Scleroderma: How is this diagnosis made?

by Dr. Robert Spiera
how to diagnose scleroderma

What is Scleroderma?
Scleroderma is one of the “connective tissue disorders” diagnosed and treated primarily by rheumatologists. In this condition, the interaction between autoimmunity, vascular disease and “fibrosis” results in the clinical features of the disease. Scleroderma is variable in the way it can affect patient’s overall health and quality of life. It can range from being an uncomfortable condition affecting the quality of life but not longevity, to being a very severe life-threatening disorder that can affect internal organ systems. A physician evaluating a patient with scleroderma or with possible scleroderma will often do a variety of screening tests that can help predict whether the condition is likely to affect internal organs.

Types of Scleroderma
A number of subtypes of scleroderma have been recognized.

Localized
In some patients, the disease is “localized” and purely a skin disorder, at times characterized by isolated patches of thickened scarred tight skin, to instances where that skin involvement becomes more widespread, but still does not extend to affect internal organs or cause vascular problems. In those patients the condition is referred to as “morphea” and it is not recognized as having the broader general health implications that are relevant to systemic sclerosis.

Systemic
Within systemic sclerosis, two major forms are recognized, namely “limited” disease and “diffuse” disease. This broad categorization is based on the extent of skin involvement. In patients with limited disease, the skin involvement mostly affects the hands, possibly the forearms, but not extending above the elbows and there generally is sparing of the trunk.  The face may be involved as well. In patients with “diffuse” scleroderma, the process often extends more proximally to the upper arms, thighs, chest wall and trunk.  Patients with diffuse disease seem to be at higher risk for early lung involvement which is generally screened for proactively.  They also seem to be higher risk for kidney involvement which can be catastrophic if left unrecognized, but can be easily screened for by checking simple urine analyses with some frequency, and checking blood pressures regularly (on the order of several times weekly) particularly early in the disease course. Although lung involvement or even kidney involvement can occur in patients with “limited” disease, it is less common as a rapidly progressive problem early in the disease course, although it is important not to overlook these potential complications.

Tests and Diagnosis
Of course, very early in the patient’s disease course it is not always possible to know with certainty whether they ultimately will have “limited” or “diffuse” disease. There are hints, however, from the history, physical examination and laboratory studies that can help us predict when patients are more likely to fall into one category or the other. Patients with limited disease often have a longstanding prior history of Raynaud’s phenomena. Patients with “diffuse” disease can at times present with puffy hands and rather rapid progression at least in the hands and forearms with only a short prior history of Raynaud’s phenomena. In many cases, however, it is impossible to be certain what course the disease will ultimately take. The rheumatologist will often order a panel of laboratory tests including “autoantibodies,” which are markers that can help predict one pattern of disease or another.  Typically, the rheumatologist will order an ANA (antinuclear antibody, an antibody commonly found in many of the autoimmune diseases), as well as an Scl-70 antibody (positive in some patients with diffuse scleroderma), anticentromere antibody (generally felt to be a marker for “limited” scleroderma), and an antibody called RNA polymerase III, which seems to be a marker for diffuse scleroderma, and often predicts patients with more rapidly progressive skin disease, and also possibly higher risk for kidney involvement in whom blood pressures should be monitored with even greater vigilance.

Screening for Organ Involvement
There is no single algorithm as to how patients with established or even suspected scleroderma should be screened for organ involvement.  The most important screening tool is a comprehensive history, which is a discussion between the patient and the physician, as well as a careful physical examination.  Further tests that likely will be ordered will include blood tests and a urine analysis to assess basic parameters of health including whether or not anemia is present, the status of renal function, and usually also muscle blood tests to assess for whether there is any muscle inflammation which can occur in these disorders.  Tests of lung and heart function are often requested, including pulmonary function studies (where a patient breathes into a tube and their lung function is assessed), often a chest x-ray or even high resolution chest CT scan, and usually an echocardiogram which can assess both the heart function, as well as the pressure in the arteries going from the heart to the lung (which helps screen for pulmonary hypertension).  At times various GI tests may be requested depending on the patient’s symptoms. These tests are all done with an eye towards identifying problems when they are at early stage and possibly more easily treatable.

