Scleroderma

November 2011 Scleroderma My interest in Scleroderma is based upon personal experience and my own need to be further educated. I first heard of the disease when my older sister Meredith “Duffy” became afflicted with it. She contracted it after her treatment of Acute Myeloid Leukemia (AML). The treatment of AML and the stem cell transplant she received caused her to have GVHD (Graft Versus Host Disease). GVHD is a complication that can occur after a transplant in which the newly transplanted stem cells attack the transplant recipient’s body.

This reaction to the stem cell transplant GVHD suppresses your immune system which can make you susceptible to other illnesses and diseases. Scleroderma found its way into her system like a harmful parasite. What is Scleroderma? Who gets it? What are the different types? Is it manageable and treatable? Scleroderma is a connective tissue disease that involves changes in the skin, blood vessels, muscles, and internal organs. It is a type of autoimmune disorder, a condition that occurs when the immune system mistakenly attacks and destroys healthy body tissue.

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The cause of scleroderma is unknown. People with this condition have a buildup of a substance called collagen in the skin and other organs. Collagen that is buildup and not normally broken down causes the accumulation of collagen called fibrosis. In SSc, excess collagen causes fibrosis in the heart, lungs, and the muscles that line the GI tract . The collagen causes fibroblasts within the collagen to overactive causing scar tissue damage, decreased flexibility, and malfunction of the organ involved.

This buildup leads to the symptoms of the disease and it can cause organ failure if collagen made in excesses interferes with normal organ function (“Scleroderma: Crest syndrome;” 2011). Scleroderma ESSAY Scleroderma is not contagious; it is not infectious; it is not cancerous or malignant. There are an estimated 300,000 people in the United States who have scleroderma, and one third of whom have the systemic form of scleroderma. Since scleroderma presents with symptoms similar to other autoimmune diseases, diagnosis is difficult and there may be many misdiagnosed or undiagnosed cases as well (“Scleroderma: Overview and,” 2011).

The disease usually affects people 30 to 50 years old. Women get scleroderma more often than men do. Some people with scleroderma have a history of being around silica dust and polyvinyl chloride, but most do not. Widespread scleroderma can occur with other autoimmune diseases. (“Scleroderma: Crest syndrome;” 2011). For this reason, my sister and her Doctors’ believe it was GVHD that exposed her to Scleroderma. There are two main forms of Scleroderma: systemic (systemic sclerosis, SSc) which affects the internal organs or internal systems of the body as well as the skin.

The other form is localized that affects a local area of skin either in patches or in a line down an arm or leg, or as a line down the forehead. Rarely will localized systemic sclerosis turn into systemic or SSc (“Scleroderma: Overview and,” 2011). Scleroderma Systemic Sclerosis (SSc) is further broken down into two categories: limited cutaneous SSc and diffuse cutaneous SSc. The difference between the two is the degree of skin involvement. In limited SSc, skin thickening only involves the hands and forearms, lower legs and feet.

In diffuse cutaneous, the hands forearms, the upper arms, thighs, or trunk is affected. The face can be affected in both types. The importance and significance in making the distinction between the two is the extent of skin involvement also reflects the degree of internal organ involvement (“Scleroderma: Overview and,” 2011). My sister has been diagnosed with limited cutaneous SSc. It affects only her skin right now. There is no internal organ involvement as far as she has been told. Scleroderma Localized Scleroderma Local area of the skin) Systemic Sclerosis SSc (Skin and internal organs) Limited Cutaneous (Face, hands and forearms, lower legs and feet) Diffuse Cutaneous (Face, hands, forearms, upper arms, thighs, or trunk) The side effects of this disease can have a major impact on all areas of the patient’s life. I read a PubMed article that concluded pain and fatigue are significant determinants of physical functioning for patients with limited and diffuse disease subtypes (Sandusky, McGuire, Smith, Wigley & Haythornthwaite, 2009).

