ConditionBones, joints & muscles
Bone Disorders: Types, Symptoms and Treatment
A bone disorder is any condition that affects the strength, structure, growth or health of the bones. The most common is osteoporosis, which thins bones and leads to fractures. Others include osteomalacia and rickets from vitamin D deficiency, Paget disease, bone infections, inherited conditions such as osteogenesis imperfecta, and bone tumors. Many bone disorders cause no symptoms until a fracture, while others cause deep, aching bone pain, deformity or reduced height. Most can be detected with X-rays, bone density scans and blood tests.
Also called: Bone disease, skeletal disorder, metabolic bone disease
At a glance
- What it is
- Any disease affecting bone density, structure, growth or blood supply.
- Most common
- Osteoporosis and osteopenia (low bone density).
- Other types
- Osteomalacia and rickets, Paget disease, bone infection, avascular necrosis, inherited disorders, and bone tumors.
- Warning signs
- Fractures from minor falls, loss of height, a stooped back, persistent bone pain, bowed legs.
- Diagnosis
- X-ray, DXA bone density scan, blood tests (calcium, vitamin D, alkaline phosphatase), MRI or bone scan.
When to get help
Call 911 or go to the ER
- A suspected broken bone with deformity, bone through the skin, or a cold, numb limb
- Sudden severe back pain with leg weakness or loss of bladder or bowel control
See a doctor within a day or two
- A bone that is red, hot, swollen and painful, especially with fever (possible bone infection)
- Bone pain that wakes you at night, with weight loss, fatigue or a history of cancer
- A fracture from a minor fall or with no clear injury
Book a routine appointment
- Loss of 4 cm (1.5 inches) or more in height, or a curving upper back
- Persistent aching in the bones, muscle weakness and difficulty climbing stairs
- Bowed legs, delayed walking or frequent fractures in a child
- Risk factors for osteoporosis: women 65 or older, earlier menopause, long-term steroids
How healthy bone works
Bone is living tissue that is constantly broken down by cells called osteoclasts and rebuilt by osteoblasts. This remodeling depends on calcium, phosphate, vitamin D, hormones (estrogen, testosterone, parathyroid hormone) and physical loading. Peak bone mass is reached around age 30. After that, breakdown slowly exceeds building, especially after menopause. Bone disorders occur when this balance, the bone's mineral content, or its structure goes wrong.
Main types of bone disorder
| Disorder | What goes wrong | Typical features |
|---|---|---|
| Osteoporosis | Low bone mass and weakened structure | No symptoms until fractures of the spine, hip or wrist |
| Osteomalacia / rickets | Poor mineralization from vitamin D or phosphate deficiency | Bone pain, muscle weakness; bowed legs in children |
| Paget disease of bone | Disorganized, overactive remodeling | Enlarged, deformed bones, pain, high alkaline phosphatase |
| Osteomyelitis | Bacterial infection of bone | Pain, swelling, fever; after injury, surgery or diabetic ulcers |
| Avascular necrosis | Loss of blood supply to bone | Hip or shoulder pain; steroids, alcohol, sickle cell disease |
| Osteogenesis imperfecta | Inherited collagen defect | Fragile bones, blue-tinged whites of the eyes, hearing loss |
| Fibrous dysplasia | Normal bone replaced by fibrous tissue | Pain, deformity, fractures |
| Hyperparathyroidism | Excess parathyroid hormone removes calcium from bone | Bone loss, kidney stones, high calcium |
| Bone cancer | Primary tumors (osteosarcoma, Ewing sarcoma) or spread from other cancers | Persistent, night-time pain; swelling; fractures |
| Multiple myeloma | Cancer of plasma cells in the marrow | Back pain, fractures, anemia, high calcium, kidney problems |
Joint conditions such as osteoarthritis, rheumatoid arthritis and ankylosing spondylitis also affect bone, but primarily involve joints.
