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$Unique_ID{BRK04076}
$Pretitle{}
$Title{Paget's Disease}
$Subject{Congenital Hyperphosphatasemia Corticalis Deformans Formans
Hyperostosis Corticalis Deformans Hyperphosphatasemia Osteitis deformans
Paget's Disease of Bone Osteoporosis Osteoarthritis Engelmann Disease
Hypophosphatasia Spinal Stenosis Hyperostosis Frontalis Interna}
$Volume{}
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Copyright (C) 1984, 1985, 1987, 1988, 1990, 1991, 1992 National
Organization for Rare Disorders, Inc.

11:
Paget's Disease

** IMPORTANT **
It is possible that the main title of the article (Paget's Disease)
is not the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     Congenital Hyperphosphatasemia
     Corticalis Deformans
     Formans
     Hyperostosis Corticalis Deformans
     Hyperphosphatasemia
     Osteitis deformans
     Paget's Disease of Bone
     Pozzi's

Information on the following diseases can be found in the Related
Disorders section of this report:

     Osteoporosis
     Osteoarthritis
     Engelmann Disease
     Hypophosphatasia
     Spinal Stenosis
     Hyperostosis Frontalis Interna

General Discussion

** REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Paget's disease of the bone is a chronic, slowly progressive skeletal
condition of abnormally rapid bone destruction (osteolytic) and reformation
(osteoblastic).  The new bone is structurally abnormal, dense and fragile.
The bones most frequently affected are in the spine, skull, pelvis and lower
legs.

Symptoms

Early symptoms of Paget's disease include bone pain, joint pain (especially
in the back, hips and knees), and headache.  Physical signs include
enlargement and bowing of the thighs (femurs) and lower legs (tibias), and
enlargement of the skull in the area of the forehead.

As the disease progresses, other signs and symptoms often appear.  These
may include further bowing of the affected limbs, a waddling manner of
walking (gait), muscle and sensory disturbances, and hearing loss.
Congestive heart failure (high-output) may occur.  Tumors of the bone
(osteogenic sarcoma) are a rare complication.

Most cases of Paget's disease are without symptoms (asymptomatic) and are
mild.  These may be identified through x-rays of the pelvis.  When symptoms
occur, they are often vague and hard to distinguish from those of many other
bone diseases such as lumbar spine diseases or osteoarthritis.

Diagnosis is confirmed through blood tests including serum calcium and
phosphorus and elevated serum alkaline phosphatase as compared with other
inflammatory bone diseases.  These other bone conditions usually do not have
elevated serum alkaline phosphatase.  X-rays showing characteristic lesions on
the back of the head (occiput) and thigh bones (femur) are important
diagnostic findings.

Causes

The exact cause of Paget's Disease is not known.

Recent scientific research at the National Institutes of Health suggests
that Paget's disease may be caused by a slow virus.  This type of condition
involves a virus which may stay dormant in the body for many years, and then
reactivate later in life causing disease symptoms.  It is not known whether a
person must be genetically predisposed in order to harbor these types of
viruses.  More research is needed to determine whether genetic and/or slow
virus factors are involved in the cause of this disorder.

It is possible that Paget's Disease may have a genetic factor.  In a few
families the disorder appears to have been inherited through a dominant gene
on the X chromosome.  However, most cases of Paget's disease do not appear to
fit this pattern of inheritance.  Human traits, including the classic genetic
diseases, are the product of the interaction of two genes, one received from
the father and one from the mother.  In X-linked dominant disorders the
female with only one X chromosome affected will develop the disease.  However
the affected male always has a more severe condition.

Affected Population

Paget's Disease most frequently occurs in men but it is more severe when it
affects women.  There may be as many as three million cases in the United
States, but it is rarely diagnosed properly.  Many people may have symptoms so
mild that they do not seek treatment.  The symptoms of Paget's disease occur
most frequently between the ages of 50 and 70, though it has been known to
affect younger adults.  Those with a Western European heritage are more likely
to have the disease.

Related Disorders

Symptoms of the following disorders can be similar to those of Paget's
Disease.  Comparisons may be useful for a differential diagnosis.

Osteoporosis is a disorder of the bones that is characterized by a
decrease in the density and weight of bones (rarefaction).  This can lead to
fractures after even minor trauma.  Osteoporosis can occur frequently in
post-menopausal women or people that are immobile or sedentary.  This
disorder may cause pain, especially in the lower back, and a variety of
deformities.

Osteoarthritis is a form of arthritis that causes the degeneration of
joints in the body.  Initially osteoarthritis is a noninflammatory disease
and causes the gradual deterioration of the cartilage of the joints.  This is
the most common form of arthritis and it usually occurs in older people.
Symptoms may include pain and stiffness particularly in the morning or after
prolonged rest.

