Courtney Weirauch had never heard of lymphangioleiomyomatosis, nor could she pronounce it. Until she was diagnosed with the rare lung condition in 2021 after the birth of her second child.

In the months that followed her diagnosis, the 33-year-old learned that lymphangioleiomyomatosis (lymph-an-gio-leio-myo-matosis), or LAM, is a progressive disease where abnormal growth of smooth muscle cells can enter the lung tissue, airways, blood vessels and lymphatic vessels. The smooth muscle cells can obstruct the airway and break down lung tissue, leading to the development of cysts (air-filled holes) that can result in in lower blood-oxygen levels and force the heart to work harder.

LAM, often discovered in women of childbearing age, can go undiagnosed because young women may not experience symptoms for a long period of time. When they do, the symptoms — including shortness of breath, fatigue and chronic cough — are nonspecific and can mimic those of other conditions such as asthma or COPD.

As a result, LAM is often diagnosed incidentally. This was Weirauch’s experience.

“I was postpartum with my daughter and began having sharp pains in my left side,” the Frankenmuth, Michigan, resident recalled.

Her primary care physician recommended an X-ray, thinking her pain might be the result of kidney stones.

But a follow up CT scan revealed a more critical diagnosis: A tumor and aneurysm were growing on her left kidney. In December 2020, Weirauch underwent surgery to embolize the aneurysm and remove the benign tumor.

When her pain continued, with new symptoms that included chest pain and fatigue, Weirauch said she “knew something wasn’t right.”

But it would take months for doctors to figure out what was wrong.

The source of pain

Finally, another CT scan in mid-2021 revealed cysts in her lungs, with LAM as the suspected diagnosis. Weirauch was referred to University of Michigan Health, where she met with pulmonologist and LAM specialist Bonnie Wang, M.D., who confirmed the diagnosis.

“Because the disease commonly affects young, otherwise healthy women, they may not know there are cysts in the lungs until a cyst ruptures, which can cause a collapsed lung, or there can be findings associated with LAM that may be discovered in another organ first,” said Wang.

This was the case with Weirauch.

“Her specific presentation started with the kidneys, but her ongoing pain led to chest imaging that detected cysts in the lungs,” said Wang. “The estimated prevalence of LAM is around five patients per million, so it is rare. The presentation can also be variable, and can affect older women as well,” Wang said.

In some cases, LAM can be linked to a genetic condition called tuberous sclerosis complex, or TSC. “There are a few case reports of men with TSC and LAM. in general, it's extremely rare," said Wang.

Extensive expertise

Weirauch felt certain she was in the right place for her care. As the only LAM Clinic in Michigan, U-M Health interacts with other LAM Clinics around the country and is extensively involved with the LAM Foundation. Wang and MeiLan Han, M.D., co-directors of the U-M LAM Clinic, have also presented at the annual International LAM Research Conference & LAMposium, the largest LAM conference in the world.

The estimated prevalence of LAM is around five patients per million, so it is rare.

Bonnie Wang, M.D.

“I am absolutely confident I went to the right place,” said Weirauch. “I was very lucky to see Dr. Wang because the condition is so rare and she happens to be one of the U-M LAM Clinic directors.”

Like Weirauch, patients from throughout Michigan as well as from out of state travel to U-M Health seeking expertise in the diagnosis and treatment of LAM.

“Every patient receives a comprehensive evaluation when they come to U-M Health,” said Wang.

Diagnosing LAM is typically done through a comprehensive interview and exam, a high-resolution CT scan of the lungs, abdominal imaging, blood tests, genetics evaluation and, if needed, a lung biopsy. A patient’s lung function is also measured as a baseline for determining progression of the disease.

Innovative research and therapies

While there is no cure for LAM, treatments can include drug therapy, bronchodilator therapy to improve airway obstruction, and supplemental oxygen. Pulmonary rehabilitation is also often recommended, and for some patients with severe LAM, a lung transplant evaluation may be necessary.

Weirauch’s treatment began with a bronchodilator, which she says helped reduce her symptoms. She is also enrolled in the MILED Trial, a blind clinical trial in which half of the participants are given Sirolimus, a medication used in kidney transplant and some forms of cancer, to see if progression of LAM can be slowed while lung function is still normal.

“Much research has been done on LAM in a short period of time. And one of the big breakthroughs was the finding that Sirolimus helps stabilize lung function and improves quality of life in patients with LAM,” said Wang. “Being seen at a LAM Clinic can connect patients to other novel research studies and clinical trials that can offer patients access to the latest therapies. The MIDAS study, for example, follows patients with LAM over at least two years by collecting data from their regular clinic visits.

“Lung function decline in patients with LAM can be accelerated in the presence of estrogen,” noted Wang, who also added, “Patients often have questions around the topics of menstrual cycles, birth control and pregnancy. We continue to try to understand the exact pathways between hormones and LAM and expect to see more research in this area.”

What you should know

Any young woman who has experienced a collapsed lung should undergo a high-resolution CT scan of the lungs to evaluate for LAM, says Wang.

She urges women, whether or not they’re pregnant or of childbearing age, to pay attention to their health.

“If you have new or worsening symptoms such as shortness of breath, chest pain or cough, trust your gut. Be evaluated by a physician so that we can ensure good health. Whether someone has LAM or another lung condition, it’s important to be evaluated – even if the evaluation ends up in reassurance. That's very important as well.”

Weirauch knows that LAM is a progressive disease and that it may get worse. But, she says, there is “a breath of hope” in her discovery of the LAM Foundation and what she refers to as her “Lammie tribe,” made up of others diagnosed with the condition.

“Hearing other women tell their stories is empowering, uplifting and promising,” she said of the group she connected with on Facebook and during the 2022 LAMposium. “We share words of encouragement, vent concerns and ask questions of those who are further along in their disease progression. I’m lucky enough to be mild in my disease at this time,” she said, noting that she and others with the condition see hope on the horizon with the MILED trial and other important studies.

For now, her goals are to be healthier, to be a good wife and a loving mom to four-year-old Winston and two-year-old Charlotte, and to raise awareness of LAM.

“Most people don’t know about it,” Weirauch said. But she’s determined to change that as she shares her experience to help spread the word.