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Researchers from the Children’s Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause debilitating neuroinflammation, is more than 4500 times more likely to be found in individuals of Old Order Amish ancestry than in the rest of the global population.

These findings could help clinicians better recognize the disease and develop a standard of care, particularly for Amish patients affected by this disease. The findings were published by the Journal of Allergy and Clinical Immunology.

CFI deficiency is a genetic disorder that affects the immune system, often resulting in a high likelihood of recurrent bacterial infections, and in some cases, vascular and neuroinflammatory symptoms requiring hospitalization and acute management. In addition to genetic factors, ethnic background or epigenetic influences like lifestyle, environmental exposures, and diet can influence the trajectory of the disease, which is estimated worldwide to affect fewer than one in a million births but as high as 1 in 730 members of the Old Order Amish community.

The Clinic for Special Children, which provides clinical care to children and adults with complex medical disorders and has a specific focus on the treatment and research of disorders affecting the Old Order Amish and Mennonite communities, was alerted to an Old Order Amish patient at CHOP presenting with acute neuroinflammatory symptoms of unknown cause.

Rapid exome sequencing identified a variant of unknown significance in the gene CFI, which was found to be the underlying cause of her disease and directed her targeted management and recovery. This case motivated researchers to determine if other members of the Old Order Amish community also harbored this genetic finding, as they share a common genetic heritage, agrarian lifestyle, and environmental exposures. Further investigation found it was quite common and contributed to the disease in multiple Amish individuals.

The first patient presented with headache, decreased consciousness, and weakness on one side of her body, which an MRI confirmed was due to brain inflammation. She was transferred to CHOP due to the severity of her condition and ultimately needed neurosurgical intervention.”

Vincent J. Carson, MD, Study Co-Senior Author and Pediatric Neurologist, Clinic for Special Children

He added, “Rapid exome sequencing, which can provide genetic diagnoses in a matter of days, was done at CHOP and confirmed the diagnosis of CFI deficiency. As a result, she was treated with a specific monoclonal antibody that blocks the complement cascade, called Eculizumab. This resulted in the resolution of the brain inflammation, leading to a full recovery.”

The Clinic for Special Children knew that patients with Old Order Amish ancestry carried the CFI gene, but did not yet know that a particular variant caused disease. This led to a collaboration between the Clinic for Special Children and CHOP to learn more about the incidence of brain inflammation in CFI deficiency.

“What started as a case report turned into a population study,” said co-senior study author Neil D. Romberg, MD, an attending physician with the Division of Allergy and Immunology at CHOP. “There is a striking level of enrichment of this genetic variant in the Amish community, and now that our understanding of this disease in this population has been expanded, we can offer personalized treatment plans for these patients to help them recover and get back to a normal life within their community.”

“There are about 430 genetic disorders that we treat and counting, and since hundreds of thousands of Amish and Mennonites living in this country can trace their ancestry back to about 80 Amish founders and 240 Mennonite effective founders, we know that certain disorders are much more prevalent while others that are more common in the general population rarely affect this community,” said Laura Poskitt, DO, medical director of the Clinic for Special Children. “With the consent of our patient communities, we’ve been able to maintain a database that helps us learn more about genetic variants that may be more common in these patients in particular.”

When focusing on 11 Amish patients who had this variant, five of the patients had presented with critical neuroinflammatory diagnoses. Those patients recovered with the aid of high dose steroids, and one patient had a clinical response to eculizumab, a monoclonal antibody used to treat several diseases linked to the immune system.

“We have heard from patients treated for this disease that they’ve been able to recover and get back to being active members of their community, so we want to make sure we can properly identify any potentially affected patient and provide them with effective options for managing this disorder,” said first study author Whitney Reid, MD, an attending physician in the Division of Allergy and Immunology at CHOP. “In speaking with this community, they are asking good questions and want to be involved in ways that can not only help affected Amish but anyone who is impacted by this disease.”

“Getting to the root cause of the disease is a game changer,” Carson said. “All patients with inflammation of the brain or spinal cord who have Amish heritage should be tested for CFI deficiency. Knowing this allows us to use targeted treatments, such as eculizumab, and change the course of the disease.”

How to keep heart safe in 20s

While in the 20s, most people do not worry much about their body fitness and heart health, this is also the time when lifestyle habits such as diet, exercise, and handling stress are formed, he shared. “If the right habits are developed now, the risk of heart disease can be reduced in the future,” Dr Chhajer shared.

If you are in your 20s, he suggested you eat a diet rich in fresh fruits, vegetables, whole grains, and proteins, avoid junk food, excess salt, and fried foods, do moderate-intensity physical activity, such as brisk walking, swimming, or cycling, for at least 150 minutes a week, and also try meditation, yoga, or deep breathing techniques to reduce mental stress for a healthy heart.

What about people in their 30s and 40s?

