Orthopedic pathology, also known as bone pathology is a subspecialty of surgical pathology which deals with the diagnosis and feature of many bone diseases, specifically studying the cause and effects of disorders of the musculoskeletal system. It uses gross and microscopic findings along with the findings of in vivo radiological studies, and occasionally, specimen radiographs to diagnose diseases of the bones. [1]
Orthopaedic disorders may be congenital and there may be hereditary and environmental factors that can affect the normal functioning of the bones, joints, or muscles. [2] Other causes of bone diseases include severe impacts/injuries and weakness in bones/bone loss.
The effects of bone disorders will vary with disease. The effects can occur physically, mentally and financially as well as impact the individuals quality of life. Orthopaedic disorders can drastically affect an individual's functional ability. Individuals who have had bone diseases can experience complications such as extreme pain, fractures, height loss and the ability to be mobile. They can also be more susceptible to other issues, for example, a urinary tract infection (UTI) or pneumonia. Many of these bone disorders could lead to declines in both mental and physical health. In addition to a physical impact, bone disorders can also give rise to psychological ramifications and reflect negatively on an individual's mindset, body image as well as self-esteem, which may result in the individual feeling helpless and yield fears of falling.
To care for bone diseases and disorders is quite expensive. These costs can include both direct and indirect medical expenses as well as possible job loss or productivity loss for the patient. The chances of death vary enormously between the bone disorders due to the differing degree of severity, however many bone diseases do increase an individual's susceptibility to other complications. These disorders depend on multiple factors such as genetics and environmental factors, thus chances range between many individuals. [3]
Individuals are more susceptible to bone fractures as they age with a possibility of more major consequences. This is due to the continual loss of minerals in the bones such as Calcium as well as hormonal changes. Menopause results in mineral loss in bone for women and a slow decline of the production of sex hormones could lead to the development of bone disorders in men, mainly Osteoporosis. The elderly may be more susceptible due to medications they may be taking, worsening in vision as well as decreased ability to use muscle and bones to control balance.
As a common bone disorder, osteoporosis affects a large section of the population, resulting in a reduced quality of life, ill health, a variety of diseases or disabilities and death as a possible consequence. Loss of bone minerals means a decline in bone mass, thus bones will be weaker in some areas resulting in individuals to be at risk of minor or major falls that could be detrimental. It is known that exercise can allow for stronger bones in order to slow down bone loss in individuals as muscle mass can be built to support and reduce the risks of bone disease. Weight and balance training, Aerobic exercise and walking are examples of exercises that can maintain an individual's bone mass. In addition rotational movements in which the bone can be pulled with the muscle are seen to be beneficial. Nutrition and smoking is also very important in the development and prevention of bone diseases. [4]
Symptoms that patients may experience when bone disorders form can include bone deformities, hip pain, overgrowing of bone in an individual's skull which can result in headaches and a loss of hearing, pain and numbness in arm or legs if the spine is affected and an overall weakness in the body particularly in the hip and knee joints. [5]
Individuals that are diagnosed with bone disorders need to pay attention to secondary causes as medications and the presence of other disorders can also have major effects. Drugs that can prevent bone loss are called antiresorptives. They can slow the degradation of the skeletal system and decrease the risk of subsequent bone injuries fractures. They can help in repairing the individual's bone strength. In addition to antiresorptives, anabolic therapy can also promote the build up of bones and prevent prospective risks. [6] There are also drugs that can deteriorate bone mass. Glucocorticoid is produced naturally by the body itself in the form of cortisol, however it is known that high levels of this hormone both naturally and synthetically can result in a decreased ability for the body to form bone cells, instead amplifying the breaking down of bone minerals. This impacts the bone loss in an individual's body. Other medications that can affect the production of bone cells and enhance bone loss and fractures include breast cancer and prostate cancer drugs, anti-seizure drugs, blood pressure medication, heartburn drugs and diuretics. [7] There are also medical conditions such as neurological disorders, malabsorption, sex hormone deficiency, diabetes, kidney disease and hyperthyroidism that can influence bone disorders. [8]
By classifying and understanding the different types of bone diseases, orthopaedic pathologists are able to identify the causes and effects.