Engelmann Disease is a rare genetic bone disorder.  Symptoms include
muscle weakness, bone pain, an unusual way of walking (gait), extreme fatigue
and loss of appetite (anorexia).  This may lead to a general appearance of
being malnourished.  Symptoms usually begin in childhood.  Bone pain can be
severe especially in the femur.  The bones at the base of the skull may be
affected.  (For more information on this disorder, choose "Engelmann Disease"
as your search term in the Rare Disease Database).

Hypophosphatasia is a genetic metabolic disorder that is characterized by
the loss of bone (demineralization).  It can occur in infants, children or
adults.  In infants, the loss of calcium may be associated with a weakening
or bending of the bones.  However, in hypophosphatasia there is a low serum
alkaline phosphatase as opposed to an elevated level in people with Paget's
disease.  (For more information on this disorder, choose "Hypophosphatasia"
as your search term in the Rare Disease Database).

Spinal stenosis is characterized by a constriction or compression of the
space within the spinal canal, nerve root canals or vertebrae.  This
compression may lead to limping and other difficulties with walking, the
inability to retain urine (urinary incontinence), temporary paralysis of the
legs, and pain or burning sensations in the lower back and legs.  Progressive
loss of muscle control may also occur.  (For more information on this
disorder, choose "Spinal Stenosis" as your search term in the Rare Disease
Database).

Hyperostosis Frontalis Interna is a disorder in which there is an
excessive growth or thickening of the frontal bone of the skull.  This
disorder has been found in connection with other conditions such as obesity,
headaches, seizures, diabetes insipidus and disturbances of the sexual
glands.  Other symptoms may include sudden, uncontrollable electrical
discharges of the brain which may cause convulsions or loss of consciousness,
decreased vision, and the appearance of secondary male sexual characteristics
in women (virilization).  There are increased levels of serum alkaline
phosphatase and serum calcium in people with Hyperostosis Frontalis Interna.
(For more information on this disorder, choose "Hyperostosis Frontalis
Interna" as your search term in the Rare Disease Database).

Therapies:  Standard

Treatment for Paget's disease is symptomatic and focuses on relieving pain,
preventing deformity, fractures, and the loss of mobility.

Diphosphonates are effective medications for the treatment of Paget's
disease and are given to people intermittently for periods not exceeding six
months.  During that time the patient is monitored closely for levels of
alkaline phosphatase in the blood.

In patients who do not respond to Diphosphonates, Calcitonin and
Mithramycin (a cytotoxic antibiotic used with great caution) may help slow
down the rate of bone breakdown and bone turnover.

Therapies:  Investigational

Research on Paget's disease is ongoing in the area of bone tissue
reformation; how Paget's Disease affects the synthesis of collagen; the role
of calcitonin, parathyroid, and other hormones in Paget's patients; and on
the development of a method to assess bone turnover in Paget's patients.

Research is being conducted on the use of calcitonin on Paget's patients
who have not responded to or have had side effects from the use of
diphosphonates.   Please contact:

     University of Miami School of Medicine
     Division of Arthritis (VA111)
     P.O. Box 016960
     Miami, FL  33101
     [phone]
     Att:  Roy D. Altman, M.D.

For research currently investigating the cause of Paget's disease
(including viral causes) and for possible clinical studies please contact:

     Columbia Presbyterian Medical Center
     Dept. of Medicine
     630 W. 168th Street
     New York, NY
     [phone]/5731
     Attn:  Robert Canfield, M.D., Ethel Siris, M.D., or Thomas Jacobs, M.D.

The Food and Drug Administration (FDA) has awarded a research grant to
Ethel S. Siris, M.D., Health Sciences, Columbia University College of
Physicians & Surgeons, New York, NY, for studies on oral calcium as a
treatment for Paget's disease.

This disease entry is based upon medical information available through
September 1992.  Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate.  Please check with the agencies listed in the Resources section for
the most current information about this disorder.

Resources

For more information on Paget's Disease, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     The Paget's Disease Foundation, Inc.
     (and other diseases of bone resorption)
     200 Varick St., Suite 1004
     New York, NY  10014-4810
     [phone]
     (800) 23-PAGET
     [phone]

     The National Arthritis and Musculoskeletal and Skin Diseases Information
     Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Ave.
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 703.

CECIL TEXTBOOK OF MEDICINE, 19th Ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990.  Pp. 1431-1433.

PAGET'S DISEASE OF BONE, R.L. Merkow and J.M. Lane; Orthop Clin North Am
(January, 1990; 21(1)).  Pp. 171-189.