Speaking of 30 to 40 years of age (beginning of middle age), the cardiologist listed signs of heart-related problems, such as high blood pressure and changes in cholesterol and blood sugar levels, that may be seen in this decade, and said, “Most people stay away from physical activities due to their careers, families, and other responsibilities. Which harms heart health.”

Sharing prevention tips for people in 30s and 40s, Dr Chhajer suggested:

1. General health check-up: Get your blood pressure, cholesterol, and blood sugar checked regularly. If there is any discrepancy, seek treatment at the right time.
2. Increase physical activity: Instead of going to the gym, try increasing physical activity at home by doing yoga or household chores.

Note to readers: This article is for informational purposes only and not a substitute for professional medical advice. Always seek the advice of your doctor with any questions about a medical condition.

As a primary care doctor, you’re often the first clinician that patients trust to discuss cardiac issues. Not only can you assess cardiac symptoms, order diagnostic tests, and refer your patients to a cardiologist but also you can use this front-line role to discuss other ways to treat cardiac concerns.

During your consultations, you will likely explain the role of healthier eating habits to boost cardiovascular health. If your conversations include using probiotics in a patient’s diet there are specific things patients should know about probiotics and the impact on cardiovascular health.

Do Probiotics Help Lower Cholesterol or Improve Circulatory Health?

Probiotics may help the heart in ways we’re just beginning to understand, said Maria Carolina Delgado-Lelievre, MD, assistant professor of medicine at University of Miami Miller School of Medicine, Miami.

Clinical evidence demonstrates that certain strains of probiotics can reduce risk factors for heart disease, like high blood pressure, high cholesterol, and inflammation. For example, Delgado-Lelievre said, Lactobacillus and Bifidobacterium strains have been shown to reduce inflammatory markers, support better insulin sensitivity, and even help lower low-density lipoprotein (bad) cholesterol and triglycerides in some human and animal studies. “One potential mechanism is through bile salt hydrolase activity — this helps break down bile in a way that reduces how much cholesterol is absorbed into the blood,” she said.

In some cases, probiotics have also been linked to better blood flow, by helping remove cholesterol plaques in the arteries, she said.

Best Ways for Patients to Consume Probiotics

Delgado-Lelievre said that traditional and everyday foods are rich in natural probiotics. These include:

• Yogurt and kefir (fermented milk drinks)
• Cheese (certain aged varieties)
• Miso, tempeh, natto, idli, and dosa (fermented soy or grain-based foods)
• Sauerkraut, kimchi, pickles (naturally fermented)

An effective approach could be to ease a patient to probiotics.

“I always recommend yogurt as a food to eat daily because it has protein and probiotics, mainly when people complain of gastrointestinal issues you can start by trying probiotics to see if they help,” said Sandra Arévalo, MPH, RDN, CDN, CDCES, FAND, a registered dietitian nutritionist and spokesperson for the Academy of Nutrition and Dietetics, who is director of Community Health and Wellness and administrative director of the Jacob’s Family Pride Wellness Center at Montefiore Nyack Hospital in Nyack, New York.

Should You Recommend a Probiotic Supplement?

Probiotic supplements can be a good option, especially if someone doesn’t eat many fermented foods. “But not all products are equally effective, and not all strains work the same way,” cautioned Delgado-Lelievre. Because some probiotics are more geared toward gut health, while others may support heart or metabolic function, it’s important to choose wisely, she said.

She recommends patients discuss taking a probiotic supplement with a healthcare provider before starting any supplement, particularly if they have existing conditions like heart disease, diabetes, or are on medications. “A tailored recommendation is often safer and more effective,” she said.

Who Shouldn’t Take or Eat Foods With Probiotics?

In certain cases, patients should avoid them. While probiotics are generally safe for healthy people, caution is needed in those with weakened immune systems, such as patients undergoing chemotherapy, transplant recipients, or low birth weight infants. “In rare cases, even nonpathogenic bacteria can lead to infections in vulnerable individuals,” Delgado-Lelievre said. Again, patients should speak to healthcare providers before starting probiotic supplements or even high-dose fermented foods.

It’s widely known how probiotics can help regulate bowel movements, help reduce gas and inflammation, and reduce bloating, said Antonette Hardie, RN, a registered dietitian at Ohio State University Wexner Medical Center in Columbus, Ohio. But she cautioned, although “highly unlikely,” there’s always a thing as too much of anything, including probiotics. “Too many probiotics can cause diarrhea, gas, and bloating while your body adjusts and these likely resolve within a few days or weeks,” Hardie said.

Manage Expectations for Patients

Although beneficial, explain to your patients that probiotics “are not a magic pill, but they are a promising ally in cardiovascular health,” Delgado-Lelievre said. “Through their impact on inflammation, blood pressure, cholesterol, and insulin sensitivity, they may help reduce risk factors for heart disease.” 

So whether through diet or supplements, she said the key is to help your patients make informed choices as probiotics are part of a broader lifestyle approach that puts prevention at the heart of care.