10 Facts About Scleroderma

Kristine Cruz-Munda is a scleroderma patient who shares her story living with this autoimmune skin condition. Video courtesy of CBS LA.

According to the Scleroderma Foundation, scleroderma is a chronic connective tissue disease, and is generally classified as a rheumatic autoimmune disease. In patients with scleroderma, the body over-produces collagen, reacting as if there were an injury needing repair. This over-production of collagen prevents various organs in the body from functioning normally.

While this condition is poorly understood, there is some information about the disease that we do know. Read on to learn 10 facts about scleroderma.

1. Scleroderma is more common than you think

It’s estimated that 300,000 Americans live with scleroderma. Of these 300,000 patients, approximately 1/3 live with the systemic form of the disease. However, it’s possible that the number of scleroderma patients is actually much higher, since diagnosing this skin condition can be difficult, as the disorder bears a lot of similarities to other autoimmune diseases, such as polymyositis.

2. Localized scleroderma is the first main type

The two main types of scleroderma are localized and systemic. With localized scleroderma, symptoms such as skin thickening and collagen overproduction are limited to a few places on the skin or muscles, and internal organs are usually not affected. In general, localized scleroderma is relatively mild and rarely develops into systemic scleroderma.

Morphea and linear scleroderma are two sub-classifications of this form of the disease, which appear as patches or streaks on the skin, respectively.

3. Systemic scleroderma is the second main type

In contrast to localized scleroderma, systemic scleroderma affects the connective tissue in many parts of the body, including the skin, esophagus, gastrointestinal tract (stomach and bowels), lungs, kidneys, heart, and other internal organs. It can even impact blood vessels, muscles, and joints. These tissues become hard and fibrous, which decreases their function.

There are two sub-classifications of systemic scleroderma – diffuse and limited. Diffuse scleroderma results in a rapid skin thickening across a larger portion of the skin. Patients with this form of the disease have more internal organ involvement as well. Conversely, limited scleroderma occurs when the skin thickening is less widespread, and is usually confined to the fingers, hands and face. It tends to develop slowly over time.

4. Limited scleroderma is also called CREST syndrome

Limited scleroderma is sometimes referred to as CREST syndrome, an acronym which stands for the different symptoms this condition causes:

  • Calcinosis – an accumulation of calcium deposits under the skin, which may cause pain
  • Raynaud’s – a phenomenon in which small arteries that supply blood to the skin constrict excessively in response to cold, limiting blood supply to one’s fingers and toes and changing their color
  • Esophageal dysfunction – a stiffening of the gastrointestinal tract muscles, resulting in reflux and indigestion
  • Sclerodactyly – the hardening of the skin on one’s fingers and/or toes
  • Telangiectasias – round, red spots on the skin’s surface as a result of widened small blood vessels

5. Scleroderma can affect one’s lungs

Pulmonary symptoms can occur in patients with systemic scleroderma. For example, patients may develop pulmonary hypertension, a condition in which the lung’s blood vessels narrow, which results in impaired blood flow in the lungs. This, in turn, causes shortness of breath.

6. Your gender, age, ethnicity and genetics may play a role

Scleroderma affects women up to three to four times more frequently than their male counterparts. According to the Mayo Clinic, the condition most commonly occurs between the ages of 30 and 50, although children can also develop the disease. One’s ethnic background may also influence the risk of developing the disease, the age of onset, and the severity of one’s symptoms. Although it’s believed that genetics play a role in the development of scleroderma, genetic factors are thought to only predispose a person to the disease, rather than cause it.

7. Other autoimmune issues may co-occur

Since scleroderma is an autoimmune disease, it may occur in conjunction with other autoimmune issues. According to the Mayo Clinic, between 15-20% of scleroderma patients have another autoimmune disease, such as rheumatoid arthritis, lupus or Sjogren’s syndrome. This is why it’s important for patients to get evaluated for other potential co-morbidities as well.

8. There is no cure, but treatments do exist

While there is no known cure for scleroderma, treatment options do exist to help patients manage their symptoms and to prevent further complications of the disease. For example, your doctor may prescribe steroids to help you cope with skin symptoms. Blood pressure medications may also be used to treat Raynaud’s phenomenon. Anti-acids and antibiotics can help reduce digestive issues and prevent infections. Immunosuppressants may be prescribed to reduce overactivity of your immune system and to decrease damaging inflammation. And finally, pain medications may also be used to decrease pain if over-the-counter pain medications aren’t effective enough.

