About 300,000 people in the United States, most of them women, suffer a chronic connective tissue disease called systemic sclerosis, or scleroderma. It’s difficult to get an exact count, because scleroderma is not easy to diagnose. The typical, and namesake, symptom is hardening and tightening of the skin and connective tissue, or internal organs, but not everyone with systematic sclerosis will experience this. In cold weather or with heightened emotions, constriction of the blood vessels can cause pateints to experience pain in the extremities, and muscle problems in the digestive tract can lead to gastrointestinal reflux.
Recent research suggests the scarring and stiffening is the result of an out-of-control immune response in which a protein called fibronectin ordinarily present only in very small amounts and involved in the damage repair process, is released in large quantities. When this happens, it triggers excessive collagen production. It’s not entirely clear why this protein should be produced in excess, but certain environmental factors, including welding fumes, solvents, and dry-cleaning chemicals, may be related. American Indians of the Choctaw nation are prone to the condition only if they live in Oklahoma, but why it stops at the state line is not understood.
There is currently no permanent treatment for scleroderma. Physical and occupational therapy are used to help patients with pain and mobility. Medical treatments include drugs to suppress the immune system, to address the autoimmune aspect of the disease, and blood pressure medication to alleviate pain and muscle stiffness. The best approach, experts say, is lifestyle: staying warm and keeping active will go a long way towards reducing the effects of scleroderma.
Nonetheless, because treatments for scleroderma are limited in effectiveness ad duration, scientists are looking for a cure. Blocking the action of fibronectin is one approach that is being investigated. Another is to block the biochemical signaling pathway—a sort of chemical relay used by cells and organs to convey information and instructions in the body—that is responsible for the inflammation and thickening. Though many such pathways are involved in scleroderma, scientists now believe that they have found the pathway that controls all the others.