What is Paget

7/30/2019 What is Paget

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What is Paget's disease?

Paget's disease is a chronic condition of bone characterized by disorder of the normal bone remodeling process. Normal bone has a

balance of forces that act to lay down new bone and take up old bone. This relationship (referred to as "bone remodeling") is essential fo

maintaining the normal calcium levels in our blood. In bone affected by Paget's disease, the bone remodeling is disturbed and not

synchronized. As a result, the bone that is formed is abnormal, enlarged, not as dense, brittle, and prone to breakage (fracture).

Paget's disease affects older skeletal bone of adults. It's estimated that 1% of adults in the U.S. have Paget's disease. There is also an

extremely rare form of Paget's disease in children, referred to as juvenile Paget's disease. Paget's disease is also known as osteitis

deformans.

What causes Paget's disease?

It is not known what causes Paget's disease. Recently, certain genes have been associated with Paget's disease, including the

Sequestrosome 1 gene on chromosome 5. Virus infection may be necessary to trigger Paget's disease in people who have inherited the

genetic tendency to develop the condition by having these genes.

What are Paget's disease symptoms?

Paget's disease commonly causes no symptoms and is often incidentally noted when X-ray tests are obtained for other reasons. Howeve

Paget's disease can cause bone pain, deformity, fracture, andarthritis. The bone pain of Paget's disease is located in the affected bone. T

most common bones affected by Paget's disease include the spine, the thigh bone (femur), the pelvis, the skull, the collarbone (clavicle),

and the upper arm bone (humerus).

The symptoms of Paget's disease depend on the bones affected and the severity of the disease. Enlarged bones can pinch adjacent

nerves, causing tingling and numbness. Bowing of the legs can occur. Hip or knee involvement can lead to arthritis, limping, as well as p

and stiffness of the hip or knee. Headache, loss of vision, and hearing loss can occur when bones of the skull are affected. With very

widespread Paget's disease, it is possible to develop congestive heart failure due to an increased workload on the heart.

How is Paget's disease diagnosed?

Paget's disease is diagnosed based on the X-ray appearance. Paget's disease might also be detected with other imaging tests, such as

a bone scan, MRI scan, and CT scan. Alkaline phosphatase, an enzyme that comes from bone, is frequently elevated in the blood of peowith Paget's disease as a result of the abnormal bone turnover of actively remodeling bone. This blood test is also referred to as the seru

alkaline phosphatase (SAP) and is used to monitor the results of treatment of Paget's disease.

The bone scan is particularly helpful in determining the extent of the involvement of Paget's disease as it provides an image of the entire

skeleton. Bone that is affected by Paget's disease can easily be identified with bone scanning images.

What is the treatment for Paget's disease?

The treatment of Paget's disease is directed toward controlling the disease activity and managing its complications. When Paget's diseas

causes no symptoms and blood testing shows that the level of serum alkaline phosphatase is normal or minimally elevated, no treatment

may be necessary. Bone pain can require anti-inflammatory drugs (NSAIDs) or pain-relieving medications. Bone deformity can require

supports such as heel lifts or specialized footwear. Surgical operations may be necessary for damaged joints, fractures, severely deform

bones, or when nerves are being pinched by enlarged bone. Prior to undergoing an operation on bone affected by Paget's disease, it is

helpful to be treated with medications, such as bisphosphonates orcalcitonin (Miacalcin), as this tends to diminish the risk of surgical

complications, including bleeding.

The medical treatment of the bone of Paget's disease involves either medications called bisphosphonates or injectable calcitonin. These

drugs are also used to treat certain patients with osteoporosis. Bisphosphonates are the mainstay of treatment. There are a number of th

available that are taken by mouth, includingalendronate (Fosamax), risedronate (Actonel), etidronate (Didronel), and tiludronate(Skelid),

that are administered intravenously, including pamidronate (Aredia) and zoledronate (Reclast). In general, oral bisphosphonates are take

first thing in the morning on an empty stomach with 8 ounces of water. They can cause irritation of the stomach and esophagus. Intraven

bisphosphonates can cause temporary muscle and joint pain but are not associated with irritation of the stomach or esophagus.
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What is the prognosis for Paget's disease?

The outlook is generally good, particularly if treatment is given before major changes in the affected bones have occurred. Paget's diseas

occurs most frequently in the spine, skull, pelvis, thighs, and lower legs. In general, symptoms progress slowly. Paget's disease is not

a cancer, and the disease does not spread to normal bones. Treatment can control Paget's disease and lessen symptoms, but treatment

does not cure Paget's disease.