9. Surgery may be necessary

In extreme cases, surgery may be required for certain scleroderma patients. For example, patients with severe Raynaud’s phenomenon in their fingers or toes may have tissues that die off or develop painful sores; consequently, amputation of these tissues may be required. Also, in patients with heavy lung involvement, a lung transplant may be necessary to help the patient breathe.

10. Scleroderma support groups are here to help

The Scleroderma Foundation offers numerous local chapters and support groups, designed to help patients connect with others living with the disease. These support groups provide a forum to share feelings, concerns, information with others, and act as a place to offer peer support and encouragement. To find your local support group in the US, visit the scleroderma chapter locator.

Do you or someone you love suffer from scleroderma? What has been your experience living with the disease? Let us know in the comments below!

The Link Between Congenital Heart Block and Autoimmune Disease

Congenital Heart Block (CHB) is a rare but serious condition that occurs more frequently in newborns born to mothers with autoimmune disease. Image courtesy of Insider.com.

What is Congenital Heart Block?

According to the National Organization for Rare Disease, Congenital Heart Block, or CHB for short, is the interference of the transfer of electric nerve impulses that regulate the pumping of the heart muscle.

As long as electrical impulses are transmitted normally between the heart’s chambers – the atria and the ventricles – the heart contracts normally, allowing for blood to be pumped throughout the body. If the transmission of the signal is impeded, the blocked electrical transmission is known as heart block, or atrioventricular (AV) block.

Though heart block can happen to anyone of any age, it is called congenital heart block if it occurs in a fetus or newborn up to 28 days old.

Why Does CHB Occur in Children Born to Women with Autoimmune Disease?

Autoimmune-associated CHB has been found in a variety of maternal autoimmune disorders, including Sjogren’s syndrome, systemic lupus erythematosus, rheumatoid arthritis, antiphospholipid syndrome (APS), mixed connective tissue disorders, and undifferentiated connective tissue disease.

It is believed that CHB may result when maternal antibodies cross the placenta, enter the fetus, and attack the fetal cardiac conduction system. The antibodies that were originally produced by the mother’s body to fight infections mistakenly recognize parts of the fetal heart’s conduction system as foreign; for this reason, the immune system attacks and damages the tissues, resulting in inflammation and scarring, which in turn leads to faulty conduction. 

What Is the Risk of Congenital Heart Block if I Have an Autoimmune Disease?

A 2017 study conducted by Chinese medical professionals Kai-Yu Zhou and Yi-Min Hua of the West China Second University Hospital, Department of Pediatric Cardiology, revealed that more than half of CHB cases (between 60 and 90%) are associated with maternal autoimmune disease.

Among the general population, CHB occurs in 1 out of every 20,000 live births – an incidence of only 0.00005%. The study found that autoimmune-associated CHB, however, occurs at much more frequent rates, affecting between 2–5% pregnancies with positive anti-Ro/SSA and La/SSB antibodies. The study also found that when a woman had a child with CHB, the recurrence rate of CHB was 12–25% for a subsequent pregnancy.

Mortality Rate & Treatment for Congenital Heart Block

The perinatal mortality rate of a newborn with CHB is up to 30%, and even higher in the presence of endocardial fibroelastosis (EFE) or dilated cardiomyopathy (DCM), which are other potential complications associated with CHB.

If CHB is detected in utero by a fetal electrocardiography (ECG) and echocardiography, your OB/GYN may prescribe an adrenocorticosteroid such as dexamethasone, which works to decrease inflammation and the number of circulating maternal antibodies in the fetus.

Once born, other studies have shown that between that 64 and 70% of CHB survivors require surgery to permanently implant a pacemaker, a medical device which stimulates the heart to contract so that it can pump blood.

How to Prevent Congenital Heart Block

A 2016 report by the American College of Rheumatology states that there are no official guidelines about the prevention, screening, and treatment of CHB due to maternal Ro antibodies.

However, in the same report, it was stated that in a survey of 330 women with autoimmune conditions, 67% were told by their rheumatologists to use hydroxychloroquine (also known as Plaquenil) to prevent CHB. In addition, 62% were told to start the drug prior to pregnancy, in order to prevent the condition from developing.

