- Disorders of Bone
Congenital Abnormalities
Osteogenesis Imperfecta (brittle bone syndrome)
Inherited condition which results in deficient synthesis of type 1 collagen, which comprises: bone, teeth, ears, and skin. There are 7 types, Type 1 being the mildest. The pattern and severity of symptoms is dependent upon which type is acquired. Management of the disease will involve multidisciplinary care.
Osteopetrosis
Dysfunction of osteoclast activity which results in defective bone resorption. Symptoms include; multiple fractures, anaemia, infections, cranial nerve palsies. Treatment; bone marrow transplant, corticosteroids.
Metabolic and Nutritional Disorders
Osteoporosis
Defective bone synthesis or increased bone reabsorption resulting in decrease in bone mass. associated with endocrine abnormalities (oestrogen deficiency in menopause, Cushing, hyperthyroidism, calcium deficiency), physical inactivity, genetic bone disorders, anorexia, and liver disease. Symptoms include; back pain, fractures. Treatment; calcium and vitamin D supplements, Bisphosphonates (inhibit osteoclast bone reabsorption), exercise.
Paget Disease of the Bone
Increase in both osteoblastic and osteoclastic activity. A viral infection has been implicated into its cause. Symptoms include; pain and bone growth which can damage joints, tinnitus, vertigo, hearing loss and headaches. Treatment, Bishophosphates (inhibit osteoclastic activity).
Rickets and Osteomalacia
Caused by vitamin D deficiency, which may be a result of, malnutrition, inadequate sunlight exposure, malabsorption (owing to pancreatic insufficiency , liver disease, inflammatory bowel disease) or renal disease. Calcium deficiency, phosphate deficiency, or aluminium toxicity can also be causes. Symptoms include; bone pains and muscle weakness, fractures, skeletal deformities, shortened stature. Treatment, vitamin D supplements and possible treatment of underlying cause.
Scurvy
Vitamin C deficiency. Symptoms include; bleeding, anaemia, impaired wound healing. Treatment, vitamin C supplements.
Neoplasms
Osteochondroma
Benign bone tumor that occurs in areas of bone and cartilage, often found in long bones. Symptoms, bone pain. Treatment surgery if necessary.
Giant Cell Tumor
Benign tumor derived from monocytes, usually found in long bones. More prevalent in women between the ages of 20 to 40. Symptoms, joint pain and other arthritic conditions, fractures. Treatment, surgery.
Osteosarcoma
Tumor derived from malignant osteoblasts which synthesise bone. Tends to occur in the shin, thigh, or upper arm. Most frequently occurs in men between ages 10 to 20. Symptoms, pain and swelling, fractures. Treatment; chemotherapy, surgical resection or limb amputation.
Ewing Sarcoma
Occurs more frequently in boys less that 15 years of age. Associated with a chromosomal translocation. Symptoms; painful swollen enlarging mass, fever and anaemia. Treatment: surgical resection, chemotherapy or radiotherapy.