Many metabolic bone diseases have a genetic basis, which may be a germline single gene abnormality (i.e. a monogenic or Mendelian disorder), a somatic single gene defect (i.e. a post‐zygotic mosaic disorder), or involve several genetic variants (i.e. oligogenic or polygenic disorders).
What causes metabolic bone disease?
Metabolic bone diseases are disorders of bone strength usually caused by abnormalities of minerals (such as calcium or phosphorus), vitamin D, bone mass or bone structure, with osteoporosis being the most common.
What bone disease is hereditary?
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term “osteogenesis imperfecta” means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause.
Can you cure metabolic bone disease?
More severe cases of MBD may require a short term prescription of oral doses of calicium glubionate or injections of calcium gluconate. Once blood calcium levels are sufficient, calcitonin may be administered to accelerate calcium deposition on the bone. Without treatment, patients with MBD rarely survive.
What are the symptoms of metabolic bone disease?
Typical symptoms of metabolic bone disease include:
- Bowed legs.
- Hard lumps along the legs, spinal column, or jaw.
- Softening and unusual flexibility of the lower jaw.
- Difficulty raising the body off the ground.
- Decreased appetite.
Is metabolic bone disease painful?
In clinical terms, metabolic bone diseases may result in bone pain and loss of height (due to compression of vertebrae), and they predispose patients to fractures. Metabolic diseases of bone often affect bone density. For example, persons with osteoporosis experience a significant decrease in bone density.
Is MBD reversible?
MBD most commonly occurs in lizards and chelonians but can affect snakes too. If left untreated, it is usually fatal, either directly or indirectly. Catching MBD early is key to ensuring that the animal survives and that less permanent damage is done as many of the effects of MBD are non-reversible.
What is the life expectancy of someone with osteogenesis imperfecta?
Life expectancy for males with OI was 9.5 years shorter than that for the general population (72.4 years vs 81.9 years), and for females, was 7.1 years shorter than that for the general population (77.4 years vs 84.5 years).
What is the rarest bone disease?
Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss.
Who is most likely to get osteogenesis imperfecta?
OI occurs in approximately 1 in 20,000 individuals, including people diagnosed after birth. OI occurs with equal frequency among males and females and among racial and ethnic groups.
What kind of doctor treats bone diseases?
The orthopaedist (a doctor who specializes in bone and joint disorders) treats fractures and recommends surgical interventions such as rodding surgery. The orthopaedist plays an important role in the lives of children and adults who have OI.
Who is the best doctor for osteoporosis?
Medical specialists who treat osteoporosis
- Endocrinologists treat the endocrine system, which comprises the glands and hormones that help control the body’s metabolic activity. …
- Rheumatologists diagnose and treat diseases of the bones, joints, muscles and tendons, including arthritis and collagen diseases.
What does an endocrinologist do for bone loss?
Endocrinologists specialize in treating and preventing bone loss and preventing fractures. In addition, endocrinologists treat disorders that may affect bones, such as hyperparathyroidism, low and high levels of calcium. Become familiar with osteoporosis risk factors.
What vitamin helps with the absorption of calcium?
To absorb calcium, your body also needs vitamin D. A few foods naturally contain small amounts of vitamin D, such as canned salmon with bones and egg yolks. You can also get vitamin D from fortified foods and sun exposure.
Can lizards recover from metabolic bone disease?
But not every case of MBD has a happy outcome, and in most cases, recovery rate depends on early detection. “The ones where we haven’t had success is when they have some kind of nerve damage, typically,” says Sadar, who strongly recommends regular wellness exams for reptiles.
Is gout a metabolic disorder?
Tophaceous gout is a disorder of purine metabolism or renal excretion of uric acid. Monosodium urate precipitates, leaving deposits (tophi) throughout the body.