Hemophagocytic Lymphohistiocytosis: Luca’s Story

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Luca was first diagnosed with hemophagocytic lymphohistiocytosis (HLH) — an extremely rare disease of the immune system — when he was 16. He battled it for a few months at Children’s Hospital of Philadelphia (CHOP), then seemed healthy. When it struck again, it ravaged his body and nearly took his life more than one time. This time Luca was an adult in his mid-20s, yet he was nonetheless again cared for at Children’s Hospital, where a team of experts dedicated to treating HLH can manage this disease that is not fully understood.

Luca and his parents When HLH struck teenage Luca the first time, it was triggered by a bout of mononucleosis (mono). He was hospitalized at CHOP, put on steroids and missed several months of school. This experience was nothing compared to what he would go through the second time.

In March 2016, “I was at my job as a pharmacy tech at CVS, and I felt fine,” Luca says. Suddenly he developed a fever of 104.5° F. “I just walked out of the store.” The next day he went to the emergency department, where doctors initially suspected lymphoma, a cancer of the lymphatic system, before diagnosing HLH again.

Hemophagocytic lymphohistiocytosis is actually a group of disorders. In people with HLH, the immune system becomes chaotic. White blood cells can’t perform their normal job of fighting infections, and instead overproduce and grow out of control, causing inflammation and damage to several parts of the body, including the liver, spleen, bone marrow and brain.

About HLH

HLH has classically been divided into two forms. The primary form is inherited through a gene mutation. Patients with this type of HLH usually experience symptoms as infants or very young children, and the disease is triggered by a cold or flu. The secondary form is typically acquired and starts after a strong trigger, such as cancer, a rheumatologic disorder such as rheumatoid arthritis or lupus, or an infection like the virus that causes mono.

Recently, though, the line between primary and secondary has gotten more blurred. “Patients with the ‘acquired’ secondary form often also have genetic mutations,” explains oncologist David Teachey, MD, a member of CHOP’s HLH treatment team. “The difference is a stronger trigger is needed to get HLH, and you only get HLH with that. Most people who get mono do not get HLH, but there are some people that are at risk to get HLH if they get mono. Another big difference is that primary HLH often requires a bone marrow transplant for cure. With secondary HLH, the goal is to treat the strong trigger. Nevertheless, some people who are thought to have secondary HLH need a transplant.”

Seeking out "the HLH guy”

After Luca’s second HLH occurrence, he was again put on steroids. After several months, “The conversations about chemotherapy and bone marrow transplant started,” he recalls. At that point he turned to CHOP and sought the opinion of Dr. Teachey and the HLH treatment team, which includes oncologists, rheumatologists, immunologists and more. “Teachey’s the HLH guy,” explains Luca.

“HLH is not a cancer, but its treatment approach is similar to that of leukemia and lymphoma, because the same drugs are often used,” explains Dr. Teachey. Chemotherapy can help suppress the out-of-control immune system. A bone marrow transplant from the bone marrow from a healthy person can replace the patient’s defective immune system.

“Dr. Teachey said that chemo alone may or may not be effective,” recalls Luca. “The bone marrow transplant would work if it’s the inherited form.”

“Luca’s case was unusual for two reasons,” says Dr. Teachey. “First, it is rare to have a long period of time between HLH flares, especially in children who present with HLH after getting the virus that causes mono. Second, he did not become critically ill with the first flare and also did not become critically ill with the second flare — at first.” Dr. Teachey and the HLH team recommended a bone marrow transplant, but told Luca it was ultimately his decision — one that wasn’t clear cut. Also, finding a donor was made more complicated because Luca is adopted, but one was eventually located.

Faced with these daunting treatment options, Luca wasn’t sure what to do. “I sat on the sofa for two weeks wallowing in extreme depression, until my mom said to me, ‘You’ve got to get up and move forward.’” He started chemotherapy at Penn Medicine, with no plan to follow it with the marrow transplant, hoping that the chemo would work.

A drastic turn for the worse

In October 2016, Luca, now 25 years old, was about to start his second round of chemo when he became significantly more ill. His joints got swollen, his breathing became difficult, his organs started shutting down. Because his disease was getting worse, he was transferred to CHOP by ambulance and was admitted to the Hospital for stronger therapy.

“I normally weigh around 125,” he notes, “but I was floating in the 180 to 200 range,” due to complications of the disease and medications. Shortly after admission, he became critically ill. He lost the ability to walk and most of his organs were shutting down. He was transferred to CHOP’s Pediatric Intensive Care Unit and intubated several times. It wasn’t clear if he’d live.

During this period, “I was crying a lot,” Luca says. “I was 26 years old. I had lost all muscle control. Everything had to be done for me. It was very dehumanizing.”

CHOP doctors from various specialties — Oncology, Nephrology, Cardiology — collaborated on Luca’s treatment. “I think every doctor at CHOP knows my story, but I don’t remember a lot of them,” he says about his time in the PICU.

After several weeks, Luca improved enough to leave the PICU, but he was back again in December 2016 due to a bout of sepsis. After he was no longer in critical condition, he needed to start physical therapy with the goal of walking again. “I had to be strong enough to even get to the step of getting a transplant,” Luca explains. In January 2017, he was transferred to the Seashore House for intense physical and occupational therapy.

After several weeks of therapy, although he was still in a wheelchair, he was deemed well enough and received the bone marrow transplant. Just before Mother’s Day, when he was finally able to briefly walk up steps on his own — he has a video on his phone of the first steps he had taken in nine months — he was discharged.

So much gratitude

Luca Luca’s health problems didn’t disappear overnight after the transplant. Indeed, he was back as an inpatient at CHOP several times during the remainder of 2017. “A bone marrow transplant wipes out a person’s immune system for a long time, and patients frequently get admitted for complications from the transplant,” says Dr. Teachey.

It’s taken months of work, but he’s improved remarkably. By February 2018, he was getting physical therapy three times a week and — to his delight — taking boxing and ballroom-dancing classes.

I'm super active now.

“I have so much gratitude for all of the staff at CHOP,” he says with emotion. “I had doctors read books to me, play games with me, sit and talk for a long time. I was never allowed out of my room. I really looked forward to the nurses and staff that would pop in and out of my room daily.” He was an adult at a children’s hospital, and was treated like an adult — although he admits that he always got a kick out of sporting the CHOP-supplied stickers depicting cute, cuddly animals, and he loved getting armfuls of stuffed animals for the birthday and holidays spent in the Hospital.

His body shows the scars from the drastic amount of weight he gained and has now lost. He went through a nearly unbearable ordeal — and survived. “There are ICU doctors who see me today,” he says, “and really can’t believe it.”

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