Metabolic Bone Disease

What is metabolic bone disease?

Metabolic bone diseases are a group of disorders that affect your bone strength. Mineral imbalances (like too much or too little calcium, phosphorous or vitamin D) interfere with bone mass, growth and turnover (when new bone tissue replaces older bone tissue).

Factors that affect your bone cell activity, like genetic conditions and vitamin deficiencies, usually cause the mineral imbalances that lead to weakened bone. Metabolic bone disease can be congenital (meaning, you’re born with it) or acquired (meaning, you developed it later in life).

What are examples of metabolic bone diseases?

Osteoporosis is the most common metabolic bone disease, affecting about 200 million people worldwide. It results in a loss of bone mass (the amount of minerals in your bones), leading to bone weakness and a higher risk of fractures. Osteopenia is a less severe form of low bone density.

Other types of metabolic bone diseases include:

• Cushing syndrome.
• Hypophosphatasia.
• Osteogenesis imperfecta.
• Osteomalacia (called rickets in children).
• Paget’s disease.

How common are metabolic bone diseases?

Some metabolic bone diseases are more common than others. The most common type, osteoporosis, affects approximately 12.6% of Americans aged 50 or over.

Osteogenesis imperfecta (OI), also known as “brittle bone disease,” is much less common. About 25,000 to 50,000 people in the U.S. have OI.

Other metabolic bone diseases like osteomalacia, hypophosphatasia and Paget’s disease are less common than osteoporosis.

What causes metabolic bone diseases?

Not having enough minerals in your bones can gradually weaken or damage them, leading to metabolic bone diseases. Mineral imbalances (whether you’re born with them or develop them later in life) can affect mineral homeostasis, your body’s way of making sure it has the right amounts of calcium, vitamin D and phosphorus. Your bones store these minerals and use them to rebuild and grow.

Metabolic bone disease risk factors

A risk factor is something that increases your chances for developing a condition. Metabolic bone disease risk factors include:

• Being 65 years of age or over.
• Smoking.
• Early menopause (before age 45).
• Inadequate sun exposure (lack of vitamin D).
• Being petite or having a smaller frame.
• Prior hormone therapy for breast or prostate cancer.
• Being an organ transplant recipient.
• Long-term use of antiseizure medications.
• Strong family history of osteoporosis (especially if a biological parent fractured their hip).
• Not getting enough exercise.

You’re also more likely to develop metabolic bone disease if you have certain health issues. Conditions related to metabolic bone disease include:

• Hyperparathyroidism.
• Hypophosphatemia (low phosphorous in your blood).
• Vitamin D deficiency.
• Calcium deficiency.
• Kidney disease.
• Alcohol use disorder.
• Malabsorption.
• Malnutrition.

What are the symptoms of metabolic bone disease?

Symptoms of metabolic bone diseases vary from person to person and may include:

• A decline in height (getting shorter by at least an inch).
• Broken bones.
• Change of posture (stooping or bending forward).
• Difficulty walking.
• Lower back pain.
• Muscle weakness.
• Pain in your bones or hips.
• Difficulty breathing (smaller lung capacity caused by compressed, or pinched, disks in your spine).

It’s important to note that osteoporosis is a silent disease, meaning it causes no pain.

How are metabolic bone diseases diagnosed?

Your healthcare provider may use one or more of these methods to diagnose metabolic bone diseases:

• Blood tests: Providers can use blood tests to check the levels of calcium, phosphorus and vitamin D in your blood. For instance, low calcium, vitamin D or phosphorus may suggest osteomalacia. Low alkaline phosphatase blood levels with high vitamin B6 levels may indicate hypophosphatasia.
• X-rays: Your provider may use X-rays to identify any cracks or fractures. These are signs of conditions like osteoporosis.
• Bone mineral density (BMD) test: This test, also called a dual-energy X-ray absorptiometry (DEXA or DXA) scan, uses a small dose of radiation to show the strength of your wrist, hip and spine bones. As a preventive measure, women and people assigned female at birth should have a BMD test at age 65. Men and people assigned male at birth should have one at age 70. You might need a DXA scan sooner if you have a higher risk for bone loss and fractures.

Is there a treatment for metabolic bone disease?

There are several treatment options available. The one that’s best for you depends on the underlying cause.

Metabolic bone disease treatments include:

• Vitamins.
• Supplements.
• Anabolic agents (bone-building medications).
• Bisphosphonates.
• Denosumab injections.
• Hormone-related therapy such as testosterone, calcitonin and estrogen.
• Physical therapy.
• Weight-bearing exercises.
• Surgery (rare).

Are there side effects of metabolic bone disease treatment?

You may experience side effects from certain medications used to treat metabolic bone diseases, but these depend on the medication used. These may include:

• Flu-like symptoms.
• Headaches.
• Heartburn.
• Impaired kidney function.
• Muscle pain.
• Red, dry, itchy skin.
• Increasing bone pain.

This list isn’t extensive. If you develop any other side effects, let your provider know.

How soon after treatment will I notice improvement?

Most people notice immediate improvement in their strength. But it takes time for your bone mass to improve and for new, healthy bone to grow. Your healthcare provider can tell you what to expect in your situation.

How can I reduce my risk of getting metabolic bone disease?

Genetics play a role in many metabolic bone diseases. For this reason, you can’t always prevent these conditions. But there are things you can do to reduce your risk:

• Schedule preventive screenings for conditions like osteoporosis.
• Stop smoking.
• Cut back on beverages that contain alcohol.
• Exercise regularly.
• Eat a diet rich in calcium and vitamin D.
• Ask your provider about supplements that can help keep your bones healthy.

What can I expect if I have metabolic bone disease?

If you have metabolic bone disease like osteoporosis or osteomalacia, your treatment may include medications, supplements, physical therapy or surgery (in rare cases). Once treatment begins, it can take some time before you start to notice improvement. But over time, with effective treatment, your bones should become stronger.

What is the outlook for someone with metabolic bone disease?

With treatment, the outlook for metabolic bone diseases is good. Proper and timely treatment will help rebuild your bones and slow the loss of bone mass. This can reduce your risk of fractures and improve your quality of life.

How do I take care of myself with metabolic bone disease?

In addition to reducing your risk through screenings and lifestyle changes, taking steps like these to avoid falls can reduce your risk of fractures:

• Learn fall prevention strategies.
• Make any necessary changes to your home to prevent falls.
• Ask your healthcare provider about a fall risk assessment and how to get assistive devices if needed.

Is metabolic bone disease serious?

Without proper diagnosis and treatment, many types of metabolic bone diseases are serious, and some can be life-threatening. For example, having osteoporosis makes you more susceptible to bone fractures. Other conditions, like Cushing’s syndrome, can be fatal if left untreated.

A note from Cleveland Clinic

Metabolic bone diseases are a group of conditions that affect bone mass, bone turnover and bone growth. Some metabolic bone diseases are more common than others, but all of them affect the health of your bones. With proper diagnosis and treatment, you can live an active and fulfilling life. If you have any questions or concerns about your symptoms, treatment plan or outlook, reach out to your healthcare provider, who can address your questions and help you get the care you need.