Medical Mysteries Are Their Specialty – Newswise

Newswise LOS ANGELES (April 4, 2022) --Every Thursday, a panel of clinicians from Cedars-Sinai gathers on a video call to spend a full hour talking about a single patient. Each week, the patient is different, but all have one thing in common: No doctor has been able to figure out exactly what ails them.

The clinicians, whose specialties range from internal medicine, neurology and rheumatology to nephrology, gastroenterology, surgery and genetics, are part of theCenter for the Undiagnosed Patient, a specialty Cedars-Sinai clinic founded in 2017 to diagnose and treat patients whose conditions have defied identification.

In spite of efforts by multiple doctors, sometimes patients with chronic conditions are unable to get a diagnosis, saidLeon Fine, MD, professor of Medicine and Biomedical Sciences at Cedars-Sinai and medical director of the center. When we begin seeing a patient in our clinic, our commitment is to help them find a diagnosisor at least a way forwardand the way that we approach this is to take a unique team approach to the patient involving both generalists and specialists.

When a new patient reaches out for help,Jennifer Elad, DNP, ACNP, a founding member of the center, conducts a detailed review of the patients medical recordssometimes years worthand condenses hundreds of pages of doctors handwritten notes, typed reports, test results and other information into a concise report.

Elad also meets in person with every patient to discuss their history in detail and ask a series of questions related to their condition.

My job is to listen to their story, ask about symptoms, what makes things worse, what makes things better, diet, lifestyle, past traumas, medical test results, what treatments have been tried, and to gain an understanding of what the patient perceives to be going on and compare this with what is reflected in their medical records," Elad said. It is important to identify where gaps may exist.

Specialists from throughout the medical center then weigh in as needed to ponder the cases of patients with complaints ranging from pain and inflammation to tremors, balance issues, loss of vision, and even a flagging fastball.

Weve learned to merge our specialized lenses to look at the whole patient, Elad said. When a patient has a mysterious condition, this helps us put the pieces of the puzzle together.

A patient is only enrolled in the center if consulting clinicians believe they can help, sometimes by ruling out a condition the patient or one of their doctors believes is the source of their symptoms.

We have a very robust discussion, saidLawrence Maldonado, MD, co-lead internist. Even if we're not having any brilliant ideas right now, we try to form a plan for moving forward.

Joshua Mould, a 21-year-old studying computer science and statistics at Villanova University in Pennsylvania, had suffered from mysterious balance issues and tightness, called spasticity, in his leg muscles since junior high. When Mould was in eighth grade, these symptoms began interfering with his passion for baseball, and eventually sidelined him.

I wasn't very flexible, Mould said. I also wasn't getting stronger, and I wasnt gaining any velocity on my fastball even though I was lifting weights and working out at least three times a week.

Pitchers generate power through their legs, with the arm simply following through. I didnt have the flexibility to take a very long stride toward the plate, or the leg strength or stability to create much momentum, Mould said.

After a lackluster sophomore year, Mould trained throughout the offseason, even working with coaches from a top sports performance center in hope of making progress. But the next spring, we checked the velocity on my fastball, and it had dropped about 10 miles per hour, he said.

His trainer suggested he see a doctor, and a local neurologist ordered a genetic screening test that identified variations in both copies of his human 4-hydroxyphenylpiruvate dioxygenase-like (HPDL) gene, a gene that had never before been associated with disease. The neurologist connected him withTyler Pierson, MD, PhD, assistant professor of Pediatrics and Neurology at Cedars-Sinai and lead pediatrician at the center.

Over the years, Pierson had seen a few other patients with symptoms and a genetic variation similar to Moulds.

At the time, very little was known about this gene, Pierson said, so further research was needed to determine whether the variation was causing Joshs symptoms.

Pierson and collaborators put together a study involving nearly 50 institutions in the U.S. and abroad, looking at the cases of Mould and 30 others with the HPDL variation, and were able to describe a new disorder called HPDL deficiency (also called SPG83) and provide Mould and the others with a diagnosis.

Pierson said the diagnosis has value, even though HPDL deficiency doesnt yet have a cure, because it lets families know the symptoms came from a condition over which they had no control. It also gives the patient the opportunity to pursue genetic counseling before having children, and to seek information within the community of fellow patients.

It allows them to look for other people with the same diagnosis, whether thats a family research group or even just a Facebook group, said Pierson. They can connect and perhaps gain insight from other families.

Pierson continues to work to better understand HPDL deficiency in the hope of one day finding a therapy that halts or even reverses the progression of symptoms. And Mould takes medications to reduce the tightness in his legs, which he said is helping improve his balance.

