Osteogenesis Imperfecta

Osteogenesis Imperfecta is a rare genetic disorder caused by a gene mutation in which bones break easily, often with no particular cause. OI can cause extreme pain and discomfort. There are several types of this disorder ranging in severity. The population affected by this disease ranges by type from one in every sixty thousand to one in every thirty-thousand.

Before starting pharmacological medication preventive measures should be taken. For example, weight-bearing exercise, calcium and vitamin D intake, quit smoking and alcohol. After that start osteoporosis medication if it is primary, but if it is secondary treat the underlying cause first. These drugs do not treat osteoporosis, but decrease further loss of BMD which include Bisphosphonates (Alendronate- Risedronate- Ibandronate- Zoledronic acid), Raloxifene (Selective estrogen receptor modulators), Calcitonin (hormone decreases bone resorption by inhibiting osteoclast activity), Denosumab, Teriparatid(Parathyroid hormone). The first drug used is alendronate because of its high efficacy in preventing fractures and low cost. If the first line drug failed other bisphosnates or denosumab can be used. Ralaxofeine used as third line drug because it has a risk of developing blood clot diseases, yet it decreases the risk of breast cancer . Calcitonin is used for those who are contraindicated to the previous drugs because of its low efficacy. Teriparatid is the only drug that works by increasing BMD, but is the last drug used. It is taken for a maximum 2 years and expensive and contraindicated in those who have history or having a bone cancer. For those patients who complain of sever back pain surgery might be suitable for them as a last solution although the efficacy and safety

“Thirty-five year old Donna Duckworth is learning how to care for her newborn of five weeks, when she bends over the baby’s crib and feels something give in her back. The next day and the following week, the pain becomes unbearable in her back. She is breast-feeding and does not want to take any medication so she lives with the intense and continuing pain. Within a few weeks, she can no longer stand it so she goes to see her physician who orders blood work, does a complete physical and as a result, sends her to see an orthopedist who x-rays and does a bone density study. The diagnosis comes back as osteoporosis and it is found she has fractured three of her lumbar and four of her cervical vertebra.”

2). In addition, this disease causes death, short stature, blindness, and hearing loss. “Seventy percent of children with malignant infantile osteoporosis die by the age of six years, and almost 100 percent do not live to the age of 10 years” (Stocks et al., p. 2). The main cause of death is bone marrow failure, due to non-functioning osteoclasts. Some children will also have delays in muscle coordination, nerve compression, low levels of iron, crossed eyes, tooth decay, abnormal hardening of the bones, and fractures. (“Osteopetrosis,” 2008).

While a cure has not yet been found for Osteogenesis Imperfecta, many treatments have been discovered. Therapy is always a great option because it can help the child strengthen his or her bones and help stretch any sore joints. Doing exercises that are not so demanding on the body, such as swimming, is a great idea as well. “Bisphosphonates are drugs that increase strength and density of bones and reduce pain and fracture rate” (Osteogenesis). Bisphosphonates have been known to be very effective and greatly improve the disease, making the life of one with Osteogenesis Imperfecta much better. Metal rods have also been used to help support the bones. Surgery may also be necessary to repair any deformities to allow the person to be able to function better and with less pain.

Osteoporosis is a disorder of bones that affects bones making them low in bone mass fragile and will lead to bone fracture. Bone fracture will easily occur as this disease cause the matrix inside the bone become weak and brittle.Bones can become so brittle due to activities such as coughing can cause fractures.According to Macgill (2015) the origin of the word osteoporosis explain the condition of ‘osteo’ is for bone and ‘porosis’ means porous that resulting in weakness. At this condition, the bone tissue is mineralized normally, but the production is not enough to preserve the normal skeletal architecture. 80% of women and 20% men of 28 million American are affected with the osteoporosis. Approximately, women with the age of 50 will develop osteoporosis. Thin bones are the cause of 1.5 million fractures a year. As in Malaysia, the statistic shows that osteoporosis related to fractured is the common health problem especially in elderly..

