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Oncogenic Osteomalacia

Table of Contents

Oncogenic Osteomalacia

Tumor-Induced Osteomalacia; TIO; Tumor-Induced Rickets; Oncogenic Hypophosphatemic Osteomalacia

Oncogenic osteomalacia, also known as tumor-induced osteomalacia, is a rare paraneoplastic syndrome caused by mesenchymal tumors secreting a substance called fibroblast growth factor 23 (FGF23). Read about causes, symptoms and treatment.

Vertebral Column Range of Motion

Image by TheVisualMD

Summary

Severe Osteomalacia Related to Long-Term Intravenous Drug Abuse P03 radiograph of left tibia and fibula

Image by Leslie Gamache, Mark R. Burge/Wikimedia

Severe Osteomalacia Related to Long-Term Intravenous Drug Abuse P03 radiograph of left tibia and fibula

The lateral view of the left tibia and fibula shows severely osteopenic and gracile bones. Fractures involving the mid-tibial and mid-fibular shafts are also seen, but age assessment of these injuries is compromised because of the severe osteopenia.

Image by Leslie Gamache, Mark R. Burge/Wikimedia

What Is Oncogenic Osteomalacia?

Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer.

The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed.

Source: Genetic and Rare Diseases (GARD) Information Center

Causes

Fibroblast

Image by National Human Genome Research Institute (NHGRI)

Fibroblast

A fibroblast is the most common type of cell found in connective tissue.

Image by National Human Genome Research Institute (NHGRI)

What Causes Oncogenic Osteomalacia?

Exactly what causes the development of the tumors associated with tumor-induced osteomalacia is unknown. It is most likely that these tumors develop by chance.

Source: Genetic and Rare Diseases (GARD) Information Center

Symptoms

Bone fractures

Image by OpenStax College

Bone fractures

Compare healthy bone with different types of fractures: (a) closed fracture, (b) open fracture, (c) transverse fracture, (d) spiral fracture, (e) comminuted fracture, (f) impacted fracture, (g) greenstick fracture, and (h) oblique fracture.

Image by OpenStax College

What Are the Signs and Symptoms of Oncogenic Osteomalacia?

The majority of tumors that cause oncogenic osteomalacia are small, slow-growing tumors called phosphaturic mesenchymal tumors (PMT). These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. Oncogenic osteomalacia can occur in children or adults. When the disease occurs in children, it may also be associated with rickets (muscle weakness causing bowing at the knees) and slow growth.

Source: Genetic and Rare Diseases (GARD) Information Center

Inheritance

Inheritance

Image by Mark v1.0/Wikimedia

Inheritance

A cartoon image of two humans, male and female with the expected chances of their children's gene inheritance.

Image by Mark v1.0/Wikimedia

How Is Oncogenic Osteomalacia Inherited?

We were not able to find any reports of more than one person being affected with oncogenic osteomalacia in a family. Therefore, it is not thought that family members of an affected individual are at any increased risk of developing the disease themselves. It is most likely that the disease occurs by chance and does not run in families.

Source: Genetic and Rare Diseases (GARD) Information Center

Diagnosis

Phosphate

Image by Benjah-bmm27

Phosphate

Space filling model of Phosphate

Image by Benjah-bmm27

How Is Oncogenic Osteomalacia Diagnosed?

When oncogenic osteomalacia is suspected, the tumor that is causing the disease must be detected in order to confirm the diagnosis and plan a surgery to remove the tumor. A number of imaging techniques can be used to find the tumor including CT scan, MRI, and MR angiography. In many cases, the tumor is too small to be detected using imaging of the whole body, so other kinds of imaging tests may be necessary. In some cases, it may be necessary to sample levels of FGF23 in multiple blood vessels throughout the body. Parts of the body where FGF23 levels are the highest are more likely to be closer to the tumor.

Source: Genetic and Rare Diseases (GARD) Information Center

Phosphate in Blood Test

Phosphate Blood Test

Also called: Phosphate Blood Levels, Phosphorus, PO4

A phosphate in blood test measures the level of phosphate in your blood. Phosphate blood levels that are too high or too low can be a sign of kidney disease or other serious health problems.

Phosphate Blood Test

Also called: Phosphate Blood Levels, Phosphorus, PO4

A phosphate in blood test measures the level of phosphate in your blood. Phosphate blood levels that are too high or too low can be a sign of kidney disease or other serious health problems.

