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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hemophagocytic lymphohistiocytosis


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Other Names for this Disease
  • Familial erythrophagocytic lymphohistiocytosis
  • Familial hemophagocytic lymphohistiocytosis
  • Familial histiocytic reticulosis
  • Hemophagocytic lymphohistiocytosis familial -1
  • HPLH1
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Your Question

What is HLH and what are the symptoms of this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is hemophagocytic lymphohistiocytosis?

Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal condition in which certain white blood cells (histiocytes and lymphocytes) build up in organs including the skin, spleen, and liver, and destroy other blood cells. This causes fever and damages the liver and spleen, resulting in enlargement of these organs. HLH may be inherited or it may be caused by certain conditions or diseases including infections and immunodeficiency (inability of the body to fight infections). It most commonly affects young infants and children.[1][2] Treatment includes antibiotics or antiviral medications to treat or prevent infections, and chemotherapy and immunotherapy prior to allogeneic hematopoietic cell transplantation.[3]
Last updated: 11/26/2012

Are there different forms of hemophagocytic lymphohistiocytosis?

Yes. There are two forms of HLH, familial HLH and acquired HLH. Familial HLH is passed through families in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance. Familial HLH accounts for about 25% of HLH cases. Acquired HLH is not inherited and is associated with infections, transplantation, cancers, rheumatologic disorders, and treatment of a variety of conditions including cancer and HIV/AIDS. Infections are the most common trigger for both forms of HLH.[4]
Last updated: 9/4/2008

What are the signs and symptoms of hemophagocytic lymphohistiocytosis?

Common signs and symptoms of HLH include fever, enlarged spleen and liver, low blood cell counts, and the destruction of blood cells by histiocytes.[4][1] Other symptoms may include rash, enlarged lymph nodes, respiratory symptoms, vomiting, diarrhea, abdominal pain, irritability, and failure to thrive. The rash may come and go in association with high fevers and may appear as red skin patches that are flat and/or raised and firm; or flat, red-to-purplish blood-filled spots. The respiratory symptoms range in severity from mild cough to acute respiratory distress syndrome.[4]

Neurologic symptoms may also occur. These can include irritability, seizures, cranial nerve palsies, ataxia, nystagmus, walking disturbances, vision problems, paralysis, delayed psychomotor development, and signs of increased intracranial pressure.[4] Neurologic symptoms are a common feature of disease relapse.[4]

Last updated: 11/26/2012

How might hemophagocytic lymphohistiocytosis be treated?

Optimal treatment options are determined by a number of factors, including disease severity, age of onset, presence of familial disease, and associated conditions. The goal of treatment is to suppress inflammation and induce remission. Complete remission refers to the disappearance of the signs and symptoms of HLH. In some patients HLH recurs and additional treatment may be required.[4]

The Histiocytosis Association has information on the treatment of this condition on its Web site which can be viewed by clicking here.
Last updated: 11/26/2012

References