June is National Scleroderma Awareness Month
More than 300,000 Americans live with some type of scleroderma. Today, the face of scleroderma includes people of all ages, genders, and backgrounds. Scleroderma can affect young parents, children, grandparents, and teenagers.
It is a complex, little-known, and often poorly-understood condition that affects different people in different ways.
What is Scleroderma?
Scleroderma, or systemic sclerosis, is a chronic connective tissue disease generally classified as one of the autoimmune rheumatic diseases. The word “scleroderma” comes from two Greek words: “sclero” meaning hard, and “derma” meaning skin. Hardening of the skin is one of the most visible manifestations of the disease.
Scleroderma is an autoimmune connective tissue and rheumatic disease that causes inflammation in the skin and other areas of the body. When an immune response tricks tissues into thinking they are injured, it causes inflammation, and the body makes too much collagen, leading to scleroderma. Too much collagen in your skin and other tissues causes patches of tight, hard skin. Scleroderma involves many systems in your body. The following definitions can help you better understand how the disease affects each of those systems.
- A connective tissue disease is one that affects tissues such as skin, tendons, and cartilage. Connective tissue supports, protects, and provides structure to other tissues and organs.
- Autoimmune diseases happen when the immune system, which normally helps protect the body from infection and disease, attacks its own tissues.
- Rheumatic disease refers to a group of conditions characterized by inflammation or pain in the muscles, joints, or fibrous tissue.
Two Types of Scleroderma
- Localized scleroderma affects the skin and underlying tissues and generally appears in one or both of these patterns:
- Morphea, or patches of scleroderma that may be a half-inch or larger in diameter.
- Linear scleroderma, when the scleroderma thickening occurs in a line. This usually extends down an arm or leg, but sometimes runs down the forehead and face.
- Systemic scleroderma, sometimes called systemic sclerosis, affects your skin, tissues, blood vessels, and major organs. Doctors usually divide systemic scleroderma into two types:
- Limited cutaneous scleroderma, which comes on gradually and affects the skin on your fingers, hands, face, lower arms, and legs below the knees.
- Diffuse cutaneous scleroderma, which comes on more rapidly and starts as being limited to the fingers and toes, but then extends beyond the elbows and knees to the upper arms, trunk, and thighs. This type usually has more internal organ damage.
There is no cure for scleroderma. The goal of treatment is to relieve symptoms and stop the progression of the disease. Early diagnosis and ongoing monitoring are important.
What causes Scleroderma?
The cause of scleroderma is unknown. However, researchers think that the immune system overreacts and causes inflammation and injury to the cells that line blood vessels. This triggers connective tissue cells, especially a cell type called fibroblasts, to make too much collagen and other proteins. The fibroblasts live longer than normal, causing a buildup of collagen in the skin and other organs, leading to the signs and symptoms of scleroderma.
Researchers do not know the exact cause of scleroderma, but they suspect that several factors may contribute to the disease:
Genetic makeup
Genes can increase the chance for certain people to develop scleroderma and play a role in determining the type of scleroderma they have. You cannot inherit the disease, and it is not passed from parent to child like some genetic diseases. However, first-degree relatives of people with scleroderma are at higher risk of developing scleroderma than the general population.
Environment
Researchers suspect that exposure to some environmental factors, such as viruses or chemicals, may trigger scleroderma.
Immune system changes
Abnormal immune or inflammatory activity in your body triggers cell changes that cause the production of too much collagen.
Hormones
Women develop most types of scleroderma more often than men. Researchers suspect that hormonal differences between women and men might play a part in the disease.
Who gets Scleroderma?
Anyone can get scleroderma; however, some groups have a higher risk of developing the disease. The following factors may affect your risk.
- Sex. Scleroderma is more common in women than in men.
- Age. The disease usually appears between the ages of 30 and 50 and is more common in adults than children.
- Race. Scleroderma can affect people of all races and ethnic groups, but the disease can affect African Americans more severely. For example:
- The disease is more common in African Americans than European Americans.
- African Americans with scleroderma develop the disease earlier when compared with other groups.
- African Americans are more likely to have more skin involvement and lung disease when compared with other groups.
Scleroderma Symptoms
The symptoms of scleroderma vary from person to person depending on the type of scleroderma you have.
