Osteogenesis Imperfecta: History, Causes, and Treatment - Research Paper Example

? Osteogenesis Imperfecta This paper gives a brief introduction on osteogenesis imperfecta; the history, causes and treatment of this disease will also be discussed. Introduction Osteogenesis imperfecta often abbreviated as OI and commonly known as fragile bone disease or Lobstein disease is a genetic disorder which attacks directly on the bones as the name already indicates. People suffering from this disease either possess faulty connective tissue or their bodies lack the ability to form it. This is usually due to the deficit of Type 1 collagen. The reason of this deficiency is the replacement of glycine with amino acid to form bulky amino acids in the triple helix arrangement of collagen. The bigger amino acid network leads to the formation of steric obstruction that creates a swelling in the collagen structure which consequently affects the contact of molecules with one another as well as the nanomechanics of molecules. As a result of this reaction the body responds by dissolving the deformed structure of collagen because if the body does not do so, the interaction existing between the collagen fibers and hydroxyapatite particles that form the bone is changed making them weak and brittle. Another reason that is suggested for the occurrence of this disease is the state of stress at the collagen fibers; when the stress level changes at the points of mutation, where the bigger cut off pressures lead to rapid failing of fibrils even at medium level. There are a lot of reasons all related to the genes that lead to osteogenesis imperfecta. This disease is generally perceived as hereditary however this is not the case. There are eight different types of osteogenesis imperfecta, most common being Type 1. (James, 115) Types of Osteogenesis Imperfecta The eight different types of osteogenesis imperfecta are: Type 1 The quality of collagen in this type is normal but it is not produced in the required quantity. Bones are easily fractured Slight bending of the spinal cord Joints are loosened The tone of muscles becomes poor The color of the sclera i.e. the white part of the eye changes from the normal white to bluish gray. This happens when the color of the choroidal veins lying underneath starts showing on the upper surface due to the thin texture of the sclera. Hearing impairment in infants Slight protuberance of the eyes Type II The quality as well as the quantity of collagen in this type is poor. Most patients suffering from this type of osteogenesis imperfecta die in the initial years of life due to respiratory breakdown or cerebral hemorrhage. The lungs are underdeveloped due to which the patients face respiratory problems. Deformation of bones and small physique Type II is further classified into type IIA, type IIB and type IIC. Type III The quantity if collagen is sufficient but it is not of the required quality. The deformity of bones is such that sometimes they break eve before birth. Possibility of respiratory problems Short physique, bending of the spinal cord and in some cases the shape of rib cage is spiral Joints are loosened The tone of muscles in the arms and legs is of poor quality Discoloration of sclera which turns it form normal white to blue Hearing problems in early ages of infancy Type IV The quantity of collagen is sufficient but quality is not up to the mark. This type is very much similar to Type I as far as the classification is concerned. The fracture of bones starts in the teenage years Rib cage is barrel shaped which leads to deformation of lungs consequently resulting in respiratory problems. The deformity of bone is mild to medium level. Hearing loss starts from a very early age. Type V This has the same clinical characteristics as that of type IV with interconnected appearance of bones being the basic distinguishing factor. Type VI It has the same clinical characteristics as that of type IV. This stage is distinguished by the fish like appearance of the bones. Type VII This type was discovered in the year 2005 and is found to exist in the people belonging to Quebec so far. Also, an alteration in the CRTAP gene causes this type to take its form. Type VIII Osteogenesis Imperfecta caused due to alteration in LEPRE 1 gene is known as type VIII. History of Osteogenesis Imperfecta The term osteogenesis imperfecta dates back to the year 1985 and has been in use since the beginning of 20th century till present date. This disease has possessed various names over the period of time and varies from nation to nation. The most popular terminologies used by common man in different regions are Lobstein syndrome, brittle bone disease and Vrolik syndrome. The older system classifies this disease into 2 types; the mild ones as osteogenesis imperfecta tarda and the severe ones were named as osteogenesis imperfecta congenital. The history dates back to 1000BC when this condition was initially discovered in an Egyptian mummy. Doctors state that this disease was also found in people belonging to the era of 1678 and in the year 1831, another doctor diagnosed it in himself as well as his two brothers. Jean Lobstein treated elder patients suffering from it in 1833 whereas Willem Vrolik worked on this state in 1850’s. Martin Benno Schmidt introduced the idea that this condition could be found in both elders as well as new born. In United States of America, statistics show that the occurrence of osteogenesis imperfecta is 1 per 20,000 births. The incidence of this disease is more or less same all over the world but for some unknown reason its frequency is calculated to be more in Shona and Zimbabwe especially of Type III as compared to Type I and other classifications. Nigeria and South Africa also observe the almost the same pattern with a change in the occurrence of types. (Barbara, 280) Treatment of Osteogenesis Imperfecta At present no cure has been suggested for osteogenesis imperfecta however the basic aim of treatment is to strengthen the bones so as to avoid fractures and maintain the level of mobility. Fosamax commonly known as Alendronate is a drug which has been used to treat the patients suffering from this disease and has provided results which vary from person to person; pills however seem to bear more effective results. The Food and Drug Association (FDA) of United States of America has not yet approved Fosamax as a patent drug to be used in this case since its long term effects have yet not been researched, although it is more often used for the treatment of teenagers. The infections of bone are treated with antibiotics and antiseptics as they occur. Physiotherapy Physiotherapy aims at reducing the chances of fracture meanwhile strengthening the bones and working on the mobility of such individuals and all this is done at a very slow pace and placid manner. It often includes hydrotherapy which involves cushions and other appropriate props to improve and maintain the posture. The individuals are required to change their postures continuously so that the pressure is balanced on all the bones and muscle tone is not affected. Physical Aid Patients feel more comfortable and autonomous when physical aid is used such as wheelchairs, splint, crutches, grabbing arms and altering the house structure according to the patient’s need can also prove to be very helpful during the course of treatment. Biophosphates Biophosphates commonly known as BP’s especially those which have high nitrogen content are being used to increase the mass of the bone so that the chances of fracture are lowered. Biophosphates can be used orally as well as in the injection form; the medicines in both the cases vary according to the prescription and method of application. This treatment method is gaining popularity since it has proven to be effective for the osteogenesis imperfecta patients. The fracture incidences have decreased as far as infants are concerned however this is not quite the case with adults. Studies show that where this therapy is helpful in decreasing the rate of fractures, it can also at some points delay the process of OI healing; however this point has not yet been concluded authentically by the researchers. The method of this treatment is that it is replicated in every two to three months continuing for the entire life span of the patient. Some side effects have also been observed which include pain in bones, low level of calcium, nausea and lightheadedness. Surgery In this process rods of metal are placed in the long bones in order to strengthen them. These rods are composed of stainless steel and have been practiced throughout the world and are very effective in the prevention of fractures and strengthening of bones. (Golder, 312) Conclusion Osteogenesis imperfecta is not only a genetic disorder but a disease anyone can fall victim to. It is categorized into different types with some of them being the most common among all. Researches are continuously making efforts to cure this disease but so far they have not been very successful and the patients have to compromise on the treatments that have been introduced and have been in practice since years. It is very important to adhere to these measures so that the pain can ease as soon as possible without any prolongation. References Barbara, Warren. (2009) Imaging of Arthritis and Metabolic Bone Disease. Elsevier Health Sciences. Golder, Wilson. (2006) Preventive Management for Children with Genetic Conditions. Cambridge University Press. James, Albright. (2000) Osteogenesis Imperfecta. Lippincott. Read More