genetic bone disorders

Osteoporosis-

Osteoporosis is referred to weak and porous bones that are incapable of maintaining normal bone functions. In vast majority of cases, the disease is progressive but silent (until bones get extremely weak and fracture results with tremendous amount of pain and discomfort).

• Risk factors
• Primary risk factors include female gender, history of smoking, low body weight, advanced age and menopause (or other hormonal aberrations). Any factor that interferes with the appropriate mineralization of bone can lead to osteoporosis (one of the most common bone disorder). Research (6) suggested that after the age of 50 years, almost 20% individuals develop moderate osteoporosis.
• Treatment
• Calcium and Vitamin D supplements are generally recommended in addition to healthy or balanced diet and regular physical activity. Other pharmacological options include bisphosphonates and hormone replacement therapy in elderly subjects.
• Complications
• The primary complications of well-developed osteoporosis are increased risk of pathological fractures, poor healing of fractures and dislocations. According to the study conducted by O. Johnell and JA Kanis (2), approximately 9.0 million fractures were attributed to advanced osteoporosis (in year 2000). The most common sites of advanced involvement were forearm (1.7 million), hip (1.6 million), and clinical vertebral fractures (1.4 million).

Paget disease of bone-

Paget disease of bone is another common musculoskeletal issue that may also involve other systems like hearing. This disorder is characterized by high growth potential of bones that primarily affect long bones of the body. The bones not only increase in size but are also weak and vulnerable to injuries, fractures and dislocations. It is marked by excessive bone resorption with abnormal bone formation that eventually replaces the marrow with fibrous and vascular tissue (4).

• Cause
• The exact paths physiology is unknown. However, it is generally believed to be multi-factorial (with strong role of inheritance). In some cases, the disease is preceded by a viral infection. Most commonly involved bones are skull, spine, long bones of the legand pelvic bones. In most cases, one or two bones are involved more than others (systemic or generalized weakness of bones is uncommon).
• Sign and symptoms
• Classic sign and symptoms that points to the pathogenesis of this disease are
• – Bone pains that is much intense in involved bones but may be generalized.
• – Enlarged bones that are evident on radiological scans (also associated with bone pains).
• – Broken bones due to porous and weak architecture of inner bone matrix.
• – Damaged cartilage in joints that leads to arthritis and high risk of fractures and dislocation of joints.
• Risk factors
• – It is far more common in males as compared to females.
• – Physiologic aging is one of the strongest risk factors associated with pager disease of bone.
• Diagnosis
• The diagnosis of pager disease of bone is made mainly on the basis of radiological exam (like X-rays, CT scan) and serological testing (blood tests, enlarged serum creatinine and alkaline phosphatase).
• Treatment
• The treatment is mainly pharmacological to stop the process of abnormal bone formation and dissolution. Proper exercise and healthy diet also plays a significant role in the prognosis of disease. The overall prognosis is good provided appropriate management and treatment options are taken and disease is identified earlier in the course.

Fracture-

Fracture refers to a breech or break in the continuity of bones. Although, any bone of the body can get fractured if the force of impact is severe, the most commonly fractured bones are long bones of the body (like humerus, ulna, radius, femur, tibia and fibula). In some susceptible individuals, the spinal and pelvic bones can also get fractured (as a result of accidents, falls or assault).

• Sign and symptoms
• The sign and symptoms are generally suggestive of a severe injury (swelling, hematoma formation, severe pain and discomfort, limited range of motion and history of assault or injury).
• Risk factors
• – Certain occupational or recreational activities increase the risk of fractures (like football, base ball, basket ball).
• – Chronic steroid abuse
• – Osteoporosis and other disorders of bone mineral density
• Treatment
• Management of fracture is dependent upon the site, severity and nature of fractures. Most bones can be stabilized by immobilization. However, in case of compound fractures or complicated fractures (when bone is broken into fragments), open surgical reduction or stabilization is done.

Osteochondritis Dissecans

It is yet another rare bone condition in which the cartilage and bone separates from the edges of the long bones due to interruption in the blood supply. The primary patho-physiological feature of this disorder is an unstable joint as a result of separation of affected bony fragment. Most commonly involved joints are knee, elbows, ankles and pelvis. The dislodged pieces of bone are referred as “joint mice”. The primary sign and symptoms are:

– Clicking or cracking sensation whenever the affected joint is moved.

– Limitation of range of motion.

– Weakness of muscles.

– Pain and stiffness that aggravates after mild to moderate physical activity.

• Diagnosis
• Young males and females who are highly active in sports and other physical activities are most vulnerable to develop this joint condition. X-rays and CT scan are the mainstay diagnostic modalities in addition to a detailed history and comprehensive physical examination.
• Treatment
• Surgical removal of the affected piece of bone is required in addition to traditional pain relieving medications like non-steroidal pain medications. In addition, lifestyle modification, bed-rest and physical therapy are also important cornerstones of therapy.

Osteopetroses

Osteopetroses is a rare condition of bone in which the old bone is not recycled by the body. As a result, the overall bone density is increased. The classic symptoms are:

– Thick and vulnerable bones that are liable to get fractured with minimal trauma

– Without management and with severe disease, osteopetroses may culminate in death during infancy

– The overall growth pattern of bone is abnormal (also known as marble bones)

– Production of blood cells is also impaired due to narrow marrow spaces .