ANGITIA - INNOVATION FOR PATIENTS

Diseases

Degenerative Disc Disease

Osteoporosis

Osteogenesis Imperfecta

Bone Metastasis

Nonunion

Osteoarthritis

Muscle Disorders

Degenerative Disc Disease

Degenerative disc disease is an age-related condition that happens when one or more of the discs between the vertebrae of the spinal column deteriorates or breaks down, leading to pain. Despite its name, degenerative disc disease is not a disease but a natural occurrence that comes with aging. The rubbery discs between the vertebrae normally allow for flexing and bending of the back, like shock absorbers. However, with time, they get worn out and offer less protection. As a result, there may be weakness, numbness, and pain radiating down the leg.

The goal of degenerative disc disease treatment is to ease pain and stop further damage, as spinal discs 'don't repair themselves. Disease treatment and management include surgical and non-surgical options. One of the surgical options is disc replacement. Other surgical interventions like spinal fusion connects affected vertebrae to strengthen them. Non-surgical options include acupuncture, back braces, and pain management.

Spinal fusion is one of the most widely used surgical proceduress to treat or relieve symptoms of spinal problems. This procedure permanently joins two or more vertebrae into one solid bone with no space between them. The recovery process may take several months, and most patients will benefit from a general pain reduction. However, since the procedure changes how the spine functions by immobilizing one of its sections, the areas above and below the fusion are at an increased risk for wear and tear. If they deteriorate, it may become painful and bring additional problems.

References:
1. https://www.medicalnewstoday.com/articles/266630
2. https://www.cedars-sinai.org/health-library/diseases-and-conditions/d/degenerative-disc-disease.html
3. https://my.clevelandclinic.org/health/diseases/16912-degenerative-disk-disease
4. https://www.healthline.com/health/spinal-fusion

Osteoporosis

Osteoporosis is a bone disease that develops when bone mineral density and bone mass decreases, or when the quality or structure of bone changes. This can lead to a decrease in bone strength that can increase the risk of fractures.
Osteoporosis affects women and men of all races and ethnic groups. Osteoporosis can occur at any age, although the risk for developing the disease increases as you get older. For many women, the disease begins to develop a year or two before menopause. After age 50, one in two women and one in four men will have an osteoporosis-related fracture in their lifetimes. Another 30% have low bone density that puts them at risk of developing osteoporosis. This condition is called osteopenia.
Osteoporosis is a “silent” disease because patients typically do not have symptoms and may not even know they have the disease until a fracture occurs. Osteoporosis is the major cause of fractures in postmenopausal women and in older men. Fractures can occur in any bone but happen most often in bones of the hip, vertebrae in the spine, and wrist. Symptoms of vertebral fracture include severe back pain, loss of height, or spine malformations such as a stooped or hunched posture (kyphosis).
About 200 million people are estimated to have osteoporosis throughout the world. It is responsible for more than two million fractures each year, and this number continues to grow.

References:
1. https://www.bones.nih.gov/health-info/bone/osteoporosis/overview
2. https://my.clevelandclinic.org/health/diseases/4443-osteoporosis

Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or without apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. Osteogenesis imperfecta affects approximately 1 in 10,000 to 20,000 people worldwide. An estimated 25,000 to 50,000 people in the United States have the condition.

There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of OI. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.

The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.

Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.

References:
1. https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta/
2. https://oif.org/informationcenter/about-oi/

Bone Metastasis

Bone metastasis occurs when cancer cells spread (metastasize) from their original site to a bone. Nearly all types of cancer can metastasize to the bones. However, some types of cancer are more prone to bone metastasis such as breast, lung, prostate, kidney, skin, ovarian, and thyroid cancer. Bone metastasis can occur in any bone but more commonly occurs in the spine, hip bone (pelvis), upper leg bone (femur), upper arm bone (humerus), ribs, and the skull. Bone metastasis may be the first sign of cancer, or bone metastasis may occur years after cancer treatment.