Who discovered Paget's disease?

Paget's disease is named after the English surgeon Sir James Paget, who described the condition in 1877. Paget also discovered the wo

that causestrichinosis and described what is calledPaget's disease of the breast. Together with Rudolph Virchow in Germany, Paget was

one of the founders of pathology.

Introduction

Background

Gardner syndrome, a variant offamilial adenomatous polyposis (FAP),1is an autosomal dominant disease characterized by GI polyps,

multiple osteomas, and skin and soft tissue tumors. Cutaneous findings2of Gardner syndrome include epidermoid cysts, desmoid tumors

and other benign tumors. Polyps have a 100% risk of undergoing malignant transformation; consequently, early identification of Gardner

syndrome is critical.3

Pathophysiology

Gardner syndrome is genetically linked to band 5q21, the adenomatous polyposis coli locus.

4

FAP and Gardner syndrome are believed tobe variants of the same condition. The wider spectrum of abnormalities found in Gardner syndrome may represent variable penetrance o

common genetic mutation.

Frequency

United States

One person per million population is diagnosed with Gardner syndrome. The incidence of FAP is 1 case per 8000 people. The most

common cutaneous finding in patients with Gardner syndrome is epidermoid cysts (50-65%).

Mortality/Morbidity

Unless surgical transection is performed, GI polyps may progress to malignancy in almost 100% of Gardner syndrome patients (rates va

from 58-100% in studies).

Age

Although colonic polyps begin to form in puberty, the average age at Gardner syndrome diagnosis is 22 years. Osteoma formation prece

polyposis. Usually, progression to malignancy is observed in patients aged 30-50 years. The average age by which malignancy is

diagnosed is 39.2 years.

Clinical

History

Many skin findings of Gardner syndrome are evident on full body examination; however, the patient's history of the age at onset and

whether lesions are present in family members is important.

Cysts in Gardner syndrome patients are usually asymptomatic, but they may be pruritic and/or inflamed.

More than half the patients with Gardner syndrome have dental anomalies.5Previously undiagnosed Gardner syndrome may be detected

when the patient is evaluated for multiple impacted and unerupted teeth.

Physical

A full body skin examination for skin tumors and epidermal inclusion cysts is necessary in Gardner syndrome.

Several factors differentiate cutaneous cysts associated with Gardner syndrome from ordinary cysts. Epidermoid cysts of Gardner syndro

occur at an earlier age (around puberty) than ordinary cysts and in less common locations, such as the face, the scalp, and the extremitie
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Gardner syndrome cysts tend to be multiple and are present in the multiple form in 50-65% of patients. Similar to ordinary epidermal

inclusion cysts, cysts in Gardner syndrome are usually asymptomatic; however, they may be pruritic and/or inflamed, and they may ruptu

Other skin signs in Gardner syndrome include the following:

Fibromas

Lipomas

Leiomyomas

Neurofibromas

Pigmented skin lesions

Noncutaneous features of Gardner syndrome include the following:

Desmoid tumors occur as swelling in the anterior abdominal wall and are often preceded by surgical trauma. The incidence of

desmoid tumors in FAP is 8.9%.

Osteomas are required to make the diagnosis of Gardner syndrome. The mandible is the most common location. They may be

widespread in the jaw.6However, osteomas may occur in the skull and the long bones. Osteomas precede clinical and radiologi

evidence of colonic polyposis; therefore, they may be sensitive markers for the disease.

Colonic adenomatous polyps have a 100% risk of transformation to colonic adenocarcinoma.

Multifocal pigmented lesions of the fundus are seen in 80% of patients and may present shortly after birth. These lesions can be

the first marker of disease.

Dental abnormalities (eg, unerupted teeth, supernumerary teeth) may occur.

Other associated neoplasms in Gardner syndrome include the following:

Periampullary carcinoma (ampulla of Vater; reported in 12% of patients with FAP, usually after colectomy)

CNS tumors, such as medulloblastoma, glioblastoma, and craniopharyngioma (found in FAP subgroup in Turcot syndrome)

Thyroid carcinoma (especially in female patients)

Osteosarcoma

Chondrosarcoma

Hepatoblastoma

Liposarcoma

Causes

The cause of Gardner syndrome is genetic, with autosomal dominant inheritance.

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What is Paget