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« on: February 02, 2007, 05:36:17 pm »

Systemic Sclerosis  (Scleroderma)

Systemic sclerosis is a chronic disease of unknown cause characterized by diffuse fibrosis, degenerative changes, and vascular abnormalities in the skin, joints, and internal organs (especially the esophagus, lower GI tract, lung, heart, and kidney).
 Systemic Sclerosis of the Hand  Systemic Sclerosis of the Chest and Shoulders

Common symptoms include Raynaud's phenomenon, polyarthralgia, dysphagia, heartburn, and swelling and eventually skin tightening and contractures of the fingers. Lung, heart, and kidney involvement accounts for most deaths. Diagnosis is clinical, but laboratory tests help. Specific treatment is difficult, and emphasis is often on treatment of complications.

Systemic sclerosis (SSc) is about 4 times more common in women than men. It is most common in the 3rd to 5th decades of life and is rare in children. SSc can develop as part of mixed connective tissue disease.


~Etiology and Pathophysiology

Immunologic mechanisms and heredity (certain HLA subtypes) play a role in etiology. SSc-like syndromes can result from exposure to vinyl chloride, bleomycin, pentazocine, epoxy and aromatic hydrocarbons, contaminated rapeseed oil, or l-tryptophan.

Pathophysiology involves vascular damage and activation of fibroblasts; collagen and other extracellular proteins in various tissues are overproduced.

In SSc, the skin develops more compact collagen fibers in the reticular dermis, epidermal thinning, loss of rete pegs, and atrophy of dermal appendages. T lymphocytes may accumulate, and extensive fibrosis in the dermal and subcutaneous layers develops. In the nail folds, capillary loops dilate and some microvascular loops are lost. In the extremities, chronic inflammation and fibrosis of the synovial membrane and surfaces and periarticular soft tissues occur.

Esophageal motility becomes impaired, and the lower esophageal sphincter becomes incompetent; gastroesophageal reflux and secondary strictures can develop. The intestinal muscularis mucosa degenerates, leading to pseudodiverticula in the colon and ileum. Interstitial and peribronchial fibrosis or intimal hyperplasia of small pulmonary arteries can develop; if long-standing, pulmonary hypertension can result. Diffuse myocardial fibrosis or cardiac conduction abnormalities occur. Intimal hyperplasia of interlobular and arcuate arteries can develop within the kidneys, causing renal ischemia and hypertension.

SSc varies in severity and progression, ranging from generalized skin thickening with rapidly progressive and often fatal visceral involvement (SSc with diffuse scleroderma) to isolated skin involvement (often just the fingers and face) and slow progression (often several decades) before serious visceral disease. The latter form is termed limited cutaneous scleroderma or CREST syndrome (Calcinosis cutis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly, Telangiectasias). In addition, SSc can overlap with other connective tissue disorders—eg, sclerodermatomyositis (tight skin and muscle weakness indistinguishable from polymyositis) and mixed connective tissue disease.

~Symptoms and Signs

The most common initial symptoms and signs are Raynaud's phenomenon and insidious swelling of the distal extremities with gradual thickening of the skin of the fingers. Polyarthralgia is also prominent. GI disturbances (eg, heartburn, dysphagia) or respiratory complaints (eg, dyspnea) are occasionally the first manifestations.

Swelling of the skin is usually symmetric and progresses to induration. It may be confined to the fingers (sclerodactyly) and hands, or it may affect most or all of the body. The skin eventually becomes taut, shiny, and hypo- or hyperpigmented; the face becomes masklike; and telangiectases may appear on the fingers, chest, face, lips, and tongue. Subcutaneous calcifications may develop, usually on the fingertips (pulps) and over bony eminences. Trophic ulcers are common, especially on the fingertips, overlying the finger joints, or over calcinotic nodules. Abnormal capillary and microvascular loops in the nails can be seen with an ophthalmoscope or dissecting microscope.


 
Polyarthralgias or mild arthritis can be prominent. Flexion contractures may develop in the fingers, wrists, and elbows. Friction rubs may develop over the joints, tendon sheaths, and large bursae.

Esophageal dysfunction is the most frequent visceral disturbance and occurs in most patients. Dysphagia (usually retrosternal) usually develops first. Later, acid reflux can cause heartburn and stricture. Barrett's esophagus occurs in 1⁄3 of patients and predisposes to complications (eg, stricture, adenocarcinoma). Hypomotility of the small bowel produces anaerobic bacterial overgrowth that can lead to malabsorption. Air may penetrate the damaged bowel wall and be visible on x‑rays (pneumatosis intestinalis). Leakage of bowel contents into the peritoneal cavity can produce peritonitis. Distinctive wide-mouthed diverticula can develop in the colon. Biliary cirrhosis may develop in patients with CREST syndrome.

