Tuesday, August 07, 2007
Scleroderma is a rare but serious disease
Rheumatologists see a lot of rare illnesses that can affect anyone. One of them is scleroderma.
Scleroderma, also known as systemic sclerosis, is a chronic disease that causes skin thickening and tightening, and can involve fibrosis and other types of damage to internal body organs. This condition, thought to be an autoimmune disease, affects both adults and children, most commonly adult women. While effective treatments are available for some manifestations of the disease, scleroderma is not yet curable.
Here are some facts about the disease, according to the rhematology.org:
WHAT IS SCLERODERMA?
There are actually several types of scleroderma and related diseases with complications ranging from minor to life-threatening. Therefore, the terminology describing the various forms of scleroderma can be confusing.
The two broad categories are:
-- “Localized scleroderma” which indicates distinct skin lesions
-- "Systemic sclerosis" (scleroderma) which indicates more uniform skin involvement and the potential for internal organ disease.
Systemic scleroderma is divided into two sub-sets: a) “limited” cutaneous systemic sclerosis (scleroderma) in which skin involvement is limited to forearms, hands, legs, feet, and face. Usually associated with CREST syndrome (Calcinosis cutis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia); and b) “diffuse” cutaneous systemic sclerosis (scleroderma), which can affect the skin over almost any body area.
CAUSES
The cause of scleroderma is not yet proven. Genetic factors appear to predispose patients to the disease, but whether scleroderma is the result of some combination of genetic factors and other exposures is unknown. For instance, some data suggests that exposure to industrial solvents or an environmental agent may play a role in predisposing to scleroderma.
IMPACT
Scleroderma is a relatively rare illness affecting only 75,000 – 100,000 people in the United States. Of these, 75% percent are women usually diagnosed between the ages of 30 and 50 years.
DIAGNOSIS
A scleroderma diagnosis is based primarily on a combination of a person's description of symptoms (history) and physical examination findings. Laboratory tests and x-rays may help in evaluating a patient with suspected scleroderma or find that someone actually has another disease, but no one test makes the diagnosis certain. For instance, blood tests for autoantibodies are often used in making the diagnosis, but the presence or absence of these antibodies is not, in and of itself, conclusive.
TREATMENT
Unfortunately, while some things have proven effective in treating the disorder, scleroderma is not yet curable. Much research has gone into addressing the various manifestations of the disease, but no drug has been found that can stop or reverse the skin thickening, which is the hallmark of disease.
For Raynauds, we use Calcium channel blockers and other agents that can dilate blood vessels; For heart burn we use “proton pump inhibitors” – like prilosec.
Kidney involvement can occur and cause significant hypertension. “ACE inhibitors” – like vasotec are used to manage these symptoms.
Finally Lung involvement can be very serious in patients with Scleroderma, and involve the arteries or the parenchyma of the lung. There are some available treatments for management of lung involvement.
The bottom line is scleroderma is a rare but can have a significant impact on a person’s life. Much research is ongoing into new treatments for scleroderma. Patients and their families should know that experts remain optimistic and work towards a cure will continue.
Sandeep Varma, MD, is a rheumatologist and Medical Director at the Backus Arthritis Center, located at the Backus Outpatient Care Center in Norwich. This column should not replace advice or instruction from your personal physician. E-mail Varma and all of the Healthy Living columnists at healthyliving@wwbh.org
Scleroderma, also known as systemic sclerosis, is a chronic disease that causes skin thickening and tightening, and can involve fibrosis and other types of damage to internal body organs. This condition, thought to be an autoimmune disease, affects both adults and children, most commonly adult women. While effective treatments are available for some manifestations of the disease, scleroderma is not yet curable.
Here are some facts about the disease, according to the rhematology.org:
WHAT IS SCLERODERMA?
There are actually several types of scleroderma and related diseases with complications ranging from minor to life-threatening. Therefore, the terminology describing the various forms of scleroderma can be confusing.
The two broad categories are:
-- “Localized scleroderma” which indicates distinct skin lesions
-- "Systemic sclerosis" (scleroderma) which indicates more uniform skin involvement and the potential for internal organ disease.
Systemic scleroderma is divided into two sub-sets: a) “limited” cutaneous systemic sclerosis (scleroderma) in which skin involvement is limited to forearms, hands, legs, feet, and face. Usually associated with CREST syndrome (Calcinosis cutis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia); and b) “diffuse” cutaneous systemic sclerosis (scleroderma), which can affect the skin over almost any body area.
CAUSES
The cause of scleroderma is not yet proven. Genetic factors appear to predispose patients to the disease, but whether scleroderma is the result of some combination of genetic factors and other exposures is unknown. For instance, some data suggests that exposure to industrial solvents or an environmental agent may play a role in predisposing to scleroderma.
IMPACT
Scleroderma is a relatively rare illness affecting only 75,000 – 100,000 people in the United States. Of these, 75% percent are women usually diagnosed between the ages of 30 and 50 years.
DIAGNOSIS
A scleroderma diagnosis is based primarily on a combination of a person's description of symptoms (history) and physical examination findings. Laboratory tests and x-rays may help in evaluating a patient with suspected scleroderma or find that someone actually has another disease, but no one test makes the diagnosis certain. For instance, blood tests for autoantibodies are often used in making the diagnosis, but the presence or absence of these antibodies is not, in and of itself, conclusive.
TREATMENT
Unfortunately, while some things have proven effective in treating the disorder, scleroderma is not yet curable. Much research has gone into addressing the various manifestations of the disease, but no drug has been found that can stop or reverse the skin thickening, which is the hallmark of disease.
For Raynauds, we use Calcium channel blockers and other agents that can dilate blood vessels; For heart burn we use “proton pump inhibitors” – like prilosec.
Kidney involvement can occur and cause significant hypertension. “ACE inhibitors” – like vasotec are used to manage these symptoms.
Finally Lung involvement can be very serious in patients with Scleroderma, and involve the arteries or the parenchyma of the lung. There are some available treatments for management of lung involvement.
The bottom line is scleroderma is a rare but can have a significant impact on a person’s life. Much research is ongoing into new treatments for scleroderma. Patients and their families should know that experts remain optimistic and work towards a cure will continue.
Sandeep Varma, MD, is a rheumatologist and Medical Director at the Backus Arthritis Center, located at the Backus Outpatient Care Center in Norwich. This column should not replace advice or instruction from your personal physician. E-mail Varma and all of the Healthy Living columnists at healthyliving@wwbh.org
# posted by ----------------- @ 2:18 PM 
