What Is Bone Disease? Understanding Causes, Symptoms, and Treatments

By Dr. Kelli Davis, Pediatric Endocrinologist at Life Pediatric Endocrinology

Bone disease refers to a broad group of conditions that affect the strength, structure, or metabolism of bone tissue. These disorders can lead to pain, deformity, growth problems in children, and an increased risk of fractures in both kids and adults. While many families think of bone health only in terms of broken bones, bone diseases extend far beyond fractures—they can involve genetics, hormones, nutrition, inflammation, and even other medical conditions such as kidney disease or cancer.

According to MedlinePlus, bone diseases include common disorders like osteoporosis, osteomalacia, and Paget’s disease, as well as rare conditions such as osteogenesis imperfecta (OI).

Types of Bone Diseases

1. Osteoporosis

Osteoporosis is the most common bone disease worldwide. It occurs when bone mass decreases and the internal structure of bone weakens, leading to fragile bones that break easily.

• Who is at risk? Older adults, postmenopausal women, and people who take long-term steroids or have certain chronic conditions.

• Diagnosis: A DXA scan that shows a T-score ≤ –2.5, or the presence of a fragility fracture .

• Treatment: Medications that either slow bone loss (antiresorptives like bisphosphonates or denosumab) or stimulate new bone growth (anabolic agents such as teriparatide, abaloparatide, or romosozumab). Calcium, vitamin D, and exercise remain cornerstones of care .

2. Osteomalacia and Rickets

• Osteomalacia in adults and rickets in children occur when bones don’t mineralize properly, often due to vitamin D deficiency.

• Children may develop bowed legs, delayed growth, or muscle weakness. Adults may experience bone pain and frequent fractures.

3. Paget’s Disease of Bone

Paget’s disease involves abnormal bone remodeling—old bone breaks down faster than normal, and new bone forms in a disorganized way. This results in bones that are larger, weaker, and more prone to deformity.

4. Genetic Bone Diseases

One of the best-known is osteogenesis imperfecta (OI), sometimes called “brittle bone disease.” OI is caused by mutations in collagen genes, leading to bones that break with minimal trauma . Children with OI may also have dental problems, hearing loss, and short stature.

5. Bone Disease from Other Medical Conditions

• Chronic kidney disease (renal osteodystrophy): Alters mineral balance, causing fragile bones .

• Multiple myeloma: A cancer of plasma cells that often causes destructive bone lesions .

What Causes Bone Disease?

Bone health depends on a balance between bone-building cells (osteoblasts) and bone-resorbing cells (osteoclasts). When this balance is disrupted, disease develops. Factors that contribute include:

• Inflammation: Chronic inflammation can trigger excessive bone loss .

• Hormonal changes: Estrogen decline after menopause accelerates bone breakdown .

• Mitochondrial dysfunction: Recent research shows energy failure in bone cells plays a role .

• Epigenetics and genetics: DNA mutations and gene regulation errors impact bone strength .

Symptoms of Bone Disease

Symptoms vary by condition but may include:

• Frequent or unexplained fractures

• Bone pain (persistent, dull, or localized)

• Skeletal deformities (bowed legs, curved spine)

• Growth delays in children

• Reduced height in adults (often from spinal fractures)

• Weakness or mobility limitations

If your child or family member experiences repeated fractures or unexplained bone pain, a bone health evaluation by a specialist may be needed.

How Bone Disease Is Diagnosed

At Life Pediatric Endocrinology, we use a combination of:

• Imaging: DXA scans, X-rays, and sometimes MRI.

• Laboratory testing: Vitamin D, calcium, phosphorus, parathyroid hormone, and genetic panels.

• Growth assessment in children: Monitoring growth velocity and bone age.

Treatments and Emerging Therapies

Modern care for bone disease combines traditional and cutting-edge approaches:

• Lifestyle foundations: Adequate calcium, vitamin D, weight-bearing exercise, and avoiding tobacco or excess alcohol.

