A new diagnosis of scleroderma doesn't have to be overwhelming, even though the disease itself is complex. Diagnosing scleroderma is easiest when a person has typical symptoms and rapid skin thickening. In other cases, a diagnosis may take several months as the disease unfolds and reveals itself, thereby enabling the doctor to rule out other potential causes. In some cases, a diagnosis is never made, because the symptoms that prompted the visit to the doctor go away on their own.
A scleroderma diagnosis is based largely on a thorough evaluation of your medical history, symptoms and findings from the physical exam. Your doctor may also order several lab tests to support the diagnostic process. Depending on your particular symptoms, the diagnosis may be made by a general internist, a dermatologist, an orthopaedist, a respirologist or a rheumatologist.
Lab tests commonly confirm the presence of specific antibodies in scleroderma patients. Antitopoisomerase-1 (Anti-Scl-70) antibodies appear in up to 30 percent of people with diffuse systemic sclerosis, while anticentromere antibodies are found in the blood of many people with limited systemic sclerosis. Several other scleroderma specific antibodies also exist, although they are less common. When present, these other antibodies are helpful in clinical diagnostics and may provide additional information about specific organ damage risks. Because not all people with scleroderma have these antibodies and because not all people with the antibodies have scleroderma, lab test results alone cannot confirm a scleroderma diagnosis. A variety of other diagnostic tools are available and may be requested by your doctor.
Some patients present with some, but not all, of the symptoms related to scleroderma. Diagnostic tests are useful in confirming or ruling out a scleroderma diagnosis. These patients may fit into one of the following disease groups:
Undifferentiated Connective Tissue Disease (UCTD): UCTD is a term for patients who have some signs and symptoms of various related diseases, but not enough symptoms of any one particular disease to make a definitive diagnosis. In these patients the condition hasn’t differentiated into a particular connective tissue disease. Over time, UCTD typically follows three distinct paths: spontaneous improvement, continued undifferentiated symptoms, or progression into a systemic disease such as systemic sclerosis, systemic lupus erythematosus, or rheumatoid arthritis.
Overlap Syndrome: a disease combination in which patients have symptoms and lab findings characteristic of two or more conditions.
SIGNS AND SYMPTOMS
Scleroderma is a complex disease with many possible symptoms that can affect various parts of the body. It is highly individualized so symptoms and severity differ greatly, ranging from mild to potentially 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 by qualified physicians may minimize the symptoms of scleroderma and lessen the chance for irreversible damage.
Due to the highly individualized nature of the disease, symptom management plays a pivotal role in scleroderma treatment. Treatments are specific to the organ or organ systems involved and include both medical and non-medical approaches.
The ‘Scleroderma Patient Education Booklet’ developed by the director of the Johns Hopkins Scleroderma Centre - Dr. Fredrick Wigley - and behavioural psychologist Dr. Haythornthwaite, is an excellent resource and provides a thorough review of the causes, symptoms and treatment for many symptoms associated with scleroderma. An overview of symptom management is provided below, with links to the relevant chapters of the ‘Scleroderma Education Booklet’ where applicable.
9/10 Canadians experience extreme sensitivity to cold, which causes the blood vessels in fingers and toes to constrict which leads to reversible digital discolouration.
2/10 Canadians experience high blood pressure and excess protein in the urine can be signs of renal crisis which may quickly lead to kidney failure.
9/10 Canadians experience gradual thickening and tightening of the skin on face, hands, arms, and sometimes the whole body.
8/10 Canadians experience fibrosis and scarring in the lungs and weakened respiratory muscles which leads to shortness of breath and persistent coughing.
8-9/10 Canadians experience stiff, sore, swollen joints, severe fatigue, muscle weakening, and pain.
The heart muscle can become thickened and scarred, and may result in fluid retention, palpitations, shortness of breath, and in some cases, heart failure. 2/10 Canadians experiencing common heart symptoms.
6-8/10 Canadians experience common symptoms which include swallowing difficulties, poor absorption of nutrients, constipation, diarrhea, incontinence, and gastroesophageal reflux disease.
8-9/10 Canadians experience dry eyes and mouth due to decrease in secretions from the tear ducts and salivary glands.
Having a chronic disease can affect almost every aspect of life, from family relationships to holding a job. For people with scleroderma, there may be other concerns about appearance or even the ability to dress, bathe, or handle the most basic daily tasks. Here are some areas in which scleroderma could intrude:
Appearance & Self Esteem: Aside from the initial concerns about health and longevity, people with scleroderma can become concerned with how the disease will affect their appearance. Thick, hardened skin can be difficult to accept, particularly when present on the face. Systemic scleroderma may result in facial changes that eventually cause the opening to the mouth to become smaller and the upper lip to virtually disappear. Linear scleroderma may leave its mark on the forehead. Although these problems can’t always be prevented, their effects may be minimized with proper treatment. Also, special cosmetics and plastic surgery can help conceal scleroderma’s damage.
Personal Care: Tight, hard connective tissue in the hands can make it difficult to do what were once simple tasks, such as brushing teeth and hair, pouring a cup of coffee, using a knife and fork, unlocking a door, or buttoning a jacket. Occupational therapists can recommend new ways of doing things or devices to make tasks easier. Simple tricks such as using velcro fasteners and enlarged brush handles can help immensely with maintaining independence.
Family Relationships: Spouses, children, parents and siblings may have trouble understanding the change in energy experienced by someone with scleroderma. This is particularly true when the condition does not present with obvious physical manifestations. The opposite may also occur, with people becoming overly involved and concerned, leading to a loss of independence. The best strategy is to learn as much as possible about the disease and to share all that information with family and friends. Involving them in counselling or a support groups may also help them better understand the disease and how they can assist.
Sexual Relations: Sexual relationships can also be affected. For men, the disease’s effects on the blood vessels can lead to problems achieving an erection. For women, damage to the moisture-producing glands can cause vaginal dryness that makes intercourse painful. People of either sex may find they have difficulty moving the way they once did. They may be self-conscious about their appearance or afraid that their sexual partner will no longer find them attractive. With communication between partners, good medical care, and perhaps counselling, many of these changes can be overcome.
Pregnancy & Childbearing: In the past, women with systemic scleroderma were often advised not to have children. But thanks to improvements in medical treatments and a better understanding of the disease itself, that advice is changing. Pregnancy, for example, is not likely to be a problem for women with localized scleroderma. Although blood vessel involvement in the placenta may cause babies of women with systemic scleroderma to be born early, many women with the disease can have safe pregnancies and healthy babies if they follow some precautions. One of the most important pieces of advice is to wait a few years after the disease starts before attempting a pregnancy. People living with scleroderma are at the highest risk of developing severe problems of the heart, lungs, or kidneys during the first three years. Chances of developing major organ complications decrease after those initial three years, and pregnancies are typically safer after that period. Nevertheless, it is important to have the disease and the pregnancy monitored regularly. Finding an obstetrician who is experienced in guiding high-risk pregnancies will be critical.