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Use the slider below to see how your results affect your health.
mg/dL
1
2.5
4.5
Your result is Normal.
The terms phosphate and phosphorus can mean the same thing in test results. So your results may show phosphorus levels rather than phosphate levels.
Related conditions
A phosphate in blood test measures the amount of phosphate in a sample of your blood. Phosphate contains the mineral phosphorus. So, a phosphate test is sometimes called a phosphorus test.
Phosphate is a type of electrolyte. Electrolytes are electrically charged minerals. They help control the amount of fluid and the balance of acids and bases (pH balance) in your body. Your body also needs phosphates for many other important processes, such as:
- Building strong bones and teeth. Most of the phosphate in your body is found in your bones where it is combined with the mineral calcium.
- Making energy.
- Helping your nerves and muscles work properly.
The phosphorus in phosphate comes from the foods you eat, including nuts and seeds, dairy products, dried beans, meats, poultry, and eggs. Your body tightly controls the amount of phosphate in your blood mainly through your:
- Kidneys. They filter extra phosphate from your blood and get rid of it through urine (pee). If your phosphate level is low, your kidneys limit the amount lost through urine.
- Intestines. They control how much phosphorous you absorb from the foods you eat.
The amount of phosphate in your blood is also linked to your levels of:
- Calcium. When blood calcium levels increase, phosphate levels decrease. And when calcium levels decrease, phosphate levels increase.
- Vitamin D. It helps your body use phosphate.
- Parathyroid hormone (PTH). This hormone is made by parathyroid glands in your neck. It helps balance phosphate and calcium levels in your blood.
Abnormal phosphate levels may be a sign of problems with the systems in your body that control phosphate levels. To help understand the cause of abnormal levels, the test is often done with blood tests that measure calcium, vitamin D, and PTH.
Other names: phosphorus test, P, PO4, phosphorus-serum, phosphate, inorganic phosphorus
A phosphate in blood test is often used with other tests to help diagnose and/or monitor:
- Kidney disease, especially chronic kidney disease. High phosphate levels are a common sign that the kidneys aren't working well to get rid of extra phosphate in the blood.
- Bone disorders. High phosphate levels can pull calcium out of bones and weaken them over time.
- Parathyroid disorders. Parathyroid hormones control the balance of phosphate and calcium in the blood. A phosphate test can help show how well the parathyroid glands are working.
A phosphate test may also be used to monitor people who:
- Have diabetes that isn't well controlled
- Have signs of an acid-base imbalance (having too much or too little acid in your blood)
Phosphate levels that are either high or mildly low usually don't cause any symptoms on their own. But you may need a phosphate test with other tests if you:
- Have had an abnormal result on a calcium blood test. A calcium test may be part of a routine exam. Abnormal levels are often linked to abnormal phosphate levels.
- Have symptoms of low calcium levels. High levels of phosphate can lower calcium levels in your blood, which can cause symptoms, such as:
  Nails that break easily, and/or hair that becomes coarse
  Rash and/or itchy skin
  Muscle cramps
  Bone pain
  Seizures
  Irregular heartbeat (arrhythmia)
- Have symptoms of severely low phosphate levels. This condition can become life-threatening and needs immediate treatment. Symptoms may include:
  Muscle pain and/or weakness
  Bone pain
  Changes in your mental condition, such as feeling confused or very irritable
  Seizures
  Coma
You may also need to have your phosphate levels checked if you have or may have a condition that can cause abnormal phosphate levels, such as:
- Kidney disease
- Malnutrition
- Malabsorption syndrome
- A parathyroid gland disorder
- Using certain medicines
The results of your phosphate test may say "phosphorus levels" or "phosphate levels." These terms mean the same thing. The meaning of your test results depends on your symptoms, medical history, and the results of other tests.
In general:
A higher than normal phosphate level is called hyperphosphatemia. High levels are linked to many conditions, including:
- Late stages of chronic kidney disease and kidney failure. If damaged kidneys can't filter out extra phosphate, it can build up in your blood. If you have a condition that affects your kidneys, eating too much phosphorus-rich food may also lead to high phosphate levels.
- Hypoparathyroidism. With this condition, your parathyroid glands don't make enough parathyroid hormone (PTH). When PTH is low, calcium levels are low and phosphate levels are high.
- Acidosis. This means having too much acid in your blood from a pH imbalance. It may be caused by a lung disorder or other health conditions, including kidney disease.
- Long-term use of certain medicines. These include steroids, laxatives, and enemas that contain phosphate.
A lower than normal phosphate level is called hypophosphatemia. Mildly low levels often aren't a health problem. But many conditions that cause low levels may need treatment, including:
- Hyperparathyroidism. With this condition, your parathyroid glands make too much parathyroid hormone, which leads to high levels of blood calcium and low levels of phosphate.
- Vitamin D deficiency. A lack of this vitamin can lead to osteomalacia, a condition that causes soft bones. In children, this condition is called rickets.
- Getting too little phosphorus from food. This is uncommon in the U.S. But some people are more likely to have trouble getting enough phosphorus, including:
  Premature babies
  People who have certain rare genetic disorders, severe malnutrition, alcohol use disorder, or problems absorbing nutrients
- Long-term use of certain medicines. These include antacids that contain aluminum hydroxide or calcium carbonate and certain prescription diuretics ("water pills").
If your phosphate levels are not normal, it doesn't always mean you have a medical condition that needs treatment. Also, children often have higher phosphate levels because their bones are still growing. If you have questions about your results, talk with your provider.
1. https://www.labcorp.com/test-menu/33136/phosphorus [accessed on Sep 07, 2019]
2. https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/8408 [accessed on Sep 07, 2019]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (11)

