for its…
Coffee Enema: Turn your favorite morning beverage into a powerful colon cleanser The wonders of coffee are not just limited to waking you up every morning. You can now use…
Top reasons why you need to pay attention to your vitamin B6 intake Vitamin B6- An essential water-soluble vitamin. Its deficiency leads to physical changes such as sores & glossy tongue…
C-Reactive Protein Test A CRP or c-reactive protein blood test is an important diagnostic tool used to determine the risk of…
chloride test
Chloride Test A chloride test of the blood checks the level of chloride in body, an important factor governing the…
sodium chloride
Halotherapy: How inhaling salt can work wonders for your body Halotherapy is quickly gaining popularity amongst those with respiratory diseases. It has shown promise in its treatment.
myelogram
Myelography Myelography is an important diagnostic tool that is used to investigate and identify abnormalities in the spine and…
Experts reveal the safest ways to perform an enema at home The idea of pushing some up your rectal area might make you queasy but an enema could actually…
complement c4 test
Complement 4 (C4) Test The Complement 4 or C4 test measures the level of the protein in the bloodstream, and is primarily…
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…
cystoscopy
Cystoscopy Cystoscopy is a procedure to check the health of the urethra and the bladder. The procedure is also…
Barium-enema
Barium Enema Barium enema is also known as colon x-ray. Here, the patient is asked to consume small amount of…
Psyllium Husk: More than just an effective natural laxative Psyllium husk, or isabgol, is a popular natural laxative . But did you in addition to regulating bowels,…
Miracle extract from the root of maca: 10 ways it can help you! Maca root has been used for years in herbal medicine. Today scientific research is unearthing fresh evidence in…
PROGESTERONE_test
Progesterone test The progesterone test is a blood test used to determine the level of hormone progesterone in the blood…
Spinach: The ultimate way to boost health with this green superfood! Spinach is a green superfood that ranks high in both taste and nutrition. Read more to discover how…
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…
Ca 19.9 test
CA19.9 Test CA 19.9 is a cancer antigen that exists on the surface of cancer-causing cells. The levels of CA…
kshar sutra
Kshar sutra treatment for piles, fissures and fistula Read to know the benefits and side effects of kshar sutra to treat anal piles, fissures, and fistula…
deep vein thrombosis
Deep vein thrombosis Deep vein thrombosis or DVT occurs when blood clots form in the deep veins of the body, mainly…
Keto diet healthy
Keto Diet: Did you know you could eat fats to burn fats? Keto diet - A wonder diet that lets you eat fats and lose weight too! Read on to…
Thyroid disorders
Thyroid Profile Thyroid profile is a panel of blood tests performed to check if an individual is suffering from any…
creatinine
Creatinine Test The level of creatinine in the blood is a significant indicator of the health of your kidneys. This…
Low fat diets
A complete list of low-fat diets and how to follow them Low-fat diets help you lose weight in a healthy way, but it works only with regular exercise and…

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