As generally stated in the introduction, osteoporosis is a skeletal disorder that involves the strength and integrity of one’s bones. The WHO defines osteoporosis as, “a systemic skeletal disorder characterized by low-bone mass, deterioration of bone tissue, increased bone fragility, and its susceptibly to recurrent fractures.” 2 The most important factor to take into account when addressing osteoporosis is the mass of bone, also referred to as, bone mineral density (BMD). As bone mass begins to decline, typically in the older population, specifically postmenopausal women, individuals are at an increased risk for fractures.3 As a result of this serious condition, many people are affected by morbidity, mortality, and economic difficulty.1

This patient is most likely presented with osteogenesis imperfecta. This disease is characterized by a group of genetic disorders that mainly affect the bones, in which the patients have their bones break easily resulting either from mild trauma or no apparent cause. Multiple fractures are commonly seen, and in severe cases, can occur even before birth. In milder cases only a few fractures may be seen. There are several types of OI, at least eight recognized forms of osteogenesis imperfecta, from type I through type VIII. They can be distinguished by their signs and symptoms, although their characteristic features may overlap (Greeley, et al., 2013). This patient apparently has the severe forms of osteogenesis imperfecta, including type I, which are characterized by bone fractures during childhood that often result frequent bone fractures from little or minor trauma. This child presented with a blue or grey tint to the part of the eye that is usually white,

Osteogenesis Imperfecta (OI) is an inherited disorder characterized by extreme fragility of the bones also known as ‘brittle bone disease’.

Imagine that he lets out a cry when being bathed, and you later learn that he has multiple fractures in his femur. Imagine learning that during birth he has fractures many ribs and X-rays show that he has several more healed fractures. This disorder is known as osteogenesis imperfecta, a genetic disorder that causes bones to be very fragile and to break easily. In most OI cases, there is a deformity that affects all structures that are made up of Type 1 collagen, like bones, cartilage, and ligaments. This deformity is based on a mutation that causes the genes encoding for type 1 collagen to be effected, and in turn reduces the amount of collagen in the bones. This mutation, most commonly known to be autosomal dominant, can lead to many different types of OI, ranging from a few fractures a year to prenatal death. We need more innovative approaches and better solutions to find a cure for this disease instead of just using braces and surgery that only improves living condition, but does not give patients a normal

Bisphosphonates (BPs) are the most commonly prescription for postmenopausal osteoporosis, however, difficult dosing regimens and multiple side effects can lead to low compliance [5]. A large proportion achieve adequate low adherence with BPs at 1year, resulting in an increasing risk of fracture [6,7]. Moreover, some concerns about bisphosphonates include gastrointestinal intolerability, musculoskeletal pain, ocular symptom, acute renal failure, atrial fibrillation, a possible increased risk of atypical femoral fractures and osteonecrosis of the jaw [8]. Efficacy, tolerability, and route of administration appear to be more important than frequency of dosing in determining adherence to anti-osteoporosis medications [9]. Nonetheless, there is

There are numerous factors that contribute to the development of this horrible disease, but the most important factor is vitamin D deficiency. When the minerals in osteoid crystallize, they require adequate concentration of calcium and phosphate. When the concentration is not at the correct level, ossification does not proceed normally (Huether & McCance, 2008). Vitamin D regulates the absorption of calcium from the intestine. When there is a lack of vitamin D, the concentration of calcium begins to fall (Huether & McCance, 2008). The body begins to regulate this calcium drop by increases the amount of PTH synthesis and secretion (Huether & McCance, 2008). An increase of PTH causes a clearance of phosphate and without the correct levels of phosphate mineralization of the bones cannot proceed in the correct manor (Huether & McCance, 2008). The abnormality of bone growth can occur in spongy and compact bone (Mayo

Osteogenesis Imperfecta (OI), or known as “brittle bone disease,” is a rare genetic disease that causes weak bones that may break easily. “OI is caused by a mutation (change) in a gene that affects bone formation, bone strength and the structure of other tissues.” (+++++++) From infancy through puberty, people with OI can expect frequent bone injuries but, injuries decrease in young adult years. Bone injuries may come back during old age.

Osteoporosis is described by the NHS as “a condition that weakens bones” and is fairly common, affecting roughly 3 million, with more than 300,000 people receiving treatment each year. Fractures are extremely common as the weakened bones are more susceptible to damage, even coughing may cause vertebral damage. Osteoporosis can be classified as type I or II, “both type I and type II osteoporosis occur through an imbalance between total skeletal bone formation and bone resorption which is sustained over many years” (Theobald, 2005), and are related to a lack of vitamin

I think you might like to know that on my way here, I chanced upon many beggars. Being the lower class, they were not very respectable. I called the sheriff swiftly and requested him to pick up my unexpected visitors. But now, we have more pressing matters to discuss, such as your osteoporosis. I have brought over the medication needed to treat osteoporosis. Did you know SERMs are medications that have a similar effect on bone as the hormone estrogen? They help to maintain bone density and reduce the risk of fracture, particularly of the spine. My suggestion to you is to take SERMs. You are my nineteenth patient that has osteoporosis. I assure you that quality is best with me. . . .”