Bone disease

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at September 6, 2016
StartDiseasesBone disease

The human skeleton gives the body its shape and form and consists of 206 bones. Bone diseases are any of those conditions or disorders that involve the abnormal development and/or impairment of the bones. Bone disease can range in severity from mild to life-threatening and cause a wide array of symptoms, including weakness of the bones, joint inflammation (arthritis), and general pain.


Definition & Facts

Some of the most common bone diseases include osteoporosis, Paget’s disease of bone, brittle bone disease (also known as osteogenesis imperfecta), bone cancer, and rickets. Types of bone cancer including the following:

Symptoms & Complaints

Different bone conditions may present with diverse symptoms and complaints depending on the severity and progression of the condition as well as the affected part of the body. Symptoms of various bone diseases may be in just one to two areas of the body, or they may be widespread throughout the body. In many cases individuals with a bone disease may have few to no symptoms.

One of the most common complaints of any bone disease is bone pain. Because many of these diseases change the development of new bone, causing new bone to generate faster or slower than normal, the bone that is created is often softer and weaker than normal bone. This factor can cause the characteristic bone pain as well as deformities and bone fractures.

Some of the most commonly affected areas include the pelvis, skull, spine, and legs.

  • Pelvis – Symptoms in the pelvis may cause hip pain and groin pain, making walking more difficult and even sitting uncomfortable at times.
  • Skull – Issues that present in the skull can cause symptoms such as hearing loss and headaches.
  • Spine – Issues of the spine can be particularly painful. These symptoms generally arise from the compression of the nerve roots in the spine. Symptoms may include tingling, numbness, and generalized pain.
  • Leg – Depending on the condition, issues in the legs may be particularly concerning. The bones in the legs may become weak and bend, causing bow-leggedness. Additionally, the bones in the legs may become enlarged or misshapen causing stress on the nearby joints in the hips and knees.


While the cause of many bone diseases is unknown (in which case they are said to be idiopathic) and/or not preventable, there are a number of environmental factors and genetic factors that cause many different types of bone diseases. Likewise, some conditions may be linked to infection.

Vitamin deficiencies such as a lack of vitamin D or lack of vitamin C are often linked to bone disease in both adults and children. Hormonal imbalances are linked to certain types of bone disease. Osteoporosis is a condition that is linked to hormonal changes and is most common in postmenopausal women over the age of 50.

Another condition known as osteogenesis imperfecta or brittle bone is linked specifically to a genetic mutation that causes the abnormal or reduced production of collagen, a type of connective tissue in the body. Osteomyelitis is a bacterial infection of the bone most commonly caused by Staphylococcus aureus.

In addition to these causes, research indicates that certain factors may increase an individual’s risk of bone disease. Common risk factors include:

  • Age – People over the age of 40 are more likely to develop many of the most common bone diseases. It is common for individuals over the age of 30 to have achieved their peak bone mass and to begin losing bone mass due to the process of aging.
  • Sex – Depending on the disease, sex seems to be a contributing factor in risk. For example, women are more likely to develop osteoporosis while men are more commonly affected by Paget’s disease.
  • National origin – National origin also seems to be a risk factor for many conditions. Individuals originating from England, Scotland, and central Europe and Greece seem to be more predisposed to certain conditions including Paget’s disease.
  • Family history – Family history is also an important indicator of risk for certain bone conditions. This is in large part because many bone conditions are genetically linked.

Diagnosis & Tests

Diagnosis of bone conditions typically involve multiple levels of evaluation. To begin, the doctor typically performs a physical examination to assess the areas of the body causing pain. Additionally, X-rays, a bone scan, and lab testing may be performed. These methods of evaluation are used to identify the changes to the bone that have already occurred and to ascertain the degree of severity of the condition. The diagnostic process will seek to identify the contributing factors to the condition.

  • X-rays are often one of the first evaluation measures taken. This assessment typically reveals abnormalities of the bone and may show areas of enlargement, reabsorption, or other disproportionate development.
  • Bone scans are used to provide a more in-depth assessment of the skeletal system. This assessment involves a radioactive material being injected into the body. The material travels through the body to the most affected areas of the body which then light up when scanned.
  • Lab work is also an important component of assessment. Blood tests may be used to reveal abnormal levels of hormones in the body.

Treatment & Therapy

Specific treatment of various bone diseases depends on the disease and its symptoms and progression. Hormone replacement therapy is often prescribed for individuals affected by osteoporosis.

Surgery is typically only involved in rare cases and may be used to treat such issues as fractures, severely damaged or infected bones, deformed bones, and pressure on the nerves. In the case of bone cancer, surgery may be performed to remove tumors.

Bone cancer may be treated with chemotherapy and radiotherapy. Rickets is treated with vitamin D supplements and getting adequate sunlight. Antibiotics will be used to treat osteomyelitis in order to destroy the underlying bacterial infection.

Prevention & Prophylaxis

As with most conditions, prevention and self-care are among the most effective treatment options. Building strong bones and preventing bone loss in one's later years can involve lifestyle choices such as getting enough calcium and vitamin D in one's diet, getting regular exercise, and avoiding self-damaging habits like drinking alcohol excessively and smoking.

Taking measures to prevent falling especially among the elderly is important for bone health and treating osteoarthritis promptly with such medications as corticosteroids can help prevent underlying bone damage.