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Hemophagocytic Lymphohistiocytosis

What is Hemophagocytic Lymphohistiocytosis ?

 

Hemophagocytic Lymphohistiocytosis (HLH) is a rare genetic disorder affecting the immune system. Those afflicted with the disorder have an immune system that does not respond to infections effectively or normally. Individuals with HLH fall into two categories: Primary / Familial Hemophagocytic Lymphohistiocytosis (FHL) or Secondary Hemophagocytic Lymphohistiocytosis. Those with FHL have a genetic predisposition to the disorder, whereas those with Secondary HLH acquire it from another