Lung involvement generally progresses indolently, with substantial individual variability, but is a common cause of death. Lung fibrosis can impair gas exchange, leading to exertional dyspnea and restrictive disease with eventual respiratory failure. Acute alveolitis (potentially responsive to therapy) can develop. Esophageal dysfunction can lead to aspiration pneumonia. Pulmonary hypertension may develop, as can heart failure, both of which are poor prognostic findings. Pericarditis with effusion or pleurisy can occur. Cardiac arrhythmias are common.

Severe, often sudden renal disease (renal crisis) may occur, most commonly in the first 4 to 5 yr and in patients with diffuse scleroderma. It is usually heralded by sudden, severe hypertension.

~Diagnosis

SSc should be considered in patients with Raynaud's phenomenon, typical musculoskeletal or skin manifestations, or unexplained dysphagia, malabsorption, pulmonary fibrosis, pulmonary hypertension, cardiomyopathies, or conduction disturbances. Diagnosis can be obvious in patients with combinations of classic manifestations, such as Raynaud's phenomenon, dysphagia, and tight skin. However, in some patients, the diagnosis cannot be made clinically, and confirmatory laboratory tests can increase the probability of disease but do not rule it out.

Serum antinuclear antibodies (ANA) and SCL-70 antibody (topoisomerase I) should be obtained. ANA are present in ≥ 90%, often with an antinucleolar pattern. Antibody to centromeric protein (anticentromere antibody) occurs in the serum of a high proportion of patients with CREST syndrome and is detectable on the ANA. SCL-70 antigen is a DNA-binding protein sensitive to nucleases. Patients with diffuse scleroderma are more likely than those with CREST to have anti-SCL-70 antibodies. Rheumatoid factor also is positive in 33% of patients.

If lung involvement is suspected, pulmonary function testing, chest CT, and echocardiography can begin to define its severity. Acute alveolitis is often detected by high-resolution chest CT.

~Prognosis

The course depends on the type of SSc but is often unpredictable. Typically, progression is slow. Overall 10-yr survival is about 65%. Most patients with diffuse skin disease eventually develop visceral complications, which are the usual causes of death. Prognosis is poor if cardiac, pulmonary, or renal manifestations are present early. Heart failure may be intractable. Ventricular ectopy, even if asymptomatic, increases the risk of sudden death. Acute renal insufficiency, if untreated, progresses rapidly and causes death within months. Patients with CREST syndrome may have disease that is limited and nonprogressive for long periods; visceral changes (eg, pulmonary hypertension caused by vascular disease of the lung, a peculiar form of biliary cirrhosis) eventually develop, but the course is often remarkably benign.

~Treatment

No drug significantly influences the natural history of SSc overall, but various drugs are of value in treating specific symptoms or organ systems. NSAIDs can help arthritis. Corticosteroids may be helpful if there is overt myositis or mixed connective tissue disease. Penicillamine, long used for treatment of skin thickening, has been shown to be ineffective in recent trials.

Various immunosuppressants, including methotrexate, azathioprine, and cyclophosphamide, may help pulmonary alveolitis. Successful lung transplantation has been reported. Epoprostenol (prostacyclin) and bosentan may be helpful for pulmonary hypertension. Ca channel blockers, such as nifedipine 20 mg po tid or as an extended-release formulation, or angiotensin receptor blockers, such as losartan 50 mg po once/day, may help Raynaud's phenomenon. Patients should dress warmly. IV infusions of prostaglandin E1 (alprostadil) or epoprostenol or sympathetic blockers can be used for digital ischemia. Reflux esophagitis is relieved by frequent small feedings, high-dose proton pump inhibitors, and sleeping with the head of the bed elevated. Esophageal strictures may require periodic dilation; gastroesophageal reflux may possibly require gastroplasty. Tetracycline 500 mg po bid or another broad-spectrum antibiotic can suppress overgrowth of intestinal flora and may alleviate malabsorption symptoms. Physiotherapy may help preserve muscle strength but is ineffective in preventing joint contractures. No treatment affects calcinosis.

For acute renal crisis, prompt treatment with an ACE inhibitor can dramatically prolong survival. Blood pressure is usually, but not always, controlled. If end-stage renal disease develops, dialysis and transplantation can be used, although the mortality rate remains high
 

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« Reply #1 on: March 25, 2009, 05:39:22 pm »

http://www.sclerodermaontario.ca/
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« Reply #2 on: August 09, 2009, 01:57:26 am »

The Scleroderma Foundation Applauds Introduction of First Bill in the Senate Promoting Research       


 August 08,2009 

The Scleroderma Foundation applauds Senator Kirsten Gillibrand (D-NY) for introducing S. 1545, the "Scleroderma Research and Awareness Act" in the United States Senate. This important legislation, co-sponsored by Senator Charles Schumer (D-NY), gives hope to the estimated 300,000 Americans and their families living with this devastating disease.


