By Laura Eggertson

Twenty years after he graduated from Dalhousie Medical School, a doctor nicknamed Canada’s “House” has returned, hoping his expertise in diagnosing mystery illnesses will lead to the creation of an Atlantic Centre for Rare Diseases.

Dr. Luke Chen (Dal Med 03) is a hematologist who has become the go-to resource across Canada for advice to other physicians treating a basket of rare inflammatory diseases, including some blood and bone-marrow cancers.

Since returning to Halifax and Dalhousie after 17 years at the University of British Columbia, Dr. Chen has been overwhelmed by the demand to see patients in his hematology practice, and has already diagnosed more than 30 people with rare diseases here in the Maritimes.

“There are a lot of people wandering around the Maritimes with these unusual things who are suffering, who are just landing in Emergency, and nobody knows what they have,” Dr. Chen says.

At UBC, the residents Dr. Chen supervised nicknamed him “House” after the television doctor actor Hugh Laurie played in the hit medical drama of the same name.

Although Dr. Chen hopes he has a better bedside manner than that of the gruff TV character – who also diagnosed mystery illnesses – he is equally drawn to investigating puzzling symptoms and piecing together diagnoses and treatment plans that save lives.

“In hematology, we deal with really cognitively challenging diagnostic cases, and it’s really satisfying when you are actually able to make that diagnosis,” he says.

One of the patients Dr. Chen and his team recently helped is Anthony Ha, a 39-year-old IT architect at Irving Shipyards who developed an unrelenting “fever of unknown origin” that saw him hospitalized for 21 days last year.

Mr. Ha was already living with systemic sclerosis, a rare auto-immune disorder that involves hardening and tightening of the skin, when he developed the fever. At its highest, it reached 41 C, and only the maximum doses of Tylenol and ibuprofen would bring it down.

“Every night was torture, because the fever would be worse at night,” Mr. Ha says. “I was soaking through my shirts and all the linens they were giving me every night. I lost 15 pounds … my inflammation levels were super high; my hemoglobin was super low … my spleen was enlarged.”

Despite being treated with antibiotics for what doctors assumed was an infection driving the fever, nothing worked, until Mr. Ha met Dr. Chen’s hematology team.

After checking Ha’s bone marrow biopsy results, Dr. Chen and his team determined Mr. Ha had contracted cytomegalovirus (CMV). The virus that had triggered an early form of a second rare immune disease called secondary hemophagocytic lymphohistiocytosis (HLH). HLH is one of the rare blood cancers Dr. Chen studies.

Once the team knew what they were dealing with, Mr. Ha was prescribed antiviral medication that reduced the viral load in his system, and he began getting better.

“Dr. Chen was pretty awesome,” Mr. Ha says. “Solving puzzles and in particular the HLH feature of all this was intriguing to him because he’s got research in it. He spotted it just like that.”

Dr. Chen often gets calls from doctors working in emergency departments across Canada, as well as requests for advice about the rare diseases he studies from physicians in other parts of the world, he says.

He believes Dalhousie is well-positioned to create an Atlantic Centre for Rare Diseases because of its renowned researchers in immunology, infection, genetics and hematology, the university’s robust biobank, which can provide tissue samples for researchers, and the excellent clinical trials facilities here.

“Dr. Chen has been a fantastic addition to our team,” says Dr. Sudeep Shivakumar, an associate professor at Dalhousie and interim head of the Department of Hematology. “His expertise in diagnosing and treating rare diseases has led to benefits in the care of patients here in Nova Scotia, he’s built bridges with other medical specialists, and he’s advocated for novel treatments for these patients with great success, all in the short time he’s been here. “

Chen’s own research focuses on matching existing drugs that have not previously been tried to treat these rare diseases.

He is also collaborating with Dr. David Fajgenbaum at the University of Pennsylvania on novel therapies for a rare inflammatory disease called TAFRO syndrome. The syndrome is caused by a similar type of cytokine storm that proved deadly to many early COVID patients when the body’s immune system reacts too aggressively to infection.

One of his first patients on returning to Halifax was a young woman with TAFRO – a previously unrecognized disease in Nova Scotia.

“I started treating her for TAFRO, and now she’s doing very well,” he says.

Dr. Chen’s work on these inflammatory diseases and their immune system reactions also brought him into the thick of the battle against COVID-19 in the early days of the pandemic. He was among the clinicians that recognized the need to use immune-suppressant medications to dampen the cytokine storms that COVID triggered.

“When COVID first hit, it became evident that our immune system was what was killing us,” he says. “The reason I got into COVID was HLH and TAFRO are very adjacent to the immune dysregulation we saw in COVID.”

Although Dr. Chen is often able to provide an answer for patients with mysterious illnesses, he is not always successful. He keeps a database of the mysterious inflammatory cases that elude him, and whenever new knowledge emerges in medical journals, he goes back to those cases to see if any of them fit the new criteria.

In many of the rare diseases Dr. Chen specializes in, research is helping to make successful inroads in treatments, he says. He firmly believes Dalhousie can become a powerhouse of clinical and research expertise in these areas.

“I think we can attract the best and the brightest residents and fellows from around Canada to come and study rare diseases with us,” he says.

“There’s a lot of medications sitting on the shelf that are ready to treat these people. We just need to figure out the shelf that medicine is sitting on and link it up with the patient.”