The two most common forms of bone cancer are Ewing's sarcoma and osteosarcoma. [9] They are highly aggressive pediatric tumours. Ewing sarcoma form in bones or soft tissue, whereas osteosarcoma makes weakened bones at the end of longer ones. [10]
There are multiple other bone cancers that are more rare:
Chondrosarcoma is identified mainly through the production of cartilage from the cells. Depending on the type of chondrosarcoma, it ranges from a slow growth which is able to be removed, to a rapid growth and uncontrollable spread to other parts of the body, known as metastasis. [11]
A Chordoma is another type of cancer that slowly grows into nearby bones and many soft tissues in the spine, ranging from the base of the skull to the tailbone. Chordomas have around a 40% metastasis rate and mainly spread to the lungs. [12]
(rare cases) soft-tissue sarcoma causes:
Undifferentiated pleomorphic sarcoma (UPS) is a form of soft tissue cancer, which mainly targets the arms and legs. It is undifferentiated as under a microscope, the tumour cells appear different to the body cells in which it develops, and is characterised as pleomorphic because it takes many different forms and sizes. [13]
Fibrosarcoma occurs in the fibrous cells that join muscles to bones, most commonly in the arms, legs and pelvis [14]
Sarcoma of Paget's disease of the bone occurs in people that already have Paget's disease, mainly aged above 70. It is very aggressive and difficult to control [15]
Common orthopaedic diseases include; arthritis, back/foot/hand/knee/neck/shoulder pains, osteoporosis, Paget's disease of the bone and soft-tissue injuries. [16]
Bone diseases include non-neoplastic disorders, which are diseases that are not caused by abnormal growths such as cancer. These consist of genetic diseases, osteoporosis, infections of the bone, and Paget's disease of bone. [17]
Neuromotor impairments refer to the conditions that are established at or before birth in the affected person, regarding damage or unnatural behaviors of the brain and spinal cord, or more generally, the Nervous system. The transmission of specific signals through Neurons by the brain to all parts of the body is hindered by neuromotor impairments, generally causing a range of problems regarding motion and movement of all parts of the body. Common effects are loss of limb functionality, urinary control, and the spinal alignment.
two examples of neuromotor impairments are Cerebral palsy and Spina bifida. [18]
Degenerative diseases are classified due to their nature of destroying Motor neurons, responsible for the movement of all muscle groups within the body. Common examples of degenerative diseases are Parkinson's disease and Muscular Dystrophy. [18]
Musculoskeletal disorders (or MSDs) are disorders that directly alter the movement and capabilities of the musculoskeletal system or movement of the body. This includes parts such as the muscles, nerves, ligaments, tendons, nerves, etc. [19] These disorders or diseases include Carpal tunnel syndrome, Tendonitis, tedndon/muscle/ligament strains and sprains, Spinal disc herniation, and more. [18]
The results from identification techniques help orthopaedic pathologists diagnose the disease.
Commonly used techniques include; Arthrography, blood tests and bone scans, Computed Tomography (CT scans) and intrathecal contrast enhanced CT scans, Doppler ultrasonography, Flexibility/range of motion tests, Radiographs (x-rays) and x-ray Absorptiometry, Magnetic resonance imaging (MRI), muscle tests, physical examinations by observation and Lab studies. [20]
During a Biopsy, depending on the type and location of the tumour, an orthopaedic pathologist will examine the tissue sample removed from the patient and interpret the cells, tissues, and organs to diagnose disease [21]
Image guided biopsies include radiographs (x-rays) and computed tomographies (CT scans). These diagnostic techniques are very common imaging techniques which can detect many injuries and fractures to the bone as well as tumours. [22] There is no definite evidence which states that small amounts of Radiation from these techniques can cause cancer. [23]
These imaging techniques can be used for the diagnosis of bone cancers and tumours, in order to identify the size and location of the tumour. A biopsy may be necessary to confirm the presence of a bone tumour. Fine-needle aspiration is conducted, where a sample of tissue is taken from the tumorous area using a thin needle. It can then be examined under a microscope and analysed by an orthopaedic pathologist. [20] The age of the patient and the location of the tumour are very important considerations in the diagnosis of bone tumours. [17]
The field of orthopaedic pathology stretches to household pets, mainly in cats and dogs, due to their susceptibility to orthopaedic impairments.
