DEFINITION

Osteomalacia: Softening of bone, particularly in the sense of bone weakened by demineralization (the
loss of mineral) and most notably by the depletion of calcium from bone.

Osteomalacia may be caused by poor dietary intake or poor absorption of calcium and other minerals
needed to harden bones. Osteomalacia is a characteristic feature of vitamin D deficiency in adults.

The treatment of osteomalacia is by dietary change. Hormone supplements may also be helpful for
post-menopausal women.

Osteomalacia is softening of the bones due to a lack of vitamin D or a problem with

the body's ability to break down and use this vitamin.

Causes

The softer bones seen in persons with osteomalacia have a normal amount of collagen, which gives the
bones its structure, but lack the proper amount of calcium.

There are numerous causes of osteomalacia. In children, the condition is called rickets and is usually
caused by low levels of vitamin D.

Other conditions that may lead to osteomalacia include:

• Not enough vitamin D in the diet

• Not enough exposure to sunlight, which produces vitamin D in the body
• Malabsorption of vitamin D by the intestines

Use of very strong sunscreen, limited exposure of the body to sunlight, short days of sunlight, and smog
are factors that reduce formation of vitamin D in the body. The elderly and those who avoid drinking milk
are at increased risk for osteomalacia.

Other conditions that may cause osteomalacia include:

• Cancer
• Hereditary or acquired disorders of vitamin D metabolism
• Kidney failure and acidosis
• Liver disease
• Phosphate depletion associated with not enough phosphates in the diet
• Side effects of medications used to treat seizures

Symptoms

• Bone fractures that happen with very little injury

• Muscle weakness
• Widespread bone pain, especially in the hips

Symptoms may also occur due to low calcium levels. These include:

• Abnormal heart rhythms

• Numbness around the mouth
 • Numbness of arms and legs
• Spasms of hands or feet

Exams and Tests

Blood tests will be done to check vitamin D, creatinine, calcium, and phosphate levels.

A bone biopsy reveals bone softening.

Bone x-rays and a bone density test can help detect pseudofractures, bone loss, and bone softening.

Other tests may be done to determine if there is a kidney problem or other underlying disorder. These
tests include:

• ALP (alkaline phosphatase) isoenzyme

• PTH

Treatment

Treatment may involve vitamin D, calcium, and phosphorus supplements, taken by mouth. Larger doses
of vitamin D and calcium may be needed for people who cannot properly absorb nutrients into the
intestines.

Regular blood tests may be needed to monitor blood levels of phosphorus and calcium in persons with
certain underlying conditions.

Outlook (Prognosis)

Improvement can be seen within a few weeks in some people with vitamin deficiency disorders.
Complete healing with treatment takes place in 6 months.

Possible Complications

Return of symptoms is a possible complication.

When to Contact a Medical Professional

Call for an appointment with your health care provider if you have symptoms of osteomalacia, or if you
think that you may be at risk for this disorder.

Prevention

A diet rich in vitamin D and getting plenty of sunlight can help prevent osteomalacia due to a vitamin D
deficiency.

References

Wysolmerski JJ. Insogna KL. The Parathyroid Glands, Hypercalcemia, and Hypocalcemia. In:
Kronenberg HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th
ed. St. Louis, Mo: WB Saunders; 2008: chap. 266.

Bringhurst FR, Demay MB, Kronenberg HM. Disorders of Mineral Metabolism. In: Kronenberg HM,
Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. St. Louis, Mo:
WB Saunders; 2008: chap. 27.

Update Date: 7/15/2008

Updated by: Robert Cooper, MD, Endocinology Specialist and Chief of Medicine, Holyoke Medical
Center, Assistant Professor of Medicine, Tufts University School of Medicine, Boston MA Review
provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director,
A.D.A.M., Inc.

Osteomalacia

Causes
Hypophosphatemia
FGF23 and klotho
vitamin D
Microscopic images
Animations
X-rays
Therapy
Phosphate supplements

References

Osteomalacia means "soft bones". Osteoid is the bone protein matrix, composed primarily
of type 1 collagen. When there is insufficient mineral or osteoblast dysfunction, the osteoid
does not mineralize properly, and it accumulates.

