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HLH is a disease of the immune system, often inherited through genes. It's known as a "primary immunodeficiency."
Primary immunodeficiency is a condition that makes the immune system not work as it should.
The body's immune system fights off infections and anything else it sees as foreign invaders to the body.
In HLH, the body makes too many immune cells. These immune cells see the body's organs as invaders.
The cells attack organs, including the:
HLH is a rare disease that affects about one in 50,000 births.
There are two main types of HLH.
Primary HLH means parents passed the gene on to their kids. Changes to different genes can also cause subtypes of HLH.
There are at least four genes that can cause primary HLH.
Secondary or acquired HLH happens because of another underlying condition. This type isn't genetic, but the effect on the body is the same.
Health problems that may cause acquired HLH include:
With primary HLH, people can carry a gene for HLH without the disease.
If both parents have a defective gene, there’s a:
There’s no difference in risk between males and females.
HLH symptoms often appear within the first few months or years of birth. Symptoms of HLH are much the same as those of other childhood illnesses, making it hard to diagnose. Some symptoms are:
HLH causes the overactive immune system to attack the body, causing organ damage.
Kids with this disease can have:
If HLH is causing nervous system problems in your child, you may notice symptoms such as:
If a doctor diagnosed your child with HLH, we want you to know you're not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children's Hospital of Pittsburgh is here to help.
To make an appointment for your child or refer a patient for HLH care, contact us by:
Your child’s doctor at the CRDT will ask about your child's medical history and symptoms.
Then they’ll use a blood test to help diagnose HLH.
If results are positive for HLH, your child might need further blood tests, including genetic testing. Genetic blood tests help doctors learn which genetic mutation is causing the disease or if there's no genetic cause.
The goal of treating HLH is to stop the immune system from attacking the body's organs. The doctor needs to identify and treat this disease quickly because of how fast it progresses.
Treatment may include medicines that suppress the immune system to control the damage it's doing to the body.
Treatments for HLH may include:
Some cases of HLH — mostly the type that's not genetic — go away after treatment and won't need further care.
If medicine doesn't resolve your child's genetic HLH, your doctor will offer other treatment options.
A bone marrow or cord blood transplant may cure your child's disease.
Before a bone marrow transplant, your child receives chemo to destroy the immune system. Surgeons then transplant healthy bone marrow into your child.
If your child also has severe lung damage, surgeons might perform a lung transplant at the same time. The lung tissue may potentially even be from the same donor.
The Hillman Center for Pediatric Transplant has the only tandem lung and bone marrow transplant program in the world.
We also pioneered a reduced-intensity bone marrow transplant program. The program helps reduce the negative effects a bone marrow or stem cell transplant has on the body's organs.
Because transplants are high-risk treatments, your child may need to take medicine for their entire life.
Chief, Blood and Marrow Transplantation and Cellular Therapies
Dr. Szabolcs cares for kids with rare immune disorders using "reduced-intensity" chemo and transplants.
Here's what you can expect when you come to us for your child's HLH consult and care.
Your first visit to the CRDT will take from 4 to 6 hours. Your child will have a complete assessment.
The doctor will make or confirm an HLH diagnosis and find out how much the disease has progressed.
Because we work as a team here at the center, other experts might see your child during your visit.
These may include specialists in:
Members of your child's HLH care team will talk with you about your next steps, such as:
If surgery might be a treatment option for your child's HLH, we'll discuss all the details. We'll let you know how you and your child can prepare.
By the end of your visit, you'll have a care plan tailored to your child's HLH disease and health needs. We'll also schedule a follow-up visit in three months.
You'll meet our nurse practitioner. You can contact them by phone or video conference if you have any questions or concerns before your next appointment.
Before you leave, please ask us about your child's HLH diagnosis, treatment, or anything else on your mind.
We will call within two weeks to discuss the test results and the next steps for your child's HLH care.
You can also find your child's test results if you signed up for MyCHP — Children's patient portal.
MyCHP lets you manage your child's health online. It's free to everyone treated at UPMC Children's Hospital of Pittsburgh and their loved ones.
When a child has a rare disease like hemophagocytic lymphohistiocytosis, it affects the whole family. At the CRDT, we see each family member as our partner.
The best care approach happens when we merge our HLH expertise with your knowledge of what's best for your child.
Learn how others are finding help and hope for their child’s rare disease through the expertise at UPMC Children’s.
View Center for Rare Disease Therapy patient stories »
At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.
For an appointment, consult, or referral, contact us:
We’ll be in touch within 2 business days.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With MyCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
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