VUMC accredited for primary ciliary dyskinesia care

by Nancy Humphrey

Vanderbilt University Medical Center has been named a fully accredited adult PCD (primary ciliary dyskinesia) Foundation Clinical and Research Center site.

It joins Monroe Carell Jr. Children's Hospital at Vanderbilt, which received the pediatric accreditation in 2018. The foundation's 45 accredited sites work together to improve awareness of the rare inherited disease and care for the patients who have it.

The adult accreditation will allow pediatric patients seen at Monroe Carell to seamlessly transition their care to adult clinicians when they graduate to adult care.

PCD affects motile (moving) cilia, tiny hairlike structures that line the airways, including nasal passages, sinuses and lungs, Eustachian tubes of the ear, the reproductive organs and ventricles of the brain.

Motile cilia move together in wavelike motions to carry mucus toward the mouth to be coughed or sneezed out of the body. Mucus contains inhaled dust, bacteria and other small particles. If the cilia don't work well, bacteria stay in the airways and can cause breathing problems such as frequent cough and recurrent pneumonia. Over time, repeated infection leads to permanent damage to the lungs. PCD mainly affects the sinuses, ears and lungs, and many who have PCD have breathing problems from the moment of birth.

PCD affects between one in 10,000 and 30,000 births. While symptoms are present from birth, PCD is often mistaken for other conditions, leading to delayed or missed diagnosis.

As a result, there are thousands of people who may have PCD and not know it. Diagnosis has been challenging in the past, but it has improved due to recent advancements in PCD genetic testing and a better understanding of the clinical features of the disorder.

PCD can also lead to ear and sinus infections along with hearing and speech development issues. Most children with PCD have reversible hearing loss due to an accumulation of fluid in the middle ear, and adults with PCD may develop permanent hearing loss requiring use of hearing aids. In addition, many individuals with PCD also have fertility issues.

Ciliary activity is also responsible for organ placement in the developing embryo. About 50% of people with PCD will have organ placement changes due to the absence of functioning cilia, and some may have congenital heart defects.

"It's important that we're being accredited by the PCD Foundation," said James Tolle, MD, associate professor of Medicine. "This organization is made up of international experts in the field who determine that the processes and methods we use are standard and that we will identify, diagnose and treat patients appropriately.

"We are being recognized for having the expertise and the ability to diagnose and treat patients with PCD," he said. "That's not present everywhere. If you're referring a patient with PCD who needs care, going to an accredited center is crucial. Having a center is important since PCD affects multiple organ systems and there are often multiple specialists who need to be involved."

Tolle said since the disease is believed to be underdiagnosed, the Vanderbilt centers hope to help increase the appropriate diagnosis of the condition.

"We hope our work in developing the bronchiectasis (a condition in which the airways of the lungs remain permanently damaged and widened due to a persistent infection) clinic in the adult clinic will help lead to improved diagnosis in adult patients who have PCD but have eluded diagnosis to that point," Tolle said.

"PCD is a lifelong chronic disease and thus it is so important to have an accredited center of excellence where we can transition our pediatric patients after they graduate from high school," said Michael O'Connor, MD, assistant professor of Pediatrics and director of the Monroe Carell center. "I'm so grateful to Dr. Tolle and his team for establishing this PCD center. Furthermore, so much of the ongoing PCD research requires collaboration between adult and pediatric providers, and I am so excited to have an adult counterpart within the Medical Center," he said.

"We are delighted to add Dr. Tolle and the team from VUMC to our growing network," said Michele Manion, president of the foundation. "Adults with PCD struggle to find the care they need, and we are excited to add this state-of-the-art center for patients. Additionally, Vanderbilt University has been our long-standing partner in the PCD Foundation Registry, a national data collection effort that will help us better understand this disorder and improve the lives of people affected by it.

"The addition of an adult expert center for PCD at VUMC will expand our knowledge of this disorder across the life span, ultimately benefiting the PCD patient community," Manion said.

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