View Full Version : Scleroderma???

06-10-2009, 09:49 AM
Hello! I was on this site last year because my sister recieved a positive ANA after seeing a doctor for fatique and severe joint pains in her toe, foot and wrist. At a recent follow up with a rhematologist he ran more detailed blood work and it came back with a positive SCL-70 antibody, so he diagnosed her with Scleroderma. From there she went to a cardiologist, gastronologist and pulmonologist (echo on hear was normal), but the spirometry test done by the pulmonologist found that she had a 64% dclo and 74% total lung capacity, which suggested she already has mild lung involvement or mild restrictive lung disease. She was a smoker and laid the cigs down the day she found out about this. Could the smoking have caused the lung tests to be off??? And she has GERD disease (acid reflux) and inflammation in the stomach.

We have an appt at the Scleroderma unit at John Hopkins on June 22nd. But in the meantime, can anyone with Scleroderma give some insight and prognosis. She is only 30 years old and is in the midst of trying to get pregnant...her rhematologist told her that he didn't see any reason why she couldn't get pregant, but I am reading a lot of contridction online. Also, she really doesn't seem to have the symptoms of scleroderma...her skin looks fine, she doesn't seem to have Raynaulds (fingers and toes don't turn colors).

My next concern is that my husband has Chron's, his uncler has rhematoid arthritis, my sister has now been diagnosed with Scleroderma, my aunt had autoimmune hepatitis...with all these autoimmune diseases on BOTH sides...are my children at a greatly increased risk of developing an autoimmune disease? They are 3 and 18 months and this scares me to death!
Any insight would be much appreciated and God Bless each and everyone of you that deals with autoimmune diseases.

06-12-2009, 08:59 PM
Like Lupus, the symptoms of scleroderma vary greatly from individual to individual, and the effects of scleroderma can range from very mild to life-threatening. The seriousness will depend on what parts of the body are affected and the extent to which they are affected. A mild case can become more serious if not properly treated. Prompt and proper diagnosis and treatment can minimize the symptoms of scleroderma and lessen the chance for irreversible damage.
At the present time, there is no cure for scleroderma, but there are many treatments available. Some are directed at particular symptoms like heartburn, which can be controlled by medications called proton pump inhibitors or medicine to improve the motion of the bowel. Some treatments are directed at decreasing the activity of the immune system. Some people with mild disease may not need medication at all and occasionally people can go off treatment when their scleroderma is no longer active. Because there is so much variation from one person to another, there is great variation in the treatments prescribed.

Autoimmune connective tissue diseases are chronic, potentially life threatening complex multisystem disorders. Their etiology is unknown, but genetic, hormonal and environmental factors are important. The clinical disease is preceded by a long period of time (sometimes many years) when the patients can be identified by characteristic antibodies in their blood. When such a patient is identified, he/she is usually followed and treated if the clinical disease manifests itself.
However, other factors besides the existence of autoantibodies have a predictive value for those disorders; some of them hereditary or genetic, and can be used ONLY to predict the possible likelihood of future disease. Other factors connected to lifestyle and environment, could be modified in order to try and prevent the development of the disease. Scientists believe autoimmune diseases are caused by a genetic predisposition activated by some environmental exposure (infection, drugs, trauma, stress).
Scientists say that immune disorders, which range from common diseases such as juvenile diabetes or lupus to some so unusual that many doctors have never heard of them, are among the most mysterious of ailments, genetically complex and so diverse that estimating their true prevalence is a guessing game. But with major advances in genetics and exponential growth of knowledge about the immune system, scientists say important discoveries are within reach. Immune system disorders often cluster in families and within an individual, once you have one, you have others.
Some people carry an hereditary gene factor to a specific disease itself, like Psoriasis or diabetes. Therefore not all Autoimmune diseases are hereditary. The genes predisposing an individual to an auto-immune disease are a part of a persons genetic make-up and always will be.

I hope that I was able to clarify these issue for you. Please let me know if you need anything further!

Peace and Blessings