Scleroderma is a chronic and disabling connective tissue disorder resulting from an overproduction of collagen. The word "scleroderma" means hardening of the skin, which is one of the most visible manifestations of the disease. Scleroderma can affect many areas of the body including the heart, lungs, kidneys, and gastrointestinal system. There is no known cause and no cure. The disease disproportionately impacts women and minorities. African Americans are at a higher risk of developing systemic scleroderma, and women account for 80% of all diagnoses. The estimated total economic impact of scleroderma in the United States is $1.5 billion annually. The direct cost of treatment for patients is more than $460 million annually.


  The "Scleroderma Research and Awareness Act" would:
  --  Direct the National Institute of Arthritis and Musculoskeletal and
      Skin Diseases at the National Institutes of Health to expand research
      related to scleroderma. The legislation authorizes $25 million in
      FY10, $30 million in FY11, and $35 million in FY12 for this purpose.
      Priority areas include:
      --  Development and evaluation of new treatments.
      --  Research on the relationship between scleroderma and secondary
          conditions including: pulmonary hypertension, gastroparesis,
          Raynaud's phenomenon, and Sjogren's syndrome.
      --  Establishment of family and "childhood-onset" patient registries.
      --  Support for the training of new investigators.
 
  --  Direct the Centers for Disease Control and Prevention to establish a
      scleroderma public awareness campaign highlighting disease symptoms,
      prevalence, related conditions, and the importance of early diagnosis.
      The legislation authorizes $2.5 million in FY10, FY11, and FY12 for
      the awareness initiative.
 

"The Scleroderma Foundation is proud to be at the forefront of advocating for greater research for this devastating disease," commented Joseph P. Camerino, Ph.D., Chair of the Foundation's National Board of Directors. "With the introduction of this landmark legislation, the scleroderma community has renewed hope that a cure will be found. We are extremely grateful to Senator Gillibrand and Senator Schumer for their leadership on our behalf. We are also grateful for the efforts of many volunteers who comprise the Foundation's Advocacy Committee who have dedicated a great deal of time and energy to champion these efforts."

 
SOURCE~Press Release
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« Reply #3 on: August 22, 2009, 01:14:10 am »

Scleroderma Support Group, Richfield Quality Inn, 4742 Brecksville Road, Richfield, 7 p.m. (6:30 p.m. if you're having dinner) the last Thursday of every month. (866) 849-9030, (216) 251-2888, (330) 533-0552 or sfohio.org.
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« Reply #4 on: September 17, 2009, 12:14:51 pm »

 
 


Online support for scleroderma patients
 September 16, 2009

Le Gendre is hoping that doctors, counsellors, or anyone who can contribute in anyway will come forward to support the efforts of the Foundation. SCF is based at Le Gendre’s home at 18 Opal Drive, El Dorado Gardens.

To participate in SCF support sessions or to contribute your services, call 222-5037 or 756-3930 or log on to www.sclerodermacarefoundation.org.

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« Reply #5 on: September 19, 2009, 02:01:51 pm »

Chichester UK residents who suffer with fibromyalgia invited to meeting

A meeting is being held for people around Chichester, Bognor Regis and Littlehampton who suffer with mysterious aches and pains.
The session is being staged by the recently-expanded Chichester and Bognor Regis Fibromyalgia Support Group.

It is being held at the Chichester Park Hotel, Madgwick Lane, Westhampnett, Chichester, on September 25 at 11am for coffee and/or lunch.

The group, known as the Folly Pogs, is holding the event after a recent shake-up of the Surrey and Sussex FMS Support Group left people without their regular meeting.

Fibromyalgia symptoms include round-the-clock pains, weakness in the muscles and joints, chronic fatigue, sleep disorder, cognitive problems, and more than 22 other conditions.

Victims of this invisible disability are mainly women – perfectionists, workaholics, super mums, and A-type personalities. It is thought stress and trauma are two of the primary triggers to spark fibromyalgia off from an inherited dormant gene.

