What is hlh syndrome

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Questions sent to GARD may be posted here if the information could be helpful to others.

We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Familial hemophagocytic lymphohistiocytosis.

You can help advance rare disease research! This site is in-development and may not reflect the final version.

Preview the new GARD site. Other Names:. Summary Summary. Symptoms Symptoms. The signs and symptoms of hemophagocytic lymphohistiocytosis typically develop during the first months or years of life. However, in rare cases, affected people may not show symptoms until later in childhood or even into adulthood.

Do you have updated information on this disease? We want to hear from you. Cause Cause. There are inherited and non-inherited acquired causes of hemophagocytic lymphohistiocytosis HLH. Each subtype is caused by a change mutation in a different gene that helps regulate the immune system. Type 1 is due to a gene defect on chromosome 9. Changes in these genes lead to an overproduction of immune cells which results in an excessive immune response and the many signs and symptoms of familial HLH.

Inheritance Inheritance. Hemophagocytic lymphohistiocytosis HLH may be inherited or acquired due to non-genetic factors. Familial HLH is inherited in an autosomal recessive manner. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. Acquired HLH is not inherited. Diagnosis Diagnosis. A genetic test identifying a mutation in one of the genes involved with this condition 2.

At least five out of the following 8 signs or symptoms: Fever Enlarged spleen Cytopenia lower-than-normal number of blood cells Elevated levels of triglycerides or low levels of fibrinogen in the blood Hemophagocytosis the destruction of certain types of blood cells by histiocytes on bone marrow, spleen or lymph node biopsy Decreased or absent NK cell activity High levels of ferritin in the blood Elevated blood levels of CD25 a measure of prolonged immune cell activation.

Clinical genetic testing is available for the four genes known to cause familial hemophagocytic lymphohistiocytosis, types The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment. The best treatment options for hemophagocytic lymphohistiocytosis HLH are determined by a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. In acquired HLH, it is often necessary to treat the underlying condition. For example, antiobiotics or antiviral medications can be used to treat or prevent infections that may have triggered the exaggerated immune response.

Allogeneic hematopoietic cell transplantation is considered a cure for familial HLH. It is often recommended that people with confirmed or suspected familial HLH undergo this treatment as early in life as possible. FDA-approved indication: November , emapalumab Gamifant was approved for the treatment of adult and pediatric newborn and older patients with primary hemophagocytic lymphohistiocytosis HLH with refractory, recurrent, or progressive disease or intolerance of conventional HLH therapy.

Prognosis Prognosis. All forms of HLH, including cases treated adequately, may have a high mortality rate. It works like a key that allows the secreted death signals to enter inside a targeted abnormal cell, where the death signals can work. SH2D1A is responsible for a more specialized mechanism of killing, and also controls how the T cells themselves die. Treatment is very important for patients with HLH because the condition is life-threatening.

The treatments that doctors use suppress the immune system. Patients may receive other medications that suppress the immune system. Many patients must also have their immune systems replaced by receiving a hematopoetic blood or bone marrow stem cell transplant in order to be cured of HLH. Your doctor can tell you if this is the case for you or your child.

All rights reserved. HLH Center of Excellence. Navigate Contact Us. 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 also perform a lung transplant at this time. The Hillman Center for Pediatric Transplant has the only program in the world that offers tandem lung and bone marrow transplantation. 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 his or her entire life.

He's the first to prove the usefulness of sequential lung and bone marrow transplantation from the same unrelated deceased donor. If a doctor diagnosed your child with hemophagocytic lymphohistiocytosis, we want you to know you're not alone. The Center for Rare Disease Therapy is here to help. To make an appointment for your child or refer a patient for HLH care, contact us by:.

We'll ask the referring doctor to send your child's medical records so we can go through them before your visit. Your child will have a complete assessment. The doctor will make or confirm a hemophagocytic lymphohistiocytosis 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. 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. We'll also schedule a follow-up visit in 3 months.

You'll meet our nurse practitioner NP. If you have any questions or concerns before your next appointment, you can contact our NP by phone or video conference.

Before you leave, please feel free to ask us about your child's HLH diagnosis, treatment, or anything else on your mind. We will call within 2 weeks to discuss the test results and next steps for your child's HLH care. You can also find your child's test results if you signed up for my CHP — Children's patient portal. When a child has a rare disease like hemophagocytic lymphohistiocytosis, it affects the whole family.

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. Children's Hospital's main campus is located in the Lawrenceville neighborhood.

Our main hospital address is:. Pittsburgh, PA In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.