When the newly formed bone of the growth plate does not mineralize, the growth plate
becomes thick, wide and irregular. This results in the clinical diagnosis of rickets, and is
seen only in children because adults no longer have growth plates. When the remodeled
bone does not mineralize, osteomalacia occurs, and this happens in all ages. Most of the
hereditary causes of osteomalacia appear during childhood and cause rickets.

New! Brownstein CA. A translocation causing increased alpha-klotho level results in

hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci U S A
2008;105(9):3455-60.
Dentin Matrix Protein 1 (DMP1) is made in the osteocytes. Homozygous mutations in this
gene on the 4th chromosome cause osteomalacia. The DMP1 somehow inhibits secretion or
production of FGF23, so the mutated protein releases the inhibition. Also, the osteocytes
have abnormal morphology (Feng JQ and Lorenz-Depiereux B.)

Imatinib , a drug used to treat certain cancers (CML or gastrointestinal stromal tumors)
causes hypophosphatemia, renal phosphate wasting, and biochemical evidence of low bone
turnover. The mechanisms are not clear - - - the authors suggested it was due to
suppression of the RANK-L signalling, but other drugs which block bone turnover, or which
directly block RANK-L signalling do not cause low phosphate. I wonder if this drug may
 interact with some of the newly discovered Klotho or other
phosphatonins (Berman E).

Hypophosphatasia has a totally different pathophysiology from the other kinds of

osteomalaica. It is caused by deficiency in the enzyme alkaline phosphatase. There are
several isoforms of this enzyme with different functions; the bone form cleaves
pyrophosphate. This is important because the pyrophosphate acts to inhibit mineralization.
Without it, we would all turn into pillars of calcium-phosphate! The bone must be protected
from this inhibition, and so the bone is entirely lined with linging cells that contain alkaline
phosphatase. When the enzyme doesn't work, the pyrophosphatase enters the bone and
prevents mineralization. In homozygous cases the disease is fatal because the bones of
the ribs are so weak the children get pneumonia and breathing difficulty. Diagnosis is
suspected if alkaline phosphatase is low and confirmed with elevated levels of plasma
pyridoxal 5'-phosphate and urine phosphoethanolamine. New work with bone
transplantation gives hope for a treatment of these children (Whyte MP). In adults, partial
deficiency of alkaline phosphatase causes osteomalacia, bone pain and stress fractures.
Patients also suffer from arthritis and chondrocalcinosis, as well as dental abnormalities.
Lowering phosphate intake could reduce pyrophosphate levels. Calcium and vitamin D
should be given carefully, and NOT in high doses, because extra calcium will make the
calcinosis worse. Teriparatide might be beneficial in adults with hypophosphatasia (Whyte
MP).

The bisphosphonates are analogs of pyrophosphate; when a carbon is substituted for the
oxygen the molecule can enter the bones and inhibit mineralization. This is why high doses
of older bisphosphonates like etidronate cause osteomalacia. Newer bisphosphonates are
more potent so the doses given are not high enough to cause osteomalacia.
Microscopic images
Osteomalacia may be suspected on a clinical basis, especially when there is a family
history or lab abnormalities listed on the table above. In uncertain cases, the most reliable
way to establish the diagnosis is with an UNDECALCIFIED bone biopsy. Click images for
larger views

NORMAL: A photomicrograph of a biopsy from a

normal postmenopausal woman showing an osteoid
seam of normal width. Mineralized bone is green and
osteoid is orange.
 OSTEOMALACIA: The
orange-staining osteoid
covers many surfaces
and is thicker than
normal. The second
photo is from part of
the biopsy that was
decalcified and thus it
appears normal. The
osteomalacia cannot be
appreciated.
FOCAL OSTEOMALACIA: Both photos from the same
section of a bone biopsy. Near the cortex is
osteomalacia. This woman had been misdiagnosed
as Paget's disease and had been treated with high
doses of etidronate.

ALUMINUM STAIN. This was from a dialysis patient

with severe osteomalacia. Aluminum stains as a red
line on the surface and in cement lines.

VITAMIN D
DEFICIENCY. The
second biopsy shows
resolution of the
osteomalacia after
treatment.