Another study published in The Journal of the American College of Cardiology stated that hydroxychloroquine reduces the recurrence of CHB below the historical rate by more than 50%, further demonstrating the promise of this drug in the prevention of CHB.

Have you or someone you love been affected by congenital heart block (CHB)? Let us know in the comments below!

Autoimmune Disease & Peripheral Neuropathy

Peripheral Neuropathy is a common complaint among autoimmune patients. Image courtesy of the Southern Regional Pain Services.

Did you know that autoimmune disease can cause debilitating nerve pain and other nervous system difficulties?

Many medical professionals are unaware that autoimmune conditions can cause a variety of neurological symptoms, or neuropathies, in patients. Though it is commonly known that autoimmune diseases are responsible for joint pain and other kinds of inflammation, nerve pain is often overlooked.

According to the National Institute of Neurological Disorders and Stroke, peripheral neuropathy refers to conditions that involve damage to the peripheral nervous system, which is the vast communication network that sends signals between the central nervous system (the brain and spinal cord) and other parts of the body. Research has shown that over 20 million Americans suffer from some form of peripheral neuropathy, of which there are over 100 known unique types!

How can autoimmune disease cause peripheral neuropathy?

Systemic autoimmune diseases that impact the entire body can cause peripheral neuropathy because of the impact these diseases have on one’s nerves. Conditions like Type 1 diabetes, lupus, Sjogren’s syndrome, and rheumatoid arthritis can all cause nerves to become compressed or entrapped as a result of inflamed surrounding tissues.

Some autoimmune diseases aren’t systemic, or body-wide, but rather, target the nervous system directly. For example, in autoimmune conditions like Guillain-Barre, multiple sclerosis (MS) and chronic inflammatory demyelinating polyneuropathy (CIDP), the immune system may go after the motor nerves, motor fibers, or the myelin sheath coating the nerves. In other instances, the small fibers are attacked, resulting in ongoing chronic pain.

How does peripheral neuropathy manifest?

Peripheral neuropathies can manifest for different people in different ways. For example, rather than a sharp, jabbing, throbbing pain, for some patients it may feel more like prickling, tingling, burning, numbness, or even a complete loss of sensation.

According to the Mayo Clinic, peripheral neuropathy can also make you feel like you’re having a sensation that you’re not; for example, feeling like you’re wearing gloves or socks when you’re not. Peripheral neuropathies can also cause you to feel pain for activities that you know shouldn’t cause pain, such as pain in your feet after they’re underneath a blanket.

What you can do about your autoimmune nerve pain

Medical Interventions

If you have autoimmune nerve pain, don’t suffer in silence. Talk to your primary care physician and see if they can refer you to a neurologist or chronic pain specialist. From there, your physician can help put together a treatment plan to ease your pain.

I have Sjogren’s syndrome and for a period of 7+ years, chronic pain was a regular part of my life. My rheumatologist prescribed me all kinds of joint pain medications, from plaquenil (generic name: hydroxychloroquine) an anti-malarial drug, to prescription-strength nonsteroidal anti-inflammatory drugs (NSAIDs), steroid medications, and even chemotherapies! It wasn’t until my pain was identified as nerve pain, not joint pain, that I was able to switch to a medication that worked to reduce my peripheral neuropathy.

In addition, I worked with a neurologist to determine that I had a co-morbid condition, called benign fasciculation syndrome, which was also contributing to my pain. This is important, because many chronic pain sufferers have co-morbidities, like fibromyalgia, which can increase your pain levels or even be the real driving force behind it.

Lifestyle Considerations

Beyond medications, your lifestyle is also an important component of reducing your neuropathic pain. Vitamin deficiencies, for example, have been identified as a cause of peripheral neuropathies. This is because certain B vitamins, including vitamins B1, B6 and B12, as well as vitamin E and niacin, are crucial for maintaining nerve health. Since alcoholism can result in serve vitamin deficiencies, avoiding substance abuse is also key.

Exposure to certain toxins or poisonous substances, such as lead and mercury, can also impact your nerves and cause resulting pain. Finally, trauma and pressure on the nerves can cause neuropathies as well, so alleviating pressure on your nerves, such as decreasing repeated motions on the parts of your body experiencing pain, is important.

Do you have an autoimmune condition(s) and suffer from peripheral neuropathy? What do you do to cope with your chronic pain? Let us know in the comments below!