Phosphorus Test and Phosphorus Rich Foods

Phosphorus Test and Phosphorus Rich Foods : The phosphorus test is used to monitor the levels of phosphorus in the blood. Most of the body's phosphorus is in a form combined with calcium to help form bones and teeth, but it is also found in muscle, nerve tissue, and, in tiny but crucial amounts, within cells throughout the body, where it is a component of key molecules such as DNA. A wide variety of foods, such as meat, eggs, fish, dairy, beans, peas, nuts, and grains contain significant amounts of phosphorus. Plant-based sources of phosphorus, however, are less available to the body because we lack digestive enzymes to fully utilize them.

Image by TheVisualMD

Phosphorus: Tooth

Along with calcium, phosphorus is an important building block of teeth.

Image by TheVisualMD

Phosphorus: Heart Function

Phosphorus assists in the contraction of muscles, nerve conduction and the regulation of heartbeat. Using phosphorus supplements along with potassium supplements may elevate potassium levels, which can result in life-threatening arrhythmias.

Image by TheVisualMD

Fluid & Electrolytes: Phosphate

Video by EmpoweRN/YouTube

Plate of High Phosphorus Food

Most of the body's phosphorus is in a form combined with calcium to help form bones and teeth, but it is also found in muscle, nerve tissue, and, in tiny but crucial amounts, within cells throughout the body, where it is a component of key molecules such as DNA. A wide variety of foods, such as meat, eggs, fish, dairy, beans, peas, nuts, and grains contain significant amounts of phosphorus. Plant-based sources of phosphorus, however, are less available to the body because we lack digestive enzymes to fully utilize them.

Image by TheVisualMD

Phosphorus Ion

Phosphorus is an essential mineral, required by every cell in the body for normal function. It helps filter kidney waste; plays a critical role in energy storage and use; helps with the growth, maintenance, and repair of all tissues, and cells; and is involved in the production of DNA and RNA. Phosphorus aids in the balance and use of many vitamins and minerals. It works closely with calcium to build strong bones and teeth. Phosphorus is found in milk, grains, and protein-rich foods.

Image by TheVisualMD

Phosphate

Space filling model of Phosphate

Image by Benjah-bmm27

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Deficiency) - English

Video by familyhealthservice/YouTube

Phosphorus, Chronic Alcoholism

Most of the body's phosphorus is in a form combined with calcium to help form bones and teeth, but it is also found in muscle, nerve tissue, and, in tiny but crucial amounts, within cells throughout the body, where it is a component of key molecules such as DNA. About 80% of phosphorus resides in the bones and teeth. Because alcohol can leach phosphorus from the bones, phosphorus deficiency is often associated with alcoholism, especially when combined with malnutrition.

Image by TheVisualMD

Phosphorus, Kidney Failure

Most of the body's phosphorus is in a form combined with calcium to help form bones and teeth, but it is also found in muscle, nerve tissue, and, in tiny but crucial amounts, within cells throughout the body, where it is a component of key molecules such as DNA. Higher-than-normal levels of phosphorus are often caused by kidney disease or a diet that has too much phosphorus and too little calcium; a fine balance must be maintained between dietary calcium and phosphorus for optimum bone density.

Image by TheVisualMD

Phosphorus, Heart Function (EKG)

Most of the body's phosphorus is in a form combined with calcium to help form bones and teeth, but it is also found in muscle, nerve tissue, and, in tiny but crucial amounts, within cells throughout the body, where it is a component of key molecules such as DNA. Phosphorus assists in the contraction of muscles, nerve conduction and the regulation of heartbeat. Using phosphorus supplements along with potassium supplements may elevate potassium levels, which can result in life-threatening arrhythmias.