Early in high school, it was really hard to deal with, Mould said of his condition. The diagnosis gives me a reason why my muscles arent listening to me, and that its not just my failure to work as hard as other people. And its been really important to me to know that.

Pediatric patients referred to the center are diagnosed most often with genetic conditions. Adult patients are more likely to have conditions that arose later in life, and they often have been to multiple specialists who haven't been able to explain their symptoms or test results.

One typical adult patient is 73-year-old Genevieve Crean, a native of Chino, California, who had always enjoyed good health as she raised two children with husband John and pursued a career as a marriage and family therapist.

Crean was working as a mental health counselor when she began experiencing mysterious abdominal pain. "I remember that first pain episode like it was yesterday even though it was 11 years ago," Crean said. "It was just excruciating, and that was the first of many ER visits we made."

The pain always came on quickly, for no apparent reason, and could last up to six hours, leaving Crean in a fetal position. At first, the episodes came every six months, but the frequency and intensity increased over time. Crean's local doctors were stumped and, over the next eight years, referred her to gastrointestinal specialists, OB-GYN specialists, hematologists, and small-vein specialists. Her gallbladder was removed, and she had four other laparoscopic surgeriesyet her painful episodes continued.

Doctors prescribed narcotics and Crean used meditation practices to help keep the pain at bay. Meanwhile, she and John retired, hiking the Rogue River in Oregon, taking a pilgrimage to Israel and staying active in their church.

"I always took my pain medication with me wherever I went, because when I didn't, I paid dearly for it," said Crean. "But eventually, the pain medication became less effective. I think I was building up a tolerance."

Crean was grateful that she still had many pain-free days, but she kept looking for a solution. Finally, a friend referred her to Cedars-Sinai.

The game-changing question we asked was, had she ever had a CT scan during a pain episode? Elad said. And Genevieve said no.

Not long after that, Crean experienced a pain episode lasting not the usual five or six hoursbut two full weeks. At her local hospital, she got the scan the Cedars-Sinai team needed.

It was very striking, saidEdward Phillips, MD, executive vice chair of the Department of Surgery and director of the Division of General Surgery at Cedars-Sinai, who consulted on Creans case. It was a eureka moment and we could see quite clearly that she had a femoral hernia.

A loop of Creans bowel had become trapped in the space where the artery and vein supplying blood to the leg pass through her pelvis. But the bowel wasnt completely stuck, which explained the intermittent nature of Creans pain.

Sometimes, she had a partial obstruction, sometimes no obstruction and sometimes complete obstruction, said Phillips. And that just confounded everything because the symptoms of those three things are all different.

To correct the problem, Phillips decided to do a laparoscopic, minimally invasive procedure where a small camera is inserted to view the area, and possibly to free the bowel. During the procedure, however, he discovered that the bowel was swollen and stuck firmly in place.

It was very delicate because it had been obstructed for a while, Phillips said. So, I made an incision overlying the femoral area. Working from both the inside and outside, I was able to free up the bowel without injuring it.

Phillips then repaired the area where the bowel had pushed through. It was a successful procedure. We knew immediately that it was going to help, he said.

After one night in the hospital, Crean went home. The pain hasnt come back, but her healing wasnt only physical. It was such an emotional relief, said Crean. As the days turned into weeks, turned into months, turned into years, I grew more and more confident.

Not all patients enrolled in the center are cured, or even diagnosed, but Maldonado said that most are helped in some way.

Sometimes that means ruling out a diagnosis the patient had been fearing. Sometimes it means helping the patient better manage their symptoms, or the anxiety and depression that can come with experiencing years of unexplained yet debilitating health issuesand perhaps feeling like the doctors treating them dont believe them or arent really trying to help.

Sometimes we explain to the patient that, while we dont have a cure or even a diagnosis for them, we do understand that their symptoms are real and troubling, Maldonado said. Because feeling anxious or depressed can make those symptoms feel 10 times worse, well connect them with a psychiatrist to see if there are some strategies to help them get at least a part of their life back.

Another potential avenue of help comes through theVan Eyk Laboratoryat Cedars-Sinai, whereJennifer Van Eyk, PhD, and her team collect patient data that might correlate with their symptoms.

Weve been building what's essentially a bio registry, Maldonado said. But one of our goals is to be able to analyze this information and come up with treatment strategies for some of these patients. We can tell patients this might one day make a meaningful difference for them and that they are also helping a number of future patients they may never meet.

Read more on the Cedars-Sinai Blog:Unlocking the Mysteries of Endometriosis

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Medical Mysteries Are Their Specialty - Newswise