Click to view an animation of normal remodeling, then compare to osteomalacia. These are
Flash animations. Use your browser's 'back' button to return.

Normal Osteomalacia

Xrays
Click photos for enlarged view.
Here is an xray showing a This is an xray of a
pseudofracture (red arrow) child with bowed
from an adult who has x-linked legs due to rickets Closer view of a knee
hypophosphatemic rickets. (thanks to Dr. Mike showing thick growth
This is a classic pseudofracture Richardson) plates that appear
and is pathognomonic for fuzzy, and widened
osteomalacia. knee joints

Treatment
This really depends on the cause of the osteomalacia. Treatment can be as simple as
vitamin D or as complex as parenteral nutrition. Orthopaedic surgery is frequently
necessary. Patients with X-linked hypophosphatemic rickets usually are treated with a
combination of calcitriol and phosphate supplements, and careful medical monitoring is
needed.

Phosphate supplements
Phosphorus
Name ID Composition
mg/dose

White, 1135 KPO4 155 mg

K-Phos MF (Beach) 125
round NaPO4 350 mg

Brown, 1134 KPO4 305 mg

K-Phos #2 (Beach) 250
oblong NaPO4 700 mg

KPO4 155 mg
White, 1125
K-Phos Neutral (Beach) Na2PO4 852 mg 250
oblong
NaPO4 130 mg

K-Phos (Beach) White, 1111

KPO4 500 mg 114
"Original" round

KPO4 and K2PO4

Neutra-Phos K (Alza) powder 250
1450 mg
NaPO4 and K PO4
Neutra-Phos (Alza) powder 250
1250 mg
Phospha-Soda (Fleet's) solution NaPO4 125 mg/mL
(250mg phosphorus = 8 mmol). Adult dose varies, 1000 - 2000
mg/day

X-linked Hypophosphatemia Network This is a site about hereditary hypophosphatemia

with rickets, usually x-linked (previously called vitaminD resistant rickets)

More about oncogenic osteomalacia.

Osteomalacia: Introduction

OsteomalaciaOsteomalacia is a disease in which the bones become soft and weak.

This can lead to fractures in adults and children and abnormal growth and develoment
in children. When osteomalacia occurs in children, it is called rickets.
Calcium, phosphorus and vitamin D are necessary nutrients for the develoment and
maintenance of strong, healthy bones. Osteomalacia occurs as the result of an inability
of the body to absorb calcium and phosphorus from food and to get these minerals into
the bones to make them strong.

Vitamin D is necessary for this process, and the osteomalacia can result from a variety
of problems with vitamin D. These include a lack of vitamin D in the diet and insufficient
exposure to sunlight. Exposure to sunlight produces vitamin D in the body, and sunlight
is the body's primary source of vitamin D. There can also be a problem with
malabsorptionmalabsorption of vitamin D by the intestines.
Symptoms of osteomalacia include bone deformities, growth problems, and
bone fracturesbone fractures in severe cases. Other more subtle symptoms can appear
in less severe cases. For more details on symptoms, see symptoms of osteomalacia.
OsteomalaciaOsteomalacia is rare in the U.S., because people generally get sufficient
exposure to sunlight for their bodies to manufacture vitamin D. In addition, dairy
products that contain calcium, such as milk, are fortified with vitamin D. In far northern
areas of the world, such as Alaska or in the Scandinavian countries, where the hours of
sunlight can be very short, there is an increased risk of developing osteomalacia.
Other populations at risk for the disease include the elderly, people who live in long-
term care, or people who are lactose intolerantlactose intolerant or do not ingest
 enough dairy products. Always using very strong sunscreen and having
dark skindark skin also increases the risk. Dark skin and sunscreen block the
absorption of the rays of the sun, which are needed for the body to produce vitamin D.
Some chronic diseaseschronic diseases that interfere with vitamin D absorption or
metabolism can cause osteomalacia. These include alcoholism, cancer, liver disease,
celiac disease, and disorders of vitamin D metabolism.
Diagnosis of osteomalacia begins with taking a thorough personal and family medical
history, including symptoms, and a physical examination. Diagnostic tests include blood
tests that measure levels of vitamin D, calcium, and phosphate in the blood. X-rays and
bone density testing can check for fractures and bone loss. However, the most
definitive test is a bone biopsy, which examines a sample of bone tissuebone tissue
under a microscope for bone softening.
Because the symptoms and presentation of osteomalacia are similar to some other
conditions, a delayed or missed diagnosis of the condition is possible. For information
on misdiagnosis, refer to misdiagnosis of osteomalacia.