The following three symptoms may indicate scleroderma, so if you recognize all of these, it is important to book an appointment with your GP:
- Sore or swollen fingers
- Raynaud’s phenomenon; a condition where fingers and toes change color with temperature changes, stress, or anxiety
- Reflux or heartburn
Localized scleroderma typically causes patches of thick, hard skin in one of two patterns.
- Morphea causes patches of skin to thicken into firm, oval-shaped areas. These areas may have a yellow, waxy appearance surrounded by a reddish or bruise-like edge. The patches may stay in one area or spread to other areas of skin. The disease usually becomes inactive after over time, but you may still have darkened patches of skin. Some people also develop fatigue (feeling tired).
- Linear scleroderma causes lines of thickened or different colored skin to run down your arm, leg, and, rarely, on the forehead.
Systemic scleroderma, also known as systemic sclerosis, may come on quickly or gradually and may also cause problems with your internal organs in addition to the skin. Many people with this type of scleroderma have fatigue.
- Limited cutaneous scleroderma comes on gradually and usually affects skin on your fingers, hands, face, lower arms, and legs below the knees. It can also cause problems with your blood vessels and esophagus. The limited form has internal organ involvement, but it is generally milder than in the diffuse form. People with limited cutaneous scleroderma often have all or some of the symptoms that some doctors call CREST, which stands for the following symptoms:
- Calcinosis, the formation of calcium deposits in the connective tissues, which can be detected by x-ray.
- Raynaud’s phenomenon, a condition in which the small blood vessels of the hands or feet contract in response to cold or anxiety, causing color changes in fingers and toes (white, blue, and/or red).
- Esophageal dysfunction, which refers to the impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement.
- Sclerodactyly, which is thick and tight skin on the fingers, results from deposits of excess collagen within skin layers.
- Telangiectasia, a condition caused by the swelling of tiny blood vessels, in which small red spots appear on the hands and face.
- Diffuse cutaneous scleroderma comes on suddenly, usually with skin thickening on your fingers or toes. The skin thickening then spreads to the rest of your body above the elbows and/or knees. This type can damage your internal organs, such as:
- Anywhere along your digestive system.
- Your lungs.
- Your kidneys.
- Your heart.
Although CREST historically refers to the limited scleroderma, people with the diffuse form of scleroderma can also have CREST features.
Diagnosis
A diagnosis of scleroderma doesn’t have to be overwhelming, even though the disease is complex. An experienced rheumatologist who specializes in scleroderma is key to a quick and proper diagnosis that leads to treatment that may help minimize symptoms and decrease the chance of irreversible damage.
If your signs and symptoms suggest that you have scleroderma, you’ll need to take some tests to confirm your diagnosis and narrow down the exact type of scleroderma you have. These test results show what autoantibodies you have in your blood. Autoantibodies are proteins made by your immune system that can attack your own healthy tissues by mistake.
Tests help you learn your potential disease prognosis, or long-term outlook, and your risk for specific scleroderma complications. You may only need to have these tests once at your first evaluation.
You’ll need other tests at regular clinic visits. These tests help you and your physician monitor your disease activity or the levels of inflammation and autoantibodies in your body. Tests can also track your disease progression or any damage to your tissues and organs that need to be addressed with treatment.
Your test schedule is based on your individual clinical needs and disease type. No two people living with scleroderma are exactly alike, so you may or may not need all of these tests.
There are six categories of tests:
- ANA: Antinuclear Antibody Assay
- Nailfold Capillary Test
- Skin Tests: Modified Rodnan Skin Score
- Pulmonary (Lung) Function Tests
- Pulmonary Arterial Hypertension (PAH) Tests
- Upper GI Testing
Treatment
Your treatment depends on the type of scleroderma you have, your symptoms, and which tissues and organs are affected. Treatment can help control the symptoms and limit the damage.
Your doctor may recommend medications, including:
- Anti-inflammatory medications to manage pain and reduce swelling.
- Corticosteroid topical creams to treat skin changes, including tightness and itching.
- Corticosteroids are given by mouth, injection, or intravenous (IV) infusion to help manage joint pain or inflammation. Because they are potent medications, your doctor will prescribe the lowest dose possible to achieve the desired benefit and to avoid side effects.
