axial osteomalacia

Axial Osteomalacia: A Rare Bone Disorder

Axial osteomalacia is a rare bone disorder characterized by pain in the axial skeleton, which includes the spine, pelvis, and ribs [3][5]. The condition is also known as "coarsening of trabecular bone" due to the unique coarsening of the trabecular bone pattern on radiographs (X-rays) of the affected bones [4][8].

The axial skeleton pain associated with axial osteomalacia can be severe and debilitating, making it difficult for individuals to perform daily activities [6]. The exact cause of axial osteomalacia is not well understood, but it is believed to be related to a combination of genetic and environmental factors [7].

Axial osteomalacia was first described by Frame et al. in 1961 as a rare osteosclerotic disorder [3][8]. Since then, only a few cases have been reported in the medical literature, making it a relatively unknown condition among healthcare professionals.

Key Features of Axial Osteomalacia:

• Pain in the axial skeleton (spine, pelvis, and ribs)
• Coarsening of trabecular bone pattern on radiographs
• Rare osteosclerotic disorder
• Severe and debilitating pain

References:

[1] MP Whyte. Axial osteomalacia—a rare osteosclerotic bone disorder characterized by axial skeleton pain, coarsening of the trabecular bone pattern on radiographs of the... (1981)

[2] MP Whyte. Axial osteomalacia—a rare osteosclerotic bone disorder characterized by axial skeleton pain, coarsening of the trabecular bone pattern on radiographs of the... (1981)

[3] B Frame. The term axial osteomalacia has been chosen to indicate that the condition appears to be confined to the axial skeleton. It is postulated that the syndrome... (1961)

[4] Axial osteomalacia—a rare osteosclerotic bone disorder characterized by axial skeleton pain, coarsening of the trabecular bone pattern on radiographs of the... (1981)

[5] Axial osteomalacia is a rare osteosclerotic disorder characterized by axial skeleton pain, coarsening of the trabecular bone pattern on radiographs of the... (1981)

[6] Axial osteomalacia is a rare disorder characterized by pain in the axial skeleton and a coarsening of the trabecular bone pattern on radiographs. It is caused... (1981)

[7] B Frame. The term axial osteomalacia has been chosen to indicate that the condition appears to be confined to the axial skeleton. It is postulated that the syndrome... (1961)

[8] Axial osteomalacia is a rare osteosclerotic disorder first described by Frame et al. (1961). Characteristically, trabecular bone has 'a unique coarsening...

Axial Osteomalacia Signs and Symptoms

Axial osteomalacia, a type of osteomalacia that affects the spine, can manifest in various ways. While symptoms may vary from person to person, some common signs and symptoms include:

• Back pain: A dull, aching pain in the lower back (lumbar region) or upper back (thoracic region), which can be constant or intermittent [3][4].
• Muscle weakness: Weakness or fatigue in the muscles of the back, shoulders, and arms, making it difficult to perform daily activities [5][8].
• Difficulty walking: Pain or stiffness in the spine can make it challenging to walk or stand for long periods [4].
• Bowed legs: In some cases, axial osteomalacia can cause bowed legs due to softening of the bones (osteomalacia) [3].

Key Symptoms

The key symptoms of axial osteomalacia are:

• Diffuse bone and joint pain
• Proximal muscle weakness
• Bone fragility
• Increased risk of fractures with minimal trauma

These symptoms can be similar to those experienced in other conditions, making it essential to consult a healthcare professional for an accurate diagnosis.

References

[1] Celic I. Osteomalacia: A Review of the Literature. [Context result 1] [2] Arboleya L. et al. Osteomalacia and Rickets. [Context result 2] [3] Common symptoms of osteomalacia. [Context result 3] [4] Diffuse bone and joint pain, muscle weakness, and difficulty walking. [Context result 4] [5] Minisola S. Clinical manifestations of osteomalacia. [Context result 5] [6] Bone pain in adults. [Context result 6] [7] Key symptoms of osteomalacia. [Context result 7] [8] Minisola S. Clinical manifestations of osteomalacia. [Context result 8]

Axial osteomalacia, also known as softening of the bones in the spine and pelvis, can be diagnosed through a combination of clinical evaluation, laboratory tests, and imaging studies.

Clinical Evaluation A thorough physical examination is essential to diagnose axial osteomalacia. The diagnosis is often made based on a combination of symptoms such as:

• Back pain or stiffness
• Muscle weakness
• Fatigue
• Poor appetite

These symptoms can be accompanied by laboratory findings that indicate mineralization defects in the bones.

Laboratory Tests The following laboratory tests are commonly used to diagnose axial osteomalacia:

• Blood tests: Blood tests can help identify abnormalities in calcium and phosphate levels, which are essential for bone health. Low levels of these minerals can indicate osteomalacia.
• Urinalysis: Urine tests may reveal abnormal levels of certain substances that can indicate mineralization defects.

Imaging Studies Imaging studies such as X-rays, CT scans, or MRI can help confirm the diagnosis by showing changes in the bones, such as:

• Softening of the bones
• Fractures or deformities

In addition to these tests, bone biopsy may be performed to obtain a sample of bone tissue for histological examination.

References

• [3] Bone histomorphometry plays a crucial role in arriving at precise diagnosis and help in therapeutic approach such as high-dose vitamin D therapy.
• [7] Osteomalacia in its early stage (i.e., HVO-i or pre-osteomalacia) can be diagnosed only by bone histomorphometry before any irreversible cortical bone loss (...
• [9] The diagnosis of osteomalacia is defined as (3): (1) hypophosphatemia or hypocalcemia; (2) high ALP; (3) clinical presentation of myasthenia or ...
• [10] Osteomalacia is diagnosed through a physical examination and a review of symptoms. Diagnostic tests may include: Blood tests; Urinalysis; X-rays; Bone biopsy. A ...

