Bone disorders: Pathology review

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Bone disorders: Pathology review



Bone disorders: Pathology review

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A 9-year-old boy is brought to the pediatrician by his parents because of bone pain and an abnormal gait pattern. The patient and his family recently immigrated to the United States from India. Prior to immigrating, the patient’s diet consisted mostly of rice and salted vegetables due to food shortages. Vitals are within normal limits. He is below the 10th percentile for height and weight. Radiographic imaging reveals the following findings:  

Image reproduced from Radiopedia  

Which of the following set of laboratory findings will be most likely present in this patient?  


While on your rounds, you see two individuals. First up is Jenna, a 70-year-old female who presents with left hip pain after falling while getting out of bed. She sustained a fracture of the right hip, and preoperative chest x-ray reveals that she had pre-existing asymptomatic vertebral fractures before her fall. She denies any other symptoms and physical examination was otherwise normal. Then you see Gerald, a 46-year-old male who presents with a mild but noticeable limp and hip pain on the right side after falling from a chair. Examination is unremarkable. In Jenna’s case, a DEXA scan was performed, revealing a T -2.8 score. In Gerald’s case, radiographs of the hip showed a right hip fracture and abnormally dense hip bones.

Both seem to have some type of bone disorder. But first, a bit of physiology. Bones have a hard-external layer of cortical bone and a softer internal layer of spongy bone composed of trabeculae. The trabeculae are like a framework of beams that give structural support to the spongy bone. Now, these are replaced every few years in a process called bone remodeling. The process has two steps: bone resorption, which is when osteoclasts break down bone by releasing hydrogen and collagenases, and bone formation, which is when osteoblasts form new bone by secreting osteoid seam. Osteoid seam is mainly made up of collagen and it acts like a scaffold upon which hydroxyapatite, a combination of calcium and phosphate, deposits. Bone formation requires an alkaline environment, which is why bone cells also produce alkaline phosphatase, an important marker of bone cell activity. At a cellular level, remodeling begins when osteoblasts release receptor activator of nuclear factor κβ ligand, or RANKL for short, which binds to RANK receptors on the surface of osteoclast, activating them to begin bone matrix demineralization. Once there’s been sufficient bone demineralization, osteoblasts secrete osteoprotegerin, which inactivates RANKL. This causes the osteoclasts to stop demineralizing the bone, and osteoblasts to secrete osteoid seam. Another high-yield concept is that osteoblasts are derived from mesenchymal stem cells in the periosteum, a membrane covering the surfaces of bones and consisting of an outer fibrous layer and an inner cellular layer. By contrast, osteoclasts originate from hematopoietic progenitor cells, more specifically from a fusion of monocyte and macrophage precursors. These differentiate once osteoblasts secrete RANK-L and macrophage colony-stimulating factor or M-CSF, which interact with their respective receptors on the osteoclast membrane. Now, keep in mind that parathyroid hormone also regulates osteoclast maturation, but it does so indirectly, by stimulating RANK-L and M-CSF secretion from osteoblasts. However, it’s action actually depends on it’s serum levels. At low, intermittent levels, the hormone exerts anabolic effects- meaning it promotes bone formation. Conversely, chronically increased parathyroid hormone levels, like, for example, in primary hyperparathyroidism, cause catabolic effects, meaning it promotes bone resorption. Additionally, the hormone also increases calcium levels and decrease phosphate levels by increasing its urinary excretion.


There are many different types of bone disorders, from common conditions such as osteoporosis to rarer diseases such as Paget's disease. Bone disorders can be caused by a variety of factors, including genetics, infection, trauma, and diet. While some bone disorders can be treated with medication or surgery, others may require more long-term care. Common bone disorders include osteoporosis, a condition in which bones become weak and brittle due to loss of bone density; rickets and osteomalacia in which bones become soft due to calcium or vitamin D deficiency; and Paget's disease of bone in which there is excessive bone resorption and disorganized bone growth that causes bones to become misshapen.


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  2. "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
  3. "An overview and management of osteoporosis" Eur J Rheumatol (2017)
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  5. "Osteopetrosis" Am J Orthop (2003)
  6. "Genetics, pathogenesis and complications of osteopetrosis" Bone (2008)
  7. "Paget's Disease of Bone: Diagnosis and Treatment" The American Journal of Medicine (2018)
  8. "Paget disease of bone" J Clin Inves (2005)
  9. "Rickets" Nature Reviews Disease Primers (2017)
  10. "Genetic Causes of Rickets" Journal of Clinical Research in Pediatric Endocrinology (2018)
  11. "Osteomalacia-Clinical aspects, diagnostics and treatment" Z Rheumatol (2018)

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