When Diane F. scheduled a chest scan with the Temple Healthy Chest Initiative, she was hoping to learn about the health status of her lungs. She ended up discovering she has a rare condition that could lead to kidney cancer and other complications.
Now, the results of that chest scan are helping Diane take charge of her health. And, because Diane’s condition is genetic, that simple scan helped more than just Diane — it let her family know that they might be at risk too.
Shedding light on a family medical mystery
Diane wasn’t experiencing any symptoms when she scheduled her chest scan.
The Temple Healthy Chest Initiative uses low-dose computed tomography (CT) scans to find lung cancer and other conditions that occur in the chest early, even before there are symptoms. That’s when there are often more treatment options promising better outcomes.
While screening for lung cancer is an important goal, a chest health screening can reveal so much more. It can screen for and potentially detect other issues in the lungs and chest area, such as emphysema, ILD COPD, heart disease, diabetes, and more. Patients who are older than 50 and have a history of smoking are encouraged to get screened, as they may face higher risk for these conditions.
When pulmonologist Eduardo Dominguez-Castillo, MD, reviewed Diane’s scan, he recognized signs of Birt-Hogg-Dubé syndrome (BHD), a rare genetic condition that can affect the lungs, skin, and kidneys.
Dr. Dominguez-Castillo quickly met with Diane to go over the results of her chest screening. He explained that her scan had revealed pulmonary cysts in her lungs. These air-filled sacs can rupture and cause a collapsed lung (pneumothorax).
Diane hadn’t known she had the cysts. But she recognized the symptoms right away.
“I said, ‘My daughter has the same thing,’ ” Diane says.
One of Diane’s daughters experienced a collapsed lung at age 17. Her doctors explained the collapse had been triggered by ruptured cysts in her lung. Years later, Diane’s daughter experienced a second lung collapse — with the same cause.
“I took her so many times to the ER,” Diane says.
As Dr. Dominguez-Castillo reviewed Diane’s family history, he suspected it was further evidence of BHD.
People with BHD inherit a mutated gene that raises their risk of developing several noncancerous skin, lung, and kidney cysts and tumors, as well as kidney cancer. People with BHD can feel just fine and have no obvious symptoms, but sometimes pale skin tumors, called fibrofolliculomas, develop on the face.
Many experts believe most cases of BHD are caused by changes in a gene called FLCN. Normally, this gene makes a protein that suppresses tumor growth. But with BHD, this gene can’t properly do its job of limiting cell growth.
Diane’s daughter had been looking for answers to her lung problems, and she’d been told by her local doctors that she might have BHD or another rare lung disease, called lymphangioleiomyomatosis (LAM).
But it was only after Diane had her lung scan and the family began comparing notes that her daughter finally received a proper diagnosis through genetic testing.
“I feel like we finally know what's going on after all these years,” Diane adds. “Now we're getting clarity on what is actually happening.”
Managing the risks of BHD
Two of the biggest risks from BHD are the increased chances of kidney tumors and the lungs spontaneously collapsing. For those reasons, Dr. Dominguez-Castillo recommended that Diane have an ultrasound exam of her kidneys.
“He was unbelievable,” Diane says. “He explained everything to me and said that his concerns were for the kidneys, and that he wanted me to go for an ultrasound.”
That scan did not reveal a kidney tumor, but doctors found a cyst on her ovaries. Most ovarian cysts don’t cause problems. But Diane’s was large, and her healthcare team recommended it be removed surgically as a precaution against cancer or other complications.
Going forward, Diane says, she will likely continue to manage the risks associated with her BHD by having regular kidney ultrasounds. She will continue to follow up with her doctors.
“They basically want to keep an eye on everything — to see what's going on,” she says.
‘Temple was on the ball with everything’
What Diane learned from her lung scan has helped her daughter take measures to manage her own risk from BHD.
“We’re supporting each other in this journey,” Diane says.
Diane also has encouraged other members of her family to ask their doctors about BHD and to find out what steps, if any, they may need to take to help protect their health.
The impact on Diane’s health and the management of her families’ conditions all came about from her chest screening at Temple.
“If I hadn’t had this lung scan, they would have never known I had it,” Diane says.
She offers this message to other lung screening candidates.
“People are scared to get tested, but if you catch something early and you get preventive care, then it's worth the test,” she says.
Diane also praised her Temple team for helping to coordinate the follow-up care she needed after her chest scan.
“Temple was really on the ball with everything,” she says.
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