Osteomalacia is a very preventable disease. It is also treatabletreatable and curable if

diagnosed promptly. Treatment of the condition is tailored to the individual case, the
severity of symptoms, and the presence of any underlying diseases or complications.
For more information on treatment, refer to treatment of osteomalacia. ...more »
OsteomalaciaOsteomalacia: A condition where the bones gradually soften and bend
due to poor calcificationcalcification stemming from a lack or impaired metabolism of
vitamin D. More detailed information about the symptoms, causes, and treatments of
Osteomalacia is available below.

Osteomalacia: Symptoms

The symptoms of osteomalacia vary depending on the stage of the disease and the
individual. Symptoms in adults and children with the disease may include muscle
weakness, bone painbone pain, muscle crampsmuscle cramps,
muscle stiffnessmuscle stiffness, numbness or tingling, weakness, and fatigue.
There may also be abnormal heart rhythms called cardiac arrhythmias. This can be
serious, potentially life threatening symptoms. ...more »

Osteomalacia: Treatments
 The first step in treating osteomalacia is prevention. Osteomalacia is a very preventable
disease. Prevention includes eating a diet that includes a sufficient amount of vitamin
D. Vitamin D is found in fortified dairy products, such as milk, and in egg yolks and oily
fish, such as salmon, mackerel, and sardines. Cod liver oil is also an excellent source
of vitamin ...more »

Osteomalacia: Misdiagnosis

It is possible for a diagnosis of osteomalacia to be delayed or missed. This is because

some symptoms of osteomalacia, such as muscle weakness, fatigue, or bone pain can
be vague, easily overlooked, or attributed to other conditions. One of these conditions is
rheumatoid arthritis.

In addition, osteomalaciaosteomalacia has some similar symptoms and may be

confused with osteoporosis, ...more »

Symptoms of Osteomalacia
Click to Check

• Weak bones
• Bone pain
• Spinal bone pain
• Pelvic bone pain
• Leg bone pain
• more symptoms...»

See full list of 16 symptoms of Osteomalacia

Treatments for Osteomalacia

• Vitamin D
• High-calcium diet
• High-phosphorus diet
• Treatments for hypocalcemia
• Vitamin D - possibly used if condition is caused by vitamin D deficiency
• more treatments...»

Read more about treatments for Osteomalacia

Home Diagnostic Testing

Home medical testing related to OsteomalaciaOsteomalacia:

• Osteoporosis & Bone Health: Home Testing:

o Home Osteoporosis Tests
o Home Bone Loss Tests
• more...»

Wrongly Diagnosed with Osteomalacia?

• Misdiagnosis of Osteomalacia
• Failure to diagnose Osteomalacia
• Hidden causes of Osteomalacia (possibly wrongly diagnosed)
• Undiagnosed: Osteomalacia

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Osteomalacia: Deaths

Read more about Deaths and Osteomalacia.

Diagnostic Tests for Osteomalacia

Test for OsteomalaciaOsteomalacia in your own home

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• X-rays
• Blood tests
• Urine tests
• Tests for hypocalcemia
• more tests...»

Read more about tests for Osteomalacia

Osteomalacia: Complications

Review possible medical complications related to Osteomalacia:

• Fractures
 • Hypocalcemia
• more complications...»

Causes of Osteomalacia

• Vitamin D deficiency
• Malabsorption
• Inadequate sunlight exposure
• Hypocalcemia
• more causes...»