Bone metastasis can cause pain and broken bones. When cancer cells spread to the bone, they block or speed up the the osteoblasts and osteoclasts' activities, breaking down or making too much bone. . Either of these changes can make bones more fragile than usual. Bone metastases can cause other problems such as spinal cord compression and high blood calcium levels (hypercalcemia). Spinal cord compression can cause nerve damage leading to paralysis if not treated immediately.

Rarely can bone metastasis be cured but treatments often help reduce pain and other symptoms. Common therapies include bisphosphonate (such as pamidronate and zoledronic acid) and monoclonal antibody (such as denosumab). Treatment with one of these drugs can help prevent further bone damage and events related to weakened bones, such as fractures, hypercalcemia, and spinal cord compression.

References:
1. https://www.mayoclinic.org/diseases-conditions/bone-metastasis/symptoms-causes/syc-20370191
2. https://www.cancer.org/treatment/understanding-your-diagnosis/advanced-cancer/bone-metastases.html

Nonunion

With advanced treatment, most fractures heal adequately. After receiving treatments, new bone tissue begin to form and connect with other bones. However, some bone fractures do not heal even with the best surgical or nonsurgical treatments. Certain risk factors sometimes make it less likely that a bone will heal. When a broken bone doesn't heal, it is called a "nonunion." When a broken bone takes longer than usual to heal, it is called a “delayed union”.

Nonunions occur when the bone lacks adequate stability, blood flow, or both. In addition, nonunions are more likely when the fracture is sustained from a high-impact injury such as a car accident because it often impairs the blood supply.

Patients with nonunions usually continue to experience residual pain at the fracture sites after the initial pain of the fracture disappears. The pain may be constant or evoked only by momvement at the fracture site, and may last for months or even years.

References:
1. https://orthoinfo.aaos.org/en/diseases--conditions/nonunions/
2. https://my.clevelandclinic.org/health/diseases/17010-foot--ankle-fractures-nonunion

Osteoarthritis

Osteoarthritis affects each individual differently. For some, osteoarthritis is relatively mild and does not affect day-to-day activities. For others, it can cause significant pain and disability. Joint damage usually develops gradually over years, although it could worsen quickly in some people. As osteoarthritis begins to develop, it can damage all the areas of the joint, including cartilage, tendons and ligaments, synovium, bone, and meniscus in the knee.

The symptoms of osteoarthritis often begin slowly and start with one or a few joints. The common symptoms of osteoarthritis include:

1. Pain when using the joint which may improve with rest. For some people in the later stages of the disease, the pain may worsen at night. Pain can be localized or widespread.
2. Joint stiffness, usually lasting less than 30 minutes in the morning or after resting for some time.
3. Joint changes that can limit joint movement.
4. Swelling in and around the joint, especially after a lot of activity or use of that area.
5. Changes in the ability to move the joint.
6 .Feeling that the joint is loose or unstable.

There is no available cure for osteoarthritis. However, treatments can help alleviate symptoms such as pain, improve joint function, slow down disease progression, and maintain a good quality of life to prevent disability.

References:
1. https://www.niams.nih.gov/health-topics/osteoarthritis
2. https://medlineplus.gov/osteoarthritis.html

Muscle Disorders

Muscle Disorders are diseases and disorders that affect the human muscle system, and primarily manifest as skeletal muscle weakness. Muscle disorders include dystrophy, neruomuscular conditions, and neuromuscular diseases. These disorders are a large group of conditions that affect the muscles, such as those in the arms and legs or heart and lungs, or the nerves which control the muscles. Muscle disorders may cause weakness or paralysis in the presence of an intact nervous system. There are multiple types of muscle disorders. The common types include myopathies (like Duchenne muscular dystrophy, spinal muscular atrophy), myasthenia gravis, and sarcopenia.

Causes of muscle disorders include age, genetic disorders, inflammation, metabolic disorders, and more.

Symptoms may include muscle weakness that slowly worsens, muscle wasting with loss strength, muscle stiffness, and mobility problems.

References:
1. https://www.physio-pedia.com/Muscle_Disorders
2. https://www.hopkinsmedicine.org/health/conditions-and-diseases/types-of-muscular-dystrophy-and-neuromuscular-diseases
3. https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/symptoms-causes/syc-20375388