Some common orthopaedic conditions in pets are; Joint problems, fractured (broken bones), Older musculoskeletal injuries, Ruptured ligament, Anterior cruciate ligament injury, Dislocation of the patella and Arthritis. [24]
Arthritis in pets (and humans) occurs when a joint is inflamed due to the deterioration of lubricants and soft tissue surrounding major joints such as the hips, knees, shoulder and elbows.
Osteoarthritis / Degenerative Joint Disease: This is the most common type of arthritis and is a continuous decay of cartilage, caused by friction within the joints through movement.
Septic arthritis / Inflammatory Joint Disease: Septic arthritis is brought upon by infection or an inherited compromised immune system and is seen in the build up of fluid within the joints and an inflammation of cartilage.
Rheumatoid arthritis / Polyarthritis: Polyarthritis is the result of the body's immune system attacking a joint, causing damage to cartilage and tissue. [25]
A physical test is conducted for signs of the following: Crepitus (grinding/cracking/grating/crunching etc. of joints), rough/deformed bones, Discomfort associated to swelling or tenderness, or Muscle atrophy (Decrease in muscle size).
If required, the following tests may be used;
Radiograph (x-ray) with the animal under Anesthesia and if necessary, a Radiocontrast agent (contrast dye) may be used in the joints before undergoing the test.
Force plate analysis, where a pressure plate on the floor reads the distribution of weight by the dog/cat to detect a favouring of one limb over the others.
Joint fluid aspiration, which is the physical removal of fluid around joints to confirm either degenerative or inflammatory arthritis [25] [26]
The human skeleton is the internal framework of the human body. It is composed of around 270 bones at birth – this total decreases to around 206 bones by adulthood after some bones get fused together. The bone mass in the skeleton makes up about 14% of the total body weight and reaches maximum mass between the ages of 25 and 30. The human skeleton can be divided into the axial skeleton and the appendicular skeleton. The axial skeleton is formed by the vertebral column, the rib cage, the skull and other associated bones. The appendicular skeleton, which is attached to the axial skeleton, is formed by the shoulder girdle, the pelvic girdle and the bones of the upper and lower limbs.
Rheumatology is a branch of medicine devoted to the diagnosis and management of disorders whose common feature is inflammation in the bones, muscles, joints, and internal organs. Rheumatology covers more than 100 different complex diseases, collectively known as rheumatic diseases, which includes many forms of arthritis as well as lupus and Sjögren's syndrome. Doctors who have undergone formal training in rheumatology are called rheumatologists.
Shoulder problems including pain, are one of the more common reasons for physician visits for musculoskeletal symptoms. The shoulder is the most movable joint in the body. However, it is an unstable joint because of the range of motion allowed. This instability increases the likelihood of joint injury, often leading to a degenerative process in which tissues break down and no longer function well.
The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) is one of the institutes and centers that make up the National Institutes of Health, an agency of the United States Department of Health and Human Services (HHS).
Paget's disease of bone is a condition involving cellular remodeling and deformity of one or more bones. The affected bones show signs of dysregulated bone remodeling at the microscopic level, specifically excessive bone breakdown and subsequent disorganized new bone formation. These structural changes cause the bone to weaken, which may result in deformity, pain, fracture or arthritis of associated joints.
The human musculoskeletal system is an organ system that gives humans the ability to move using their muscular and skeletal systems. The musculoskeletal system provides form, support, stability, and movement to the body.
Chondrosarcoma is a bone sarcoma, a primary cancer composed of cells derived from transformed cells that produce cartilage. A chondrosarcoma is a member of a category of tumors of bone and soft tissue known as sarcomas. About 30% of bone sarcomas are chondrosarcomas. It is resistant to chemotherapy and radiotherapy. Unlike other primary bone sarcomas that mainly affect children and adolescents, a chondrosarcoma can present at any age. It more often affects the axial skeleton than the appendicular skeleton.
Bone pain is pain coming from a bone, and is caused by damaging stimuli. It occurs as a result of a wide range of diseases or physical conditions or both, and may severely impair the quality of life.
A pathologic fracture is a bone fracture caused by weakness of the bone structure that leads to decrease mechanical resistance to normal mechanical loads. This process is most commonly due to osteoporosis, but may also be due to other pathologies such as cancer, infection, inherited bone disorders, or a bone cyst. Only a small number of conditions are commonly responsible for pathological fractures, including osteoporosis, osteomalacia, Paget's disease, Osteitis, osteogenesis imperfecta, benign bone tumours and cysts, secondary malignant bone tumours and primary malignant bone tumours.
