For Some Patients, Scleroderma Runs Deep

The term ‘scleroderma’ comes from the Greek words for ‘hard skin’,” says M. E. Csuka, MD, Associate Professor of Medicine at the Medical College of Wisconsin. “Its most obvious manifestation is thickening and hardening of the skin, and that’s how we usually make the diagnosis.” Although it’s the most obvious sign of scleroderma, skin hardening is by no means the most dangerous symptom of this baffling disease.

Patients who have this thickened, hard skin experience decreases in physical functioning and limits in the activities of daily living. But for the most part this skin problem is not what causes them their most serious morbidity and mortality,” says Dr. Csuka. In fact the disease can run much deeper and cause life-threatening problems in the lungs, heart, esophagus, gastrointestinal tract and kidneys.

According to the Scleroderma Foundation, an estimated 300,000 people in the United States have the disease. Women are about four times more likely than men to develop scleroderma, which is considered both a rheumatic disease and a connective tissue disease. Rheumatic diseases are characterized by inflammation and pain in the muscles, joints or fibrous tissue. A connective tissue disease affects the major substances in the skin, tendons and bones.

Scleroderma is also classified as an autoimmune disease, meaning that it causes the body’s immune system to attack its own tissues. While little is known about the causes of scleroderma, it is known that it targets connective tissue with an overproduction of the fiber-like protein collagen.

A Highly Individualized Condition
It’s a very interesting condition in that, unlike rheumatoid arthritis and lupus (other autoimmune rheumatic diseases), scleroderma can have such a broad spectrum of symptoms,” said Dr. Csuka. “When patients come in with rheumatoid arthritis, we can give them a much better idea as to what’s going to happen. For patients with scleroderma, each one is their own case study.”

People with scleroderma might experience a few or many of its potential symptoms, including:

• thickening of the skin
• swelling of the hands and feet
• stiffness and pain of the joints
• gastrointestinal tract and digestive system problems
• impairment of lung, heart and kidney function
• facial, dental and oral problems
• non-specific symptoms such as generalized weakness, aches, fatigue and weight loss

Because scleroderma is so individualized and can affect patients in so many different ways, it is extremely difficult to diagnose early and with accuracy. “One of the problems is that, when patients go to web sites for information, there are so many different manifestations of scleroderma that they can sometimes get lost in the shuffle worrying about things that have nothing to do with them,” said Dr. Csuka.

“If a person is unlucky enough to have the pulmonary disease, then we can talk about that condition,” she said. “But when somebody first sits in my clinic and has only had the disease for a year, we don’t really have a good indicator yet to predict which path they’re going to take.”

Categories and Types
Scleroderma can fall into one of two categories – localized or systemic. Localized types of scleroderma are limited to the skin and related tissues and, in some cases, the muscle below. Internal organs are not affected, and localized scleroderma rarely, if ever, progresses to the systemic form of the disease. Localized conditions might improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent.

Systemic scleroderma is the term for the disease that not only includes the skin, but also involves the tissues beneath to the blood vessels and major organs. Dr. Csuka said that there are two main types of systemic scleroderma, the “limited cutaneous” type and the “diffuse cutaneous” type. “That’s the way physicians who evaluate and study scleroderma like to divide patients when they first see them,” she said. “The ‘limited’ types are people who have skin thickening below their elbows and below their knees and maybe just on their face. The people we classify as having the diffuse type have involvement above the elbow or on the chest or abdomen.

“The important difference for a physician in separating those two types is that patients who have diffuse skin disease, by and large, are the ones that are more susceptible to serious internal organ involvement such as the lung disease or the kidneys shutting down.”

Practitioners Hold out Hope
Exact causes of scleroderma have not been pinpointed, Dr. Csuka said, although certain genetic factors and exposure to some chemicals have been identified as possible factors in developing the disease. Several new and existing drugs are now being tested for safety and effectiveness in treating scleroderma.

“We have advantages in some specific areas at Froedtert & Medical College because we can draw on the expertise of renowned faculty in the Pulmonary and Gastroenterology Clinics. Access to knowledgeable consultants to help manage the pulmonary and gastrointestinal complications of this disease is a great benefit for our patients. In addition, Froedtert & Medical College has recently opened a Pulmonary Hypertension Clinic – pulmonary hypertension is one of the known complications of systemic sclerosis for which there is now effective therapy, said Dr. Csuka.

In addition, Dr. Csuka notes that scleroderma research has been given a strong push forward by the creation of a Scleroderma Clinical Trials Consortium made up of experts from around the country.

“With scleroderma in general we’re still looking for a drug that we can use to reliably reverse the condition early on so we can prevent the disabling effects,” said Dr. Csuka. “What gets the press are always the most dramatic cases. What doesn’t get a lot of press are the stories of people with scleroderma who just go on about their business. Their lives go on and they learn to deal with the disabilities.”

“I just saw a woman who hasn’t been able to play the piano for 14 years because of scleroderma,” said Dr. Csuka. “But she’s survived the scleroderma as well as breast cancer. She enjoys watching her grandchildren grow. The scleroderma is a problem, yet her life is still moving forward and she hasn’t developed any significant internal organ involvement. So even though it’s frustrating that there is no treatment yet, I hold out a great deal of hope. Each patient I meet with this condition is a profile in courage and determination.”

Dan Ullrich
HealthLink Contributing Writer

This article includes information from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (www.niams.nih.gov) and the Scleroderma Foundation (www.scleroderma.org).

MCW Health News presents up-to-date information on patient care and medical research by the physicians of the Medical College of Wisconsin.