Scleroderma - Understanding the disease

 Scleroderma is a relatively rare disease that is also known as systemic sclerosis. The disease itself involves hardening and tightening of the skin as well as problems in the blood vessels, internal organs and digestive tract. It is often categorized as either “limited” or “diffuse” which refers to the degree of skin involvement. Both types, however, can involve the vascular and digestive system. Localized scleroderma, also known as morphea, affects only the skin. There is no cure for scleroderma currently and treatments are aimed at slowing the progression of the disease and improving quality of life.

While signs and symptoms will vary from patient to patient most everyone will experience skin related symptoms. Just a few months prior to my father’s passing in 2018, he had been referred to a rheumatologist for what we thought was rheumatoid arthritis. He had trouble moving his fingers and hands. The skin around his joints was thick and his hands constantly itched. The skin around his knuckles actually looked shiny because the skin was so tight. Other patients experience small red spots on their hands and face. Calcium deposits form under the skin, particularly at the fingertips causing bumps that can be seen on X rays. While we never suspected scleroderma in my father, because, it is more common in females; my father’s rheumatologist did suspect the diagnosis.  Other symptoms of scleroderma include raynaud’s phenomenon, where the blood vessels in the fingers or toes in response to cold or emotional distress become numb, turn blue or become painful. Digestive problems can occur as well such as heartburn, difficulty swallowing, bloating, diarrhea, constipation and fecal incontinence. When scleroderma affects the heart or lungs, patients experience shortness of breath, dizziness, fluid retention in the legs and feet, and irregular heartbeat.  My father didn’t experience all of these symptoms but he had developed an irregular heart beat in the recent months prior to his suspect diagnosis.

Scleroderma results from the overproduction and accumulation of collagen in body tissues. Collagen is a fibrous protein that makes up your body’s connective tissues, including your skin. While the exact cause of the overproduction is unknown, many specialists believe that the body’s immune system plays a role as well as environmental triggers and genetics. Research does suggest that scleroderma symptoms may be triggered by exposure to certain viruses or medications. Repeated exposure to harmful substances or chemicals can increase the risk of developing scleroderma, but more research is needed to pinpoint the specifics. Obviously my father’s life work was working day to day with chemicals as a pharmacist. While we may never know what specific chemical or medication that he was exposed to led to his suspicious diagnosis, we do know that just months prior to the diagnosis he had shingles, which is a viral infection.

Complications of scleroderma range from mild to severe and can affect everything from the fingertips and joints to the heart, lungs and kidneys. Severe tightening of facial skin can cause your mouth to become smaller and narrower which makes oral hygiene difficult. Usually saliva production is blunted, so the risk of tooth decay increases. With the lack of adequate saliva production comes difficulty in swallowing. Other digestive issues as discussed above are heartburn, diarrhea, and constipation. Those problems lead to the guts inability to properly absorb nutrients, so many patients may become deficient in vitamins and minerals.

Diagnosing scleroderma can be tricky because it can take many different forms and affect so many different areas of the body. Your healthcare provider will order blood tests to check for elevated levels of certain antibodies produced by the immune system. Other blood tests or imaging can be done to determine if the digestive tract, heart, lungs or kidneys are involved. My father’s specialist ordered several rounds of blood testing that revealed elevated antibodies which led to the suspect diagnosis in early November prior to my father’s passing in February.  This is the part of the story that gets hard to tell because it was all so unexpected to us and probably many of you if you are going through a new diagnosis or treatment.

The treatment for scleroderma usually involves suppressing the immune system, much like the treatment that occurs after an organ transplant. Medications are given either orally or by injection to suppress the body’s immune system. The unintended consequence of this treatment is lowered immunity and increased susceptibility to infection. Your body suddenly becomes a sponge for infection and what would have been a routine cold can turn deadly in a matter of a few days. This is what ultimately happened to my father in February of 2018. The specialist started my father on immune suppressing oral therapy that was broad acting. That means that this treatment affected his entire immune system rather than targeting a specific part of the immune system that causes scleroderma. Most of this had, unfortunately, been due to insurance restrictions. Better therapy IS available and was available then, but neither my father, nor his specialist was able to convince the insurance company to pay for that treatment. While my father could have opted to pay out of pocket for the more expensive treatment, he did not and he started taking the older (tried, but not so true) oral therapy. It is hard for me to talk or write about this experience without a flood of emotions because as a pharmacist, I know that better therapy is available to all of us. Unfortunately, we all seem to be at the mercy of insurance companies and their “rules’ despite what the doctor orders.

The silver lining in all this hard conversation is that you can change the future. That new science, that new technology is available. It costs an arm and a leg and my father’s life, but it is out there. Do NOT let the insurance company bully you or your provider into settling for something inferior. YOU deserve the best treatment available.  As always my door at Payless Family Pharmacy is open to discuss these therapies as is Beth’s at Sparta Drug Center. We want what is best for you and your family. We are just a phone call away!