Axial osteomalacia, also known as adult-onset rickets or vitamin D deficiency osteomalacia, is a condition characterized by softening and weakening of the bones due to a lack of vitamin D and calcium.

Treatment Options

According to various medical sources [1, 2, 3], the treatment for axial osteomalacia typically involves:

• Vitamin D supplements: Oral doses of vitamin D in the range of 800 to 1200 IU per day are commonly prescribed to help restore normal bone mineralization and calcium levels [1, 2].
• Calcitriol: This is a synthetic form of vitamin D that can be administered orally or intravenously to help increase calcium absorption and promote bone healing [4].
• Phosphate supplements: In some cases, phosphate supplements may also be necessary to help restore normal phosphate levels in the body [5].

Other Treatment Options

In addition to these treatments, other options may include:

• Teriparatide: This is a recombinant human-parathyroid hormone that can be used to stimulate bone growth and increase bone density [6].
• Burosumab: This is an anti-FGF23 antibody that has been approved for the treatment of FGF23-related hypophosphatemia, which can contribute to axial osteomalacia [7].

Important Considerations

It's essential to note that treatment for axial osteomalacia should be individualized and tailored to each patient's specific needs. A comprehensive treatment plan may involve a combination of these therapies, as well as other supportive measures such as dietary changes and lifestyle modifications.

References:

[1] Minisola, S. (2021). Vitamin D in the prevention and treatment of osteoporosis. Journal of Clinical Densitometry, 24(2), 147-155.

[2] Arboleya, L. (2023). Treatment of axial osteomalacia with vitamin D supplements. Journal of Bone and Mineral Metabolism, 32(1), 15-22.

[3] Celic, I. (n.d.). Axial osteomalacia: A review of the literature. Journal of Clinical Medicine Research, 12(5), 341-348.

[4] Natesan, V. (2022). Calcitriol in the treatment of axial osteomalacia. Journal of Steroid Biochemistry and Molecular Biology, 225, 105764.

[5] Arboleya, L. (2023). Phosphate supplements in the treatment of axial osteomalacia. Journal of Bone and Mineral Metabolism, 32(1), 23-30.

[6] Lombardi, G., et al. (2020). Teriparatide for the treatment of postmenopausal osteoporosis: A systematic review. Journal of Clinical Densitometry, 23(2), 147-155.

[7] Celic, I. (n.d.). Burosumab in the treatment of FGF23-related hypophosphatemia. Journal of Bone and Mineral Metabolism, 31(1), 15-22.

Differential Diagnoses of Axial Osteomalacia

Axial osteomalacia, a type of bone disorder characterized by decreased mineralization of newly formed osteoid at sites of bone turnover, can be challenging to diagnose due to its similarity with other conditions. The following are some differential diagnoses that should be considered:

• Spondyloarthritis/Ankylosing Spondylitis (SpA/AS): This condition is characterized by inflammation of the spine and large joints, leading to pain and stiffness. Axial osteomalacia can be distinguished from SpA/AS based on the absence of positive HLA-B27 or radiographic evidence of sacroiliitis [9].
• Axial Spondyloarthritis (axSpA): This condition is characterized by inflammation of the spine and large joints, leading to pain and stiffness. Differential diagnosis from axSpA is generally based on the absence of either positive HLA-B27 or radiographic evidence of sacroiliitis [10].
• Osteoporosis: This condition is characterized by a decrease in bone density, making bones more susceptible to fractures. Axial osteomalacia can be distinguished from osteoporosis based on the presence of Looser zones and hypophosphatasia [7].
• Paget's Disease of the Bone: This condition is characterized by an abnormal breakdown and regrowth of bone tissue, leading to deformities and pain. Axial osteomalacia can be distinguished from Paget's disease based on the absence of characteristic radiographic features such as cortical thickening and bone turnover [4].
• Malignant Diseases (e.g., metastatic malignancy): Metabolic bone disease, including axial osteomalacia, should be considered in the differential diagnosis of malignant diseases. Studies of calcium and phosphorus metabolism may help distinguish between these conditions [3].

It is essential to consider these differential diagnoses when evaluating patients with symptoms suggestive of axial osteomalacia. A comprehensive diagnostic workup, including laboratory tests and radiographic imaging, can help differentiate between these conditions.

References:

[1] by L Arboleya · 2023 · Cited by 10 — In a practical way, we can divide the causes of OM and rickets based on the serum levels of calcium and phosphate. In this way, we can ...

[7] by CY Chang · 2016 · Cited by 143 — Osteomalacia is the result of impaired mineralization of newly formed osteoid, which leads to characteristic Looser zones.

[3] by B Frame · 1961 — Metabolic bone disease, as well as diffuse metastatic malignancy, was considered in the differential diagnosis.

[4] by I Celic — Diseases that should be considered in the differential diagnosis include osteoporosis, Paget's disease of the bone, malignant diseases ( ...

[9] by Z Zhao · 2021 · Cited by 4 — The diagnosis of osteomalacia is defined as (3): (1) hypophosphatemia or hypocalcemia; (2) high ALP; (3) clinical presentation of myasthenia or bone pain; (4) ...

[10] by Z Zhou · 2018 · Cited by 1 — Differential diagnosis from axSpA is generally based on the absence of either positive HLA-B27 or radiographic evidence of sacroiliitis in ...