In a separate study, pain and body image distress are common among women with SSC. This study concluded that pain is an important indicator of sexual function amount women with SSc (Knafo, Haythornthwaite, Wigley & Thombs, 2011). The last study I reviewed said that SSC has a major impact on productivity at home and work. Nearly 40% patients of patients in the study reported disability due to their SSc (Singh, Clements, Furst, Maranian & Khanna, 2011). There is no known specific treatment of the disease.

Doctors can prescribe a cocktail of different drugs to try to alleviate symptoms and prevent complications. For my sister’s treatment of this incurable disease, she has seen a series of medical professionals ranging from Oncologists, Rheumatologists, and Dermatologists. She even saw a Holistic professional to see if changing her diet would change some symptoms that she gets after eating certain types of food. She is constantly seeking help for the symptoms that have left her with tight skin, swelling in her hands and feet, unsightly red ulcers on her skin, constant pain, and immobility.

She has tried many treatments: ECP, Rituxan infusions, PUVA, Gleevec, Tasigna, Sirolimus, and Prograf and she has gotten real relief from any of these. Currently, she is on Cellcept and back taking Minocycline along with getting monthly cytoxan (chemo) infusions. My sister stays positive and hopeful that these new treatments will kick in soon. The most recent grant to further Scleroderma research was awarded November 2, 2011 to Boston University School of Medicine (BUSM) researcher Dr. Robert Lafyatis National Institutes of Health. The $11. million grant would further fund research into the rare disease. This grant will be broken into two separate studies designed to help new early stage clinical trials for potential therapies for the disease. The other part is designed to spur the creation of a national resource for scientists studying scleroderma across the country. The challenges and obstacles that await the researchers are finding cures for the disease that present patients with a variety of different symptoms and various levels of severity (Donnelly, 2011). References Donnelly, J. (2011).

Bu researcher wins $11m in nih grants to study scleroderma. .Boston Business Journal, R e t r i e v e d f r o m h t t p : / / w w w . b i z j o u r n a l s . c o m / b o s t o n / n e w s / 2 0 1 1 / 1 1 / 02 / b u – r e s e a r c h e r – w i n s – 1 1 m – i n – n i h grants. html Knafo, R. , Haythornthwaite, J. , Wigley, F. , & Thombs, B. (2011). The association of body image dissatisfaction and pain with reduced sexual function in women with systemic sclerosis. Rheumatology, 5 0 ( 6 ) , 1 1 2 5 – 3 0 . R e t r i e v e d f r o m h t t p : / / w w w. n c b i . n l m . n i h . o v / p u b m e d / 2 1 2 7 8 0 7 1 Sandusky, S. , McGuire, L. , Smith, M. , Wigley, F. , & Haythornthwaite, J. (2009). Fatigue: An overlooked d e t e r m i n a n t o f p h y s i c a l f u n c t i o n i n s c l e r o d e r m a . R h e u m a t o l o gy , 4 8 ( 2 ) , 1 6 5 – 9 . R e t r i e v e d f r o m http://www. ncbi. nlm. nih. gov/pubmed/19106163 S c l e r o d e r m a : C r e s t s y n d r o m e ; l i m i t e d s c l e r o d e r m a ; p r o g r e s s i v e s y s t e m i c s c l e r o s i s ; sy s t e m i c s c l e r o s i s ; localized scleroderma; mixed connective disease; Morphea – linear. 2011, February 14). Retrieved from h t t p : / / w w w . n c b i . n l m . n i h . go v / p u b m e d h e a l t h / P M H 0 0 0 1 4 6 5 / S c l e r o d e r m a : O v e r v i e w a n d c a u s e s . ( 2 0 1 1 , N o v e m b e r 4 ) . R e t r i e v e d f r o m http://www. scleroderma. org Singh, M. , Clements, P. , Furst, D. , Maranian, P. , & Khanna, D. (2011). Work productivity in sclerodermaanalysis from the UCLA scleroderma quality of life study. Arthritis Care Res, doi: 10. 1002/acr. 20676