For more information contact jeannehambleton@mac.com or telephone 0845 345 45942
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« Reply #6 on: September 20, 2009, 03:26:57 pm »

The Scleroderma Foundation 1st Annual 'Fight For Lexi' Golf Tournament at the Dove Canyon Country Club on September 21, 2009 Featuring a Performance by Carlos Mencia
 

 

   
 

 
Golf Tournament to Raise Funds for the Scleroderma Foundation, Southern California Chapter

The 1st Annual "Fight for Lexi" Charity Golf Tournament takes place on Monday, September 21, at the Dove Canyon County Club. Proceeds from the event will benefit the Scleroderma Foundation/ Southern California Chapter.


The event kicks off with a shotgun start at 10:30 a.m., and will be followed by a silent auction and awards dinner. Noted comedian Carlos Mencia will perform a brief comic set at the Awards Dinner at 5:30 p.m.


The event is organized by the Pettit Family whose daughter, Lexi, was diagnosed with a rare autoimmune disease, scleroderma, in 2008 at the age of 15. "I can't begin to tell you what a shock it was to learn that our daughter was diagnosed with this rare and awful disease," commented Lexi's mother, Melinda Pettit. "Scleroderma is rare among the adult population, but even more uncommon among children, so there was a lot of fear and uncertainty for us when we got this diagnosis."


That's when the Pettit family turned to the Scleroderma Foundation, Southern California Chapter, where they were able to learn more about the chronic autoimmune disease that affects approximately 300,000 people in the United States, with nearly 80 percent of those diagnosed being women in their child-bearing years.


"There is no known cause for scleroderma, and there is no cure," Mrs. Pettit continues. "That's why we feel it's so important to do something to support the Scleroderma Foundation, which provides much-need patient education services and is the leading nonprofit organization funding critical research to find a cure."


About Scleroderma

Scleroderma is a chronic, often progressive, autoimmune disease in which one's own immune system attacks its body.


Scleroderma can cause a thickening and tightening of the skin. In the systemic form of the disease, often called systemic sclerosis, scaring (or sclerosis) causes serious damage to the internal organs, including the lungs, heart, kidneys, esophagus and gastrointestinal tract. As scarring of these organs and organ systems progress, they work less effectively and can lead to organ failure and death.


Some medications and treatments can help with certain symptoms, but there is still no cure for the disease, which affects about 300,000 people in the United States. (By way of comparison, approximately the same number of people are affected with multiple sclerosis.)


About the Scleroderma Foundation, Southern California Chapter

The Los Angeles-based Scleroderma Foundation, Southern California Chapter, is part of the national Scleroderma Foundation, which is based in metropolitan Boston, MA. Its mission it so provide peer-to-peer patient support services, educational programs, and raise funds to support the Foundation's research and awareness programs.


For more information about the disease and the Scleroderma Foundation, Southern California Chapter, visit www.scleroderma.org or call (310) 592-1799.


The event will be held at the Dove Canyon Country Club, 22682 Golf Club Drive, Dove Canyon, CA 92679.


To obtain more information about the 1(st) Annual "Fight For Lexi" Golf Tournament, please call the Tournament Office at (310) 592-1799.


For information about the National Scleroderma Foundation visit www.scleroderma.org.
 
 
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« Reply #7 on: September 27, 2009, 01:38:25 pm »

Plymouth,MA


 The sixth annual harvest dance to benefit scleroderma will be held from 8 pm to midnight Saturday, Sept. 26, at the Garibaldi Club, ...
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I look normal, as I have an "Invisible Illness". You can not catch it, you can not see it. It's called Lupus.My body is attacking itself on the inside.
www.LupusMCTD.com Represents:
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« Reply #8 on: October 22, 2009, 08:45:43 am »

Drug may become 1st scleroderma treatment
Published: Oct. 21, 2009


A U.S. study suggests a drug now used to treat two kinds of cancer might become the first treatment for scleroderma -- a chronic connective tissue disease.

Investigators at the Hospital for Special Surgery say the drug Gleevec, currently approved for treatment of chronic myeloid leukemia and gastrointestinal stromal tumor, might be successful in scleroderma therapy.

"There has never been a drug that has been shown to be effective for this condition. I think there is a very good chance of Gleevec becoming a real treatment for a previously untreatable disease," Dr. Robert Spiera, who led the research, said.

In the new study, researchers enrolled 30 patients with a severe form of scleroderma and gave them 400 mg of Gleevec daily.

The investigators -- in an interim analysis of their ongoing study -- saw a 23 percent improvement in skin scores, as well as improvement in forced vital capacity and diffusion capacity scores.

"The lung function data was really exciting," Spiera said. "In patients with scleroderma, you usually see lung function tests getting worse over time, and if doctors try a therapy for a year and a patient doesn't get any worse, we get pretty excited. What is amazing to me in this study is that we actually saw improvements in both lung function tests."

The research was presented this week in Philadelphia during the annual meeting of the American College of Rheumatology.


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