• Pharmacologic therapy: Bisphosphonates, denosumab, and anabolic agents for osteoporosis .

• Targeted therapy: Research into pathways such as RANKL/OPG and Wnt/β-catenin signaling is shaping the future of treatment .

• Pediatric care: For conditions like OI, we emphasize both medical therapy and supportive care to maximize growth, mobility, and independence.

Final Thoughts

Bone disease is not a single condition but a group of disorders that can affect both children and adults. While some, like osteoporosis, are common, others are rare and require highly specialized care. Advances in research are bringing new hope for families—especially as we better understand the role of genetics, inflammation, and cellular energy in bone health.

As a pediatric endocrinologist specializing in bone disease, my mission at Life Pediatric Endocrinology is to provide compassionate, evidence-based care that empowers families. If you have questions about bone health, growth, or repeated fractures in your child, our team is here to help.

Frequently Asked Questions About Bone Disease

1. What is osteoporosis?
Osteoporosis is a bone disease where bones become thin, fragile, and more likely to break. It’s most common in older adults but can affect younger people with certain risk factors.

2. What is brittle bone disease?
Brittle bone disease, or osteogenesis imperfecta (OI), is a genetic condition that causes bones to break easily—even from minor bumps. Children with OI may also have short stature, dental issues, or hearing loss.

3. How is bone disease diagnosed?
Doctors use imaging like X-rays or DXA scans, lab tests for calcium and vitamin D, and sometimes genetic testing. Osteoporosis is diagnosed by a low DXA score or fragility fractures.

Author: Dr. Kelli Davis, MD – Pediatric Endocrinologist specializing in bone health and metabolic bone disease at Life Pediatric Endocrinology.

Author Credentials:

• Board-certified Pediatric Endocrinologist

• Nationally recognized for expertise in growth, puberty, and bone disease

• Trained at Vanderbilt University with advanced focus on skeletal health and metabolic disorders

• Director of the Bone Health and Growth Program at Life Pediatric Endocrinology

Medical Specialty: Pediatric Endocrinology, Bone and Metabolic Disorders

References

1. Morin SN, Leslie WD, Schousboe JT. Osteoporosis. JAMA. 2025. doi:10.1001/jama.2025.6003.

2. Walker MD, Shane E. Postmenopausal Osteoporosis. N Engl J Med. 2023;389(21):1979-1991. doi:10.1056/NEJMcp2307353.

3. Terkawi MA, Matsumae G, Shimizu T, et al. Interplay Between Inflammation and Pathological Bone Resorption. Int J Mol Sci. 2022;23(3):1786. doi:10.3390/ijms23031786.

4. Gau YC, Yeh TJ, Hsu CM, et al. Pathogenesis and Treatment of Myeloma-Related Bone Disease. Int J Mol Sci. 2022;23(6):3112. doi:10.3390/ijms23063112.

5. Aguilar A, Gifre L, Ureña-Torres P, et al. Pathophysiology of Bone Disease in Chronic Kidney Disease. Front Physiol. 2023;14:1177829. doi:10.3389/fphys.2023.1177829.

6. Xu Y, Ma J, Xu G, et al. Recent Advances in the Epigenetics of Bone Metabolism. J Bone Miner Metab. 2021;39(6):914-924. doi:10.1007/s00774-021-01249-8.

7. Marie PJ.  Osteoblast Dysfunctions in Bone Diseases. Cell Mol Life Sci. 2015;72(7):1347-61. doi:10.1007/s00018-014-1801-2.

8. Zeng Z, Zhou X, Wang Y, et al. Mitophagy—a New Target of Bone Disease. Biomolecules. 2022;12(10):1420. doi:10.3390/biom12101420.

Disclaimer: This article is for educational purposes only and is not a substitute for professional medical advice. Always consult a qualified healthcare provider with questions about your child’s health.