What Is the Risk of Atrial Fibrillation With RXLI?

While Recessive X-linked Ichthyosis (RXLI) is primarily known for how it affects the skin, staying on top of your long-term health means taking proactive care of your heart, too. Recent research has discovered a strong link between the genetic deletion that causes most cases of RXLI and an increased risk of developing abnormal heart rhythms, specifically atrial fibrillation (AFib) and atrial flutter ^[1]. Because these rhythm issues can be “silent” and cause no symptoms at first, experts recommend discussing your cardiac risk and whether a baseline electrocardiogram (EKG) is appropriate with your primary care doctor ^[1].

The Biological Link Between RXLI and Your Heart

RXLI is most commonly caused by a missing STS gene (specifically a deletion in the Xp22.31 region of the X chromosome), which leads to a deficiency of the steroid sulfatase (STS) enzyme ^[2][3]. While this enzyme deficiency causes the characteristic scaly skin of RXLI, the STS enzyme is also naturally present in your heart tissue and blood vessels ^[1].

When the STS gene is deleted, it appears to affect how the heart’s electrical and structural systems function. Studies show that adult men with this specific genetic deletion have a substantially higher risk of developing atrial fibrillation or atrial flutter compared to men in the general population ^[1]. In fact, up to 35% of individuals carrying the Xp22.31 deletion may experience some form of abnormal heart rhythm ^[1].

(Note: If your RXLI is caused by a smaller, isolated gene mutation rather than a full Xp22.31 deletion, your risk profile may differ, making it important to discuss your specific genetic test results with your doctor).

The Danger of “Silent” AFib

Atrial fibrillation and atrial flutter are conditions where the upper chambers of the heart beat irregularly and often too fast ^[4]. While some people feel palpitations, fluttering, or shortness of breath, many men with RXLI have asymptomatic or “silent” episodes. These abnormal rhythms often come and go rapidly without you ever noticing them ^[1].

Even when you cannot feel it, AFib allows blood to pool and become sluggish in the heart, drastically increasing the risk of forming a blood clot. If a clot breaks loose, it can travel to the brain and cause a stroke ^[1]. Over time, untreated AFib can also weaken the heart muscle and contribute to heart failure. Understanding this “silent” risk is why early detection through medical screening is vital.

Partnering With Your Doctor for Monitoring

Because you cannot rely on feeling sick or having a racing heartbeat to know if you have AFib, routine medical screening is your best defense. Since a dermatologist likely diagnosed your RXLI, it is highly recommended to share this information with your primary care physician to coordinate your cardiovascular care.

While there are no formal, universal clinical guidelines yet specifying an exact age to begin screening for men with RXLI, research highlights that cardiovascular risks increase as men reach middle age ^[1]. Discussing a preventative strategy with your doctor in adulthood is key.

• Catching it early: A simple, painless EKG (electrocardiogram) can detect irregular electrical activity in your heart, even if you feel perfectly healthy. However, because a single point-in-time EKG can easily miss an intermittent (paroxysmal) episode, your doctor might also suggest a wearable Holter monitor or certain smartwatch features to track your heart over a longer period.
• Effective management: If an abnormal rhythm is detected, there are many effective medical interventions available to manage it and reduce your risk of complications ^[1]. Your doctor can prescribe blood thinners (anticoagulants) to significantly lower your stroke risk, or use medications and procedures to keep your heart rhythm steady.
• Tracking associated risks: Interestingly, researchers have noted that Xp22.31 deletion carriers who experience heart rhythm issues sometimes also have a personal history of asthma, anemia, or gastrointestinal issues ^[1]. Sharing your full medical history with your primary care doctor helps them assess your overall health and determine the best monitoring schedule for you.