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!

Professional Soccer Player Describes Life with Autoimmune Diseases

Shannon Boxx, a professional women’s soccer player, secretly battled two autoimmune diseases while winning medals across the globe

Playing Professionally with Invisible Illnesses

In 2012, Shannon Boxx, a professional soccer player on the US national women’s team, was at the top of her career. She had earned medals at three World Cup games and two Olympic gold medals. However, unbeknownst to her teammates and coaches, she had actually been diagnosed with a debilitating autoimmune disease a decade prior, and another autoimmune disease just four years ago.

Boxx, now 42, was first diagnosed with Sjogren’s Syndrome in 2002, which causes widespread dryness, joint pain and fatigue, among other symptoms. She was later diagnosed in 2008 with systemic lupus erythematosus (SLE), or simply, lupus, which also causes a myriad of symptoms, including joint pain, muscle pain, fatigue, skin rashes, brain fog and major organ involvement.

Treatment for Lupus and Sjogren’s Symptoms

When interviewed by the publication The Undefeated, Boxx said that she manages her lupus flares by wearing compression pants, which help with the joint pain that she experiences in her knees. She also takes hydroxychloroquine, also known as Plaquenil, an anti-malarial drug that helps her to manage the joint pain associated with both of her autoimmune conditions. Boxx describes her joint pain as severe; “There were times, even when I was playing on the national team, I was having teammates cut my steak for me because it hurt so much on my wrist to actually hold onto a fork or a knife.”

Fatigue and brain fog are other symptoms that Boxx battles daily. “I used to be able to run forever, and now I can barely walk sometimes for a mile or two. And that’s pretty heartbreaking,” she confessed. Boxx has children, and she wants to be able to run around with her kids for as long as possible. “To know that there’s days that I can’t do it, it puts you in a really bad place, mentally,” she said. When asked about how the fatigue feels, she commented, “It is this feeling of a weight just sitting on you and just even to lift your head off the pillow takes so much effort and your eyes don’t want to open. When I was playing it felt like my feet were in quicksand.”

Autoimmune Disease Triggers

Boxx explained that one of the main triggers for her autoimmune flares is stress. Now that the coronavirus is grappling the world, the global pandemic has added another layer of anxiety to the mix, especially given that she is immunocompromised. As a result, the professional athlete is following local shelter-in-place orders, wearing masks diligently and ensuring to frequently wash her hands and stay six feet apart from others.

Another source of anxiety is the fact that hydroxychloroquine, the medication that she takes, has become more scarce as a result of it being explored for its potential use in treating COVID-19. “It makes me sad that there are a lot of people that are suffering or even worse because they now can’t get the medication that they need,” she said.

Boxx believes another potential source of her flares is over-exposure to the sun, though thankfully, most days are overcast in her home of Portland, Oregon in the Pacific Northwest. She also frequently experiences the so-called ‘butterfly rash‘ that is a hallmark of lupus, and can arise following exposure to sunlight.

Two other factors that must be considered in the pathogenesis of autoimmune disease are sex and race. According to the Sjogren’s Foundation, nine out of 10 Sjogren’s patients are women; similarly, the US National Library of Medicine states that nine out of 10 lupus patients are women. Lupus is also three times more likely to occur in African American women than white women. Boxx, for her part, is a biracial woman, so her gender and ethnic background may have played a part in developing autoimmune diseases.

Moving Forward with Chronic Illness

Shannon Boxx plays in a friendly soccer match against Brazil’s women’s team.

Though living with two different autoimmune conditions is undeniably challenging, Shannon Boxx is determined to live her best life. She retired from playing professional soccer in 2015, and is focusing on taking care of her own health, and spending time with her husband and kids. Though she has retired from professional soccer, she enjoys playing non-competitive games with other international teams and coaching kids’ soccer teams.

Boxx is also an advocate for those living with chronic illnesses, and actively participates in awareness campaigns for the Lupus Foundation of America. Commenting on her conditions, she said, “I’ve been able to deal with it, and still do something that I love…[lupus] has shown me that I can’t take [soccer] for granted, because that’s something that I love to do. If anything it’s given me perspective.”