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Most hemophagocytic lymphohistiocytosis (HLH) syndromes are inherited conditions caused by a faulty gene. In children with HLH, the immune system––the body’s defense against infections––produces too many active cells. These cells attack the patient’s own organs, such as the liver, brain, and bone marrow. Children with HLH may have symptoms such as fever, rash, jaundice, irritability, seizures, and swelling of the liver and spleen. They may also bruise or bleed easily. The severity of the condition depends on the type of underlying genetic error. The most severe form of HLH usually appears in the first few months of life. Children may also develop HLH when they are a few years older.
Chief, Bone Marrow Transplantation and Cellular Therapies
A pioneer in reduced-toxicity/intensity unrelated donor cord blood transplantation for inborn errors of immunity, Dr. Szabolcs is the first to demonstrate the feasibility of sequential lung and bone marrow transplantation from the same unrelated cadaveric donor.
If your child has been diagnosed with HLH, we want you to know that you are not alone – the Center for Rare Disease Therapy is here to help.
Our specialists have the expertise and experience to treat HLH across the spectrum of severity and in children of all ages. Because our doctors work as a team, your child can be seen by all of the specialists he or she needs in one visit. These may include specialists in the immune system, blood diseases, bone marrow or liver transplantation, genetic counseling, and child development.
We understand that the whole family is affected when a child has a rare disease. We see each family as our partner in caring for their child. We think the best approach to caring for a child with a rare disease emerges when we combine our depth of experience in rare diseases with your expertise in what’s best for your child.
We will talk with you about what we think is likely to happen with your child in the near future and about options we can suggest for treating and caring for your child. If surgery is an option for your child, we will help you understand what the surgery entails and what you may need to do to prepare for it. We will also talk with you about what you can do at home to care for your child and improve his or her quality of life. Please feel free to ask our specialists any questions you have about your child’s disease, treating and caring for your child, or anything else that is on your mind.
If the doctors order tests, you can expect to receive a phone call within 2 weeks to explain the results and discuss recommended next steps. Test results are also made available on Children's patient portal, myCHP, which is provided at no cost to patients, parents, and guardians.
To make an appointment with one of our specialists for your child with HLH, please call Jodie Vento at 412-692-7273 or send an email to firstname.lastname@example.org.
Learn how families are finding help and hope through the expertise of the Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC.
View patient stories>>
At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.
For an appointment, consultation, or patient referral with an expert at Children’s Hospital of Pittsburgh of UPMC for a child diagnosed with HLH, please contact:
Jodie Vento, MGC, LCGC
Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors (BOLT+BMT)
Study of Reduced-Intensity Conditioning In Patients With Non-Malignant Disorders Undergoing Umbilical Cord, Bone Marrow, or Peripheral Blood Stem Cell Transplantation
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
Children’s Hospital of Pittsburgh of UPMC
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.
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