LIAM'S LIGHTHOUSE FOUNDATION
  • Home
  • Get Involved
    • Be The Match
    • Events & Campaigns >
      • Liam's Lighthouse Foundation Annual Golf Tournament
      • 5K to Fight Histio
      • Light The Way Program
    • Subscribe
    • Contact Us
  • About Us
    • Our Mission
    • Do you know Histio? >
      • What is HLH?
      • INTO-HLH
      • Other Histiocytic Disorders
      • Important Links
    • Liam's Story
    • Board Members/Volunteers
  • Donate
    • General Donations

Hemophagocytic Lymphohistiocytosis
HEMO•PHA•GO•CY•TIC    LYMPH•O•HIS•TI•O•CY•TO•SIS

What Is HLH?

Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency.  It affects people of all ages and ethnic groups.  Common symptoms are fevers, enlarged spleen, low blood counts and liver abnormalities.  At least half of the patients with HLH will also experience inflammation of the brain which can lead to a wide variety of neurologic problems.
HLH has traditionally been divided into genetic forms (Familial HLH or FHLH) or acquired forms which may be associated with infections, autoimmune conditions or cancer.  To date, 9 genetic causes of FHLH have been discovered, accounting for about 50% of childhood HLH cases in the U.S.A.  FHLH can be inherited in either an autosomal recessive manner (where both parents are carriers) or in an x-linked manner affecting only males.  HLH qualifies as an orphan or rare disease since there is little government funding for much needed research. HLH is considered to be rare, but specific incidence is unknown.

The symptoms of HLH result from an overactive and poorly controlled immune response involving T lymphocytes and macrophages.  This abnormally intense immune response results in prolonged and highly elevated levels of cytokines (molecules which, in minute quantities, normally regulate immune functions).  This so-called "hypercytokinemia" is potentially damaging to all the major vital organs.  The hallmark of hypercytokinemia is Hemophagocytosis, the process for which the disorder is named. 
Hemophagocytosis is an abnormal consumption of blood cells by macrophages which are turned on by the high cytokine levels, resulting in the low blood counts.
The onset of FHL is usually early in life, and a permanent cure can only be achieved through a bone marrow transplant. In some ways, histiocytosis is similar to cancer, and has historically been treated by oncologists with chemotherapy and steroids to try and quiet the disease, ultimately needing a bone marrow transplant, but it is not cancer.  

While some patients experience HLH symptoms which can wax and wane or respond well to steroids initially, many patients suffer from progressive illness which can lead to death if appropriate immune suppressive treatment is not begun in time.  Ultimately, children and young adults who have HLH on the basis of known genetic defects will require a hematopoietic cells transplant (BMT) to cure them.  Patients without a known genetic cause who experience progressive HLH or recurrent episodes are also considered for BMT.  At present, with the more widespread use of Reduced Intensity Conditioning (RIC) protocols accompanied by careful selection of donor and stem cell product to be used - long term survival rates after HCT have improved from 50-70% up to 90% in experienced HCT centers. 

The Doctors at Cincinnati Children's Hospital treat more cases of HLH each year than any other pediatric hospital in the world.
Picture
Sobi believes every disease and every patient is worth a cure. That’s why they work tirelessly to bring treatments to people with a rare and severe diagnosis. Such treatments are referred to as “orphan drugs,” intended to treat diseases so rare that companies would be reluctant to develop them under normal market conditions. Sobi is the manufacturer of Gamifant, the first and only Food and Drug Administration (FDA)-approved treatment for certain patients with primary HLH. 

Learn More

Symptoms of HLH

* RASH, PALLOR (paleness) 

* JAUNDICE 

* RECURRING HIGH FEVER 

* LIVER AND SPLEEN ENLARGEMENT 

* NEUROLOGICAL SYMPTOMS (including irritability and seizures) 

* SEVERE DELCINE OF BLOOD CELL COUNTS (RBC'S, WBC'S, and PLATELETS) 

* BONE MARROW BIOPSY revealing PHAGOCYTOSIS 
(histiocytes eating other blood cells) 


Other Sources:1.  Histiocytosis Association
2.  Sung L, King SM Carcao M, et al. Adverse oucomes in primary hemophagocytic lymphohistiocytosis. J. Pediatr Hematol Oncol. Oct 2002;24 (7): 550-4
Picture

WHAT IS Gamifant®?

Gamifant® is the first FDA-approved treatment specifically developed for primary hemophagocytic lymphohistiocytosis (HLH), targeting interferon gamma (IFNγ) overexpression.
Gamifant® (emapalumab-lzsg) and primary hemophagocytic lymphohistiocytosis (HLH) from Gamifant on Vimeo.

VISIT Gamifant® Cares WEBSITE
​for more support
VISIT Gamifant® WEBSITE
​TO LEARN MORE

Other Histiocytic Disorders

Langerhan's Cell Histiocytosis (LCH)
Juvenile Xanthogranuloma (JXG)
Eosinophilic Granuloma
Erdheim-Chester Disease
Rosai Dorfman

References

HLH information from Cincinnati Children's Hospital
Bone Marrow Transplants for HLH
About Bone Marrow Transplants / Stem Cell Transplants
HLH-2004 Treatment Protocol
​light - house, (n): a tower with a powerful light positioned at some important point to serve as a guide.

Find Us At

Subscribe to Emails
Picture

Liam's Lighthouse Foundation  -  5818 Charlois Court | Colorado Springs, CO 80922-2226 USA
 EIN #  27-1309152
The content on this site is not intended to be a substitute for professional medical advice, diagnosis or treatment.
  • Home
  • Get Involved
    • Be The Match
    • Events & Campaigns >
      • Liam's Lighthouse Foundation Annual Golf Tournament
      • 5K to Fight Histio
      • Light The Way Program
    • Subscribe
    • Contact Us
  • About Us
    • Our Mission
    • Do you know Histio? >
      • What is HLH?
      • INTO-HLH
      • Other Histiocytic Disorders
      • Important Links
    • Liam's Story
    • Board Members/Volunteers
  • Donate
    • General Donations