Paget's Disease Paper Example

Introduction

Paget's disease is a bone disorder resulting in a weaker, fracture susceptible bone that is weaker than ordinary and which is more porous than normal and hence cause of deformities. Though the actual ethnological factor is not yet known, genetics, certain infections and environmental factors that are considered to contribute to the spread of the disease. Genetics for an instant is thought to play a major role in its spread, with up to 30% first-degree relatives of patients being positively identified to carry the disease. This scenario is majorly due to the contribution of a mutation gene. On the other hand, it is thought that infections such as measles and other viruses contribute to the disease due to the composition of the proteins. Other theories blame the spread of the disease to environmental factors such as having contact with domesticated animals such as dogs and cattle. However, preliminary research has so far yielded no positive and conclusive results towards this disease (Albgha, 2016).

Is your time best spent reading someone else’s essay? Get a 100% original essay FROM A CERTIFIED WRITER!

Order now

How it's Diagnosed, Lab Findings Necessary for Diagnosis, Similar Diseases Bloodwork or Radiology and Necessary Clinical Tools for Proper Diagnosis.

Unlike many diseases, Paget's disease presents no initial symptoms or very little if at all, that such that patients might mistake it for something else altogether. For this reason, X-Rays are commonly used in the diagnosis. The measurement of serum alkaline phosphates (SAP) in the blood also give an early indication especially when high or present in abnormal levels in the patients' blood. Scans of an individual's bones are usually used to determine the degree and impact of the disease in an affected area. Other cases require biopsies to be conducted when the disease is suspected, especially when identification through X-ray is not clear or conclusive enough to confirm its presence or absence. Apart from the above, Urine tests may be done to monitor the progression of the disease in individuals confirmed to have it.

Significant Signs and Common Symptoms, Similar Diseases.

As mentioned before, the disease presents no initial symptoms, making it hard for diagnosis to be made early. Typically, doctors would not recommend treatment unless the symptoms are confirmed due to the likelihood of misdiagnosing the onset of the disease with other similar diseases. This is especially true in the case of Paget disease of the breast, which is so rare that it is mostly misdiagnosed as eczema or a malignancy. The reason for this situation is the scaly rash typically present in the nipple at the initial stages, making it easy to confuse it for a dermatological condition. However, unlike eczema, the disease causes firmness of the underlying tissue, retraction of the nipple and a bloody discharge in progressed cases. Also unlike malignant melanoma, which does not bleed or itch, Paget lessons have a scaly appearance, which helps in its identification.

In the case of Paget disease of the bones, symptoms slightly differ from the above. Those include joint pains when the affected bone is connected to a joint. The bone would normally fracture easily or have deformities such as an enlarged head or reduced height. Due to pressure on the nerves of the affected area, one might feel numb as opposed to pain in such places, which might also feel warmer than the surrounding areas. When the disease affects the skull, the patient may experience headaches and loss of hearing due to the pressure to nerves (Albgha, 2016).

Compare How to Rule Out Differences With Diseases Similar to It

Paget's disease of the breast is most commonly misdiagnosed with other diseases such as malignant melanoma due to its similarities. However, there exist some differences between them. While Paget cells are located above keratins, melanoma cells affect every layer of the epidermis. Paget cells are usually not present in the dermis while melanoma cells will be found a present. Also, Paget cells usually have a ductal formation while melanoma will have a pagetoid spread (Lee et al. 2014)

The Genetic Component to the Disease and Inheritance Likelihood

Though the exact cause of the disease is unknown, genetics is thought to have a significant role in its development. Research shows that the inheritance of the disease is high, up to 30% among affected individuals. The implication is that autosomal mutation plays a role in its spread and development, such as protein mutations in the gene TNFRSF11B which is responsible for the coding of osteoprotegerin. As such, people who have family members with a history of the disease are themselves more predisposed to the disease than the general populace (Albgha, 2016).

Common Treatment Methods in the Medical Community and Prognosis after Treatment.

Treatment for Paget disease is by managing and remedying the various complications associated with the disease. Bone complication such as osteoporosis can be treated using drugs and oral bisphosphonates such as Pamidronate and Zoledronic acid, even though they have severe side effects sometimes. Surgery could also be used to manage the disease for example re-alignment of deformed bones, healing bones that have fractured and to help ease pressure on affected nerves. However, since the disease causes an abnormally large amount of blood vessels in the affected areas, the risk of excessive blood loss is increased and thus only recommended after first exhausting alternative treatment means.

Lifestyle remedies can also be used to check the progress of the disease. These include remedies such as healthy eating habit and diet rich in calcium and vitamin D and other supplements, which have been proved to improve the condition. Regular exercises and generally remaining active physically could also help improve joint mobility and strength of the bones. Exercise should, however, be done under the guidance of a doctor to avoid placing too much pressure on the affected areas and thus worsening the condition. Other modest lifestyle remedies such as taking care to avoid bone fractures such as using a cane and avoiding slippery surfaces are also recommended to assist the patients to manage their condition (Lee et al. 2014).

In the case of Paget disease of the breast, treatment can be done using breast-conserving surgery. This includes the removal of part of the affected tissues to avoid further complication from the disease progression. Reconstructive surgery may be necessary after such procedures. In other severe cases, however, mastectomy is used as a standard treatment especially when there is a trace of progression to cancer. This method has been used since the mid-20th century and is still a promising treatment for the disease (Albgha, 2016).

Though Paget's disease is a long-lasting disease found to affect many of the old population, the disease is manageable, and with the right care, patients can lead satisfying lives.

References

Lee, J. H., Kim, T. H., Kim, S.-C., Kim, Y. C., & Roh, M. R. (2014). Pigmented Mammary Paget Disease Misdiagnosed as Malignant Melanoma. Annals of Dermatology, 26(6), 747-750. http://doi.org/10.5021/ad.2014.26.6.747

Albagha, O. M., & Ralston, S. H. (2016). Genetics of Paget's disease of bone. In Advances in Pathobiology and Management of Paget's Disease of Bone (pp. 25-36).