Future of Scleroderma
Physicians have learned a tremendous amount about disease patterns in scleroderma and how to identify potential problems early and address such emerging problems proactively.  Although a specific “cure” for scleroderma is still elusive, there has been tremendous progress in addressing the individual organ system complications, and such progress is facilitated in the treatment of an individual patient by identifying problems early.  Patients with scleroderma face tremendous challenges, but are seeing improvements in their quality of life, and the recognition of disease patterns and understanding of appropriate screening has helped make these improvements possible.

Dr. Robert Spiera, Rheumatologist

Dr. Robert Spiera, Rheumatologist

Dr. Robert Spiera is a rheumatologist and Director of the Vasculitis and Scleroderma Program at Hospital for Special Surgery. He is the principal investigator in several clinical trials and observational studies focusing on scleroderma and vasculitis. 

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The information provided in this blog by HSS and our affiliated physicians is for general informational and educational purposes, and should not be considered medical advice for any individual problem you may have. This information is not a substitute for the professional judgment of a qualified health care provider who is familiar with the unique facts about your condition and medical history. You should always consult your health care provider prior to starting any new treatment, or terminating or changing any ongoing treatment. Every post on this blog is the opinion of the author and may not reflect the official position of HSS. Please contact us if we can be helpful in answering any questions or to arrange for a visit or consult.

Comments

James "Tony" Elder says:

My mother passed away from the complications of systemic scleroderma. Later my brother was dignosed with localized Scleroderma in his feet. Now we are finding out that my cousin has systemic scleraderma and another family member has localized. Now my question is, When my mother was dignosed with this we was told it was NOT genetic. However, with all these cases in my family alone i fell that it has to be. I”m currently trying to get my doctor to test me for this as i have had some of the same things as the family members with localized Scleraderma have had. He was reluctent to test me for this as he found on the internet that it is not a disease that can be inherited. I have sinced moved from where i was and am currently looking for a new doctor. Like i said i fell i need to be tested for this even if its just cautionary. What i need to know is it or is it not possible to pass this condition down from one generation to the next? Thank you for your time and have a good day.

James “Tony” Elder

Sharsheen says:

Hi James, a good physician will not tell you that it isn”t hereditary due to they don”t know everything about this disease yet. I have a friend who paternal grandmother and father who both died from scleroderma and she has it. So it seems in her case it maybe hereditary, also I read somewhere before that women who had male children were more likely to get scleroderma. So you see theres a lot of theories of what causes and if its hereditary and none have been confirmed 100% (or else they”ll be closer to a cure or least can tell you what to avoid). So theres absolutely nothing wrong with be cautionary/concerned about you getting this horrible disease cause the earlier you catch it and start treatment the better off you”ll be keep trying to find a doctor that”ll test you and don”t take no for a answer. Good luck in finding that right physician and may God bless you and your love ones who suffer from scleroderma.

HSS on the Move says:

Hi James—thank you for your question. Dr. Spiera says: “Autoimmune disease can cluster in families. Scleroderma itself does not seem to have a very strong genetic component, and most patients with scleroderma do not have first degree family members with scleroderma. Nevertheless, there are some families where clustering of autoimmune diseases is more apparent, and in this setting vigilance regarding signs and symptoms of these conditions is important. That being said, ‘testing’ for scleroderma should NOT mean just doing a blood test- the disease is defined clinically, and the best ‘test’ is a good history and physical examination, and then if this leads to a suspicion of clinical disease, blood tests can help confirm the diagnosis.”

Nicola says:

I was diagnosed with diffuse systemic sclerosis 15 years ago…… thank you for devoting your medical expertise to trying to understand and discover a cure for this life changing / destroying condition :)

Barbara says:

When I was pregnant with my precious daughter in the 1960”s my Dr. Carl sent me for x-rays when I was 8 months pregnant..He also thought I was gaining weight too fast so he sold me diet pills from his office and not a pharmacy. I was three weeks late according to his calculations and she was born at a weight of 5# 13 oz. He was a General Practioner and I wonder to this day if the x-rays & diet pills contributed to her Scleroderma & Raynauds. I have been beating myself up ever since for not going to a better doctor for my pregnancy , but I trusted him. She also lived near a trash dump off of Richmond Road and had well water to drink and cook with. I also wondered if all the contaminates in the water has anything to do with her getting Scleroderma . Do any of the Scleroderma patients have similar stories. We need to find a cure for this disease….now…Too many people are SUFFERING from this disease.

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