Read more about causes of Osteomalacia

More information about causes of Osteomalacia:

• Drug interactions causing Osteomalacia (23 listings)

• Underlying causes of Osteomalacia
• Osteomalacia as a complication caused by other conditions
• Osteomalacia as a symptom

Disease Topics Related To Osteomalacia

Research the causes of these diseases that are similar to, or related to,
OsteomalaciaOsteomalacia:

• Bone mineralisation
• Chronic renal failure
• Renal tubular acidosis
• Malabsorption syndrome
• Insufficient sun exposure
• Celiac disease
• Tumour induced osteomalacia
• more related diseases...»

Medical Textbooks Online about Osteomalacia

Medical Books Excerpts

• Osteomalacia
• "A Pocket Manual of Differential Diagnosis" (1999)
 • [ read ]

• Rickets
• "The 5-Minute Pediatric Consult" (2008)
• [ read ]

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Misdiagnosis and Osteomalacia

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Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as
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• Bone, Joint and Orthopedic Specialists:

o Orthopedic Surgery
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o Rheumatology (Arthritis / Joint Pain)
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Latest Treatments for Osteomalacia

• Alendronate
• Calcitonin
• Calcium supplementation
• Estrogen
• Etidronate
 • more treatments...»

See full list of 7 latest treatments for Osteomalacia

Patient Surveys for Osteomalacia

• Patient Profile Survey

Take Survey View Results
• Survey about the symptoms of your Osteomalacia
Take Survey View Results

Research about Osteomalacia

Visit our research pages for current research about Osteomalacia treatments.

Clinical Trials for Osteomalacia

The US based website ClinicalTrials.govClinicalTrials.gov lists information on both

federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Osteomalacia include:

• Catheterization to Locate Mesenchymal Tumors in Patients With Tumor-

Induced Osteomalacia or Oncogenic Osteomalacia - This study is currently
recruiting patients (Current: 23 Nov 2006)
• Resistance to Vitamin D or Parathyroid Hormone - This study is currently
recruiting patients (Current: 23 Nov 2006)
• Evaluation and Treatment of Skeletal Diseases - This study is currently
recruiting patients (Current: 23 Nov 2006) - Standard of care treatment
• more trials...»

Read more about Clinical Trials for Osteomalacia

Statistics for Osteomalacia

• Medical statistics for Osteomalacia

• Prevalence and incidence statistics for Osteomalacia
• Death and Mortality statistics for Osteomalacia
• Society statistics for Osteomalacia

Osteomalacia: Broader Related Topics

 • Vitamin D deficiency
• Musculoskeletal conditions
• Metabolic conditions
• Bone or skeletal conditions
• Nutritional conditions
• more types...»

Types of Osteomalacia

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Definitions of Osteomalacia:

A metabolic bone disease that results from either a deficiency in vitamin D, or an

abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The
most common symptoms are bone pain and muscle weakness. When it occurs in
children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.)
--2003 - (Source - Diseases Database)
 Abnormal softening of bones caused by deficiencies of phosphorus or calcium or
vitamin D - (Source - WordNet 2.1)

Osteomalacia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the
National Institutes of Health (NIH). This means that Osteomalacia, or a subtype of
Osteomalacia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Contents for Osteomalacia:

• Osteomalacia
• What is Osteomalacia?
• Online Medical Textbooks for Osteomalacia
• Prevalence and Incidence of Osteomalacia
• Videos related to Osteomalacia
• Causes of Osteomalacia
• Symptoms of Osteomalacia
• Diagnostic Tests for Osteomalacia
• Home Testing and Osteomalacia
• Diagnosis of Osteomalacia
• Signs of Osteomalacia
• Complications of Osteomalacia
• Misdiagnosis of Osteomalacia
• Undiagnosed Osteomalacia
• Misdiagnosis of Underlying Causes of Osteomalacia
• Treatments for Osteomalacia
• Doctors and Medical Specialists for Osteomalacia
• Cure Research for Osteomalacia
• Deaths from Osteomalacia
• Statistics about Osteomalacia
• Hospital Statistics for Osteomalacia
• Glossary for Osteomalacia
• Clinical Trials for Osteomalacia
• External links relating to Osteomalacia
• Osteomalacia (A Pocket Manual of Differential Diagnosis)
• Rickets (The 5-Minute Pediatric Consult)
User Surveys and Discussion Forums

• Surveys relating to Osteomalacia

• Ask Question about Osteomalacia

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