Image by TheVisualMD

Phosphorus Test and Phosphorus Rich Foods

TheVisualMD

Phosphorus: Tooth

TheVisualMD

Phosphorus: Heart Function

TheVisualMD

6:36

Fluid & Electrolytes: Phosphate

EmpoweRN/YouTube

Plate of High Phosphorus Food

TheVisualMD

Phosphorus Ion

TheVisualMD

Phosphate

Benjah-bmm27

19:27

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Deficiency) - English

familyhealthservice/YouTube

Phosphorus, Chronic Alcoholism

TheVisualMD

Phosphorus, Kidney Failure

TheVisualMD

Phosphorus, Heart Function (EKG)

TheVisualMD

Treatment

Surgery

Image by Staff Sgt. Miguel Lara/Wikimedia

Surgery

U.S. Air Force Maj Jonathan Forbes, 455th Expeditionary Medical Operations Squadron neurosurgeon looks through loupes as he performs brain surgery at the Craig Joint Theater Hospital, Bagram Air Field, Afghanistan, Oct. 10, 2014. The loupes allow Forbes to see the surgery at a two times magnification. Forbes removed an 8-centimeter tumor during the five-hour surgery. Forbes is deployed from Travis Air Force Base, Calif., and is a native of New Martinsville, W.Va. (U.S. Air Force photo by Staff Sgt. Miguel Lara III/Released) Unit: 455th Air Expeditionary Wing

Image by Staff Sgt. Miguel Lara/Wikimedia

How Might Oncogenic Osteomalacia Be Treated?

Typically, the tumors associated with oncogenic osteomalacia are not malignant, meaning that they are unlikely to spread to other parts of the body. Therefore, chemotherapy and radiation therapy are not widely used to treat patients with this disease. After the tumor is removed, it is important that affected individuals continue to receive frequent monitoring to make sure that the tumor does not grow back. This monitoring can take place with frequent imaging and testing levels of FGF23 in the blood.

When the tumor cannot be located or cannot be removed surgically, medications are available that can help increase the levels of phosphate and vitamin D in the blood. This is possible by taking phosphate supplements and calcitriol, which helps increase levels of vitamin D.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

PHOSPHOMAX

PHOSPHOMAX- phosphoetanolamine + vitamin K2

Image by Qualittyone/Wikimedia

PHOSPHOMAX

Qualittyone/Wikimedia

Prognosis

Prognosis Icon

Image by mcmurryjulie/Pixabay

Prognosis Icon

Image by mcmurryjulie/Pixabay

What Is the Long-Term Outlook for People with Oncogenic Osteomalacia?

For some people with oncogenic osteomalacia, the tumor that is causing the disease cannot be found because it is so small. For these people, medications that control the levels of phosphate in the blood may help to relieve symptoms. However, it is possible that the medications could cause side effects such as kidney problems. Imaging and other tests should occur at least once a year in order to see if improved technology can help health care providers find the tumor.

Source: Genetic and Rare Diseases (GARD) Information Center

Related HealthJournals

Osteomalacia

Osteomalacia is a disease that is characterized by a weakening of the bone, often due to a deficiency of vitamin D. It can be caused by having a low level of vitamin D in the diet, lack of sun exposure, or as a result of an underlying disease. In children, the condition is called rickets. Read about causes, symptoms and treatment.

Bone Cancer

Bone cancer comes in three types: osteosarcoma, chondrosarcoma, and Ewing's sarcoma. Learn how bone cancer is diagnosed and treated.

Rickets

Rickets is a condition in children in which bones become soft and deformed because they don’t have enough calcium and phosphorus. It is caused by not having enough vitamin D in the diet or by not getting enough sunlight. In adults, this condition is called osteomalacia. Read about causes, symptoms and treatment.

Vitamin D Deficiency

Vitamin D deficiency can lead to a loss of bone density, which can contribute to osteoporosis, fractures (broken bones), and affect overall health. If you have a deficiency, the treatment is with supplements. Learn who is at risk and how a deficiency affects health.

Bone Diseases

Your bones help you move, give you shape and support your body. Bone diseases can make bones easy to break. Learn about different kinds of bone problems and how genetics can play a role.

Bone Structure

Bone tissue (osseous tissue) differs greatly from other tissues in the body. Bone is hard and many of its functions depend on that characteristic hardness.

Bones

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Oncogenic Osteomalacia

Oncogenic osteomalacia, also known as tumor-induced osteomalacia, is a rare paraneoplastic syndrome caused by mesenchymal tumors secreting a substance called fibroblast growth factor 23 (FGF23). Read about causes, symptoms and treatment.

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