Symptoms
Many bone disorders are silent for years. When symptoms occur, they include:
- fractures from minor falls or everyday activities (fragility fractures)
- loss of height and a stooped posture from spinal compression fractures
- bone pain: a deep, aching pain, often worse at night or with weight-bearing
- deformity: bowed legs, enlarged skull, curved spine
- muscle weakness, especially in the hips and thighs, with osteomalacia
- swelling, warmth and fever with infection
- fatigue, weight loss and night sweats with cancer
Risk factors
- older age and female sex, especially after menopause
- low body weight, smoking and heavy alcohol use
- long-term use of corticosteroids, some anti-seizure medicines, aromatase inhibitors and excess thyroid hormone
- low calcium and vitamin D intake, limited sun exposure, malabsorption (celiac disease, weight-loss surgery)
- chronic kidney disease, hyperparathyroidism and hyperthyroidism
- family history of osteoporosis or hip fracture
- physical inactivity
Diagnosis
- X-rays: show fractures, deformity, Paget disease and many tumors.
- DXA scan: measures bone mineral density at the hip and spine. A T-score of -2.5 or lower indicates osteoporosis; between -1 and -2.5 is osteopenia.
- Blood tests: calcium, phosphate, vitamin D, parathyroid hormone, alkaline phosphatase, kidney and thyroid function, and protein studies for myeloma.
- MRI: detects stress fractures, infection, avascular necrosis and tumors.
- Bone scan or PET: shows areas of increased bone activity.
- Bone biopsy: confirms infection or cancer.
Treatment
Treatment depends on the specific disorder:
- Osteoporosis: calcium and vitamin D, weight-bearing exercise, fall prevention, and medicines such as bisphosphonates, denosumab, or bone-building agents (teriparatide, abaloparatide, romosozumab).
- Osteomalacia and rickets: vitamin D and calcium, or phosphate for inherited forms.
- Paget disease: bisphosphonates, often a single zoledronic acid infusion.
- Osteomyelitis: prolonged antibiotics, and surgery to remove dead bone.
- Avascular necrosis: reducing weight-bearing, core decompression, or joint replacement.
- Bone cancer: surgery, chemotherapy and radiotherapy.
- Fractures: casting, surgery and rehabilitation.
Keeping bones healthy
- get enough calcium (about 1,000 to 1,200 mg a day for most adults, preferably from food) and vitamin D
- do weight-bearing and muscle-strengthening exercise most days
- avoid smoking and limit alcohol
- prevent falls: good lighting, removing trip hazards, balance training, eyesight checks
- ask about a bone density scan if you are a woman 65 or older, or younger with risk factors
Frequently asked questions
What is the most common bone disorder?
Osteoporosis is the most common bone disorder. It affects millions of older adults, especially women after menopause, and causes fragile bones that break easily, most often in the spine, hip and wrist.
What are the symptoms of bone disease?
Many bone diseases cause no symptoms until a fracture occurs. Others cause deep bone pain, loss of height, a stooped back, deformity, muscle weakness or, with infection, swelling, warmth and fever. Pain at night with weight loss needs prompt assessment.
How are bone disorders diagnosed?
Doctors use X-rays to look for fractures and deformity, DXA scans to measure bone density, and blood tests for calcium, vitamin D, parathyroid hormone and alkaline phosphatase. MRI, bone scans and biopsies help diagnose infection, necrosis and tumors.
Can bone disease be reversed?
Some can. Osteomalacia and rickets often heal with vitamin D and calcium. Osteoporosis medicines can increase bone density and greatly cut fracture risk. Infections are usually curable. Inherited disorders and advanced damage are managed rather than cured.
Sources
This guide was written from current patient and clinical guidance, including:
- NIH National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS): Bone Health topics
- Bone Health and Osteoporosis Foundation: Clinician's Guide and patient resources
- MedlinePlus: Bone Diseases
- American Academy of Orthopaedic Surgeons (OrthoInfo): Bone health
- Endocrine Society: Paget's Disease of Bone Clinical Practice Guideline