- Immunosuppressants, which may suppress the overactive immune system and can help control symptoms of the disease. Your doctor may prescribe oral, IV, or topical immunosuppressants.
- Vasodilators to help blood vessels dilate (widen), which may prevent lung and kidney damage and treat Raynaud’s phenomenon.
In addition, your doctor may prescribe medications that are typically approved to treat other rheumatic diseases that have similar symptoms to scleroderma.
Many people benefit from physical or occupational therapy to relieve pain, improve muscle strength and mobility, including muscles in your arms, legs, and jaw, and teach you techniques to help with activities of daily living. For example, if hand pain and stiffness make it hard to brush your teeth, a therapist can recommend toothbrushes and devices to make flossing easier.
Regular dental care is important because scleroderma can make your mouth dry and damage connective tissues in your mouth, speeding up tooth decay and causing your teeth to become loose. Tightening facial skin can also make your mouth opening smaller and narrower, which makes it harder to care for your teeth.
Who treats Scleroderma?
Most people will see a rheumatologist for scleroderma treatment. A rheumatologist is a doctor who specializes in rheumatic diseases such as arthritis and other inflammatory or autoimmune disorders. Dermatologists, who specialize in conditions of the skin, hair, and nails, play an important role in treating the disease, particularly for people with localized scleroderma.
Because scleroderma can affect many different organs and organ systems, you may have several different doctors providing your care. These health care providers may include:
- Cardiologists, who specialize in treating diseases of the heart and blood vessels.
- Dental providers, who can treat complications from the thickening of tissues of the mouth and face.
- Gastroenterologists, who treat digestive problems.
- Mental health professionals, who provide counseling and treat mental health disorders such as depression and anxiety.
- Nephrologists, who treat kidney disease.
- Occupational therapists, who teach how to safely perform activities of daily living.
- Orthopaedists, who treat and perform surgery for bone and joint diseases or injuries.
- Primary care providers, including physicians, nurse practitioners, and physician assistants.
- Physical therapists, who teach ways to build muscle strength.
- Pulmonologists, who treat lung disease and problems.
- Speech-language pathologists, who specialize in the treatment of speech and communication disorders.
Living with Scleroderma
Depending on the type of scleroderma you have and your symptoms, living with the disease may be hard. To help, try to take an active part in treating your scleroderma. The following tips and suggestions may help.
- Keep warm. Your body regulates its temperature through the skin. So, dress in layers, wear gloves and socks and avoid cold rooms and weather when possible.
- Try to avoid cold or wet environments that may trigger Raynaud’s phenomenon symptoms.
- If you smoke, quit. Nicotine and smoking cause blood vessels to contract, which can make some symptoms worse and cause lung problems.
- Apply sunscreen before you go outdoors to protect against further damage from the sun’s rays.
- Use moisturizers on your skin to help lessen stiffness.
- Use humidifiers to moisten the air in your home in colder winter climates. Clean humidifiers often to stop bacteria from growing in the water.
- Avoid hot baths and showers, as hot water dries the skin.
- Avoid harsh soaps, household cleaners, and caustic chemicals. Wear rubber gloves if you use such products.
- Exercise regularly. Exercise, especially swimming, stimulates blood circulation to affected areas.
- Visit the dentist regularly for check-ups.
- Reach out to online and community support groups.
- Keep the lines of communication open. Talk to your family and friends to help them understand the disease.
- Talk to a mental health professional for help with coping with a chronic illness.
Some types of scleroderma can affect parts of the digestive system. Doctors may prescribe heartburn, constipation, and motility medications to help manage these symptoms. Here are some tips to help if you have digestive symptoms:
- Eat small, frequent meals.
- After meals, stay upright for 3 hours. Try to avoid reclining or slouching.
- Eat moist, soft foods, and chew them well. If you have difficulty swallowing or if your body doesn’t absorb nutrients properly, your doctor may prescribe a special diet.
- Drink less alcohol and caffeine.
- Stay hydrated.
- When it is time to sleep, raise the head of your bed with blocks. Using several pillows is not as helpful as raising the head of the bed by using blocks or special wedges.
For more information on scleroderma and related conditions, click or download this easy-to-read publication from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).
Sources:
https://www.niams.nih.gov/health-topics/scleroderma
https://www.sruk.co.uk/knowscleroderma/
https://scleroderma.org/diagnoses-tests/