Winchester syndrome is a rare hereditary connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal and tarsal bones, and osteoporosis. Winchester syndrome was once considered to be related to a similar condition, multicentric osteolysis, nodulosis, and arthropathy (MONA). However, it was discovered that the two are caused by mutations found in different genes; however they mostly produce the same phenotype or clinical picture. Appearances resemble rheumatoid arthritis. Increased uronic acid is demonstrated in cultured fibroblasts from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a mucopolysaccharidosis. Winchester syndrome is thought to be inherited as an autosomal recessive trait.
Knee pain is pain in or around the knee.
The International Osteoporosis Foundation (IOF), headquartered in Nyon, Switzerland, is a non-governmental organization (NGO) founded in 1998. It was formed from the merger of the European Foundation for Osteoporosis, founded in 1987, and the International Federation of Societies on Skeletal Diseases. The foundation functions as a global alliance of individuals and organizations concerned with the prevention, diagnosis and treatment of osteoporosis and musculoskeletal bone disease. The goal of the Foundation is to increase the early detection of osteoporosis and related musculoskeletal diseases, as well as to improve the treatment of these conditions through international collaboration among national healthcare systems and governments. The Foundation is the largest global NGO dedicated to osteoporosis and musculoskeletal diseases.
John H. Healey is an American cancer surgeon, researcher, and expert in the surgical treatment of benign and malignant bone tumors and other musculoskeletal cancers. He serves as Chair of the Orthopaedic Service and Stephen P. McDermott Chair in Surgery at Memorial Sloan-Kettering Cancer Center (MSKCC), as well as Professor of Surgery at Weill Cornell Medical College, in New York, NY.
Nikos Athanasou is a short story writer and novelist and musculoskeletal pathologist and scientist. He was born in Perth and grew up in Sydney where he studied medicine. He moved to England and is currently Professor of Musculoskeletal Pathology at Oxford University and a Fellow of Wadham College.
The following outline is provided as an overview of and topical guide to trauma and orthopaedics:
Orthopedic surgery is the branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal injuries, sports injuries, degenerative diseases, infections, bone tumours, and congenital limb deformities. Trauma surgery and traumatology is a sub-specialty dealing with the operative management of fractures, major trauma and the multiply-injured patient.
Pain in the hip is the experience of pain in the muscles or joints in the hip/ pelvic region, a condition commonly arising from any of a number of factors. Sometimes it is closely associated with lower back pain.
Locomotive syndrome is a medical condition of decreased mobility due to disorders of the locomotor system. The locomotor system comprises bones, joints, muscles and nerves. It is a concept put forward by three professional medical societies in Japan: the Japanese Society for Musculoskeletal Medicine, the Japanese Orthopaedic Association, and the Japanese Clinical Orthopaedic Association. Locomotive syndrome is generally found in the ageing population as locomotor functions deteriorate with age. Symptoms of locomotive syndrome include limitations in joint mobility, pain, balance disorder, malalignment and gait abnormality. Locomotive syndrome is commonly caused by chronic locomotive organ diseases. Diagnosis and assessment of locomotive syndrome is done using several tests such as the stand-up and two-step tests. The risk of having locomotive syndrome can be decreased via adequate nutrition, attainment of an exercise habit and being active.
Iliocostal friction syndrome, also known as costoiliac impingement syndrome, is a condition in which the costal margin comes in contact with the iliac crest. The condition presents as low back pain which may radiate to other surrounding areas as a result of irritated nerve, tendon, and muscle structures. It may occur unilaterally due to conditions such as scoliosis, or bilaterally due to conditions such as osteoporosis and hyperkyphosis.
Elbow pain generally refers to discomfort in the joint (Elbow) between the upper arm and forearm. Elbow pain is a common complaint in both the emergency department and in primary care offices. The CDC estimated that 1.15 million people visited to emergency room for elbow or forearm related injuries in 2020. There are many possible causes of elbow discomfort but the most common are trauma, infection, and inflammation. This pain may be acute, chronic or associated with a number of other symptoms on presentation. Treatments range from conservative measures, like ice and rest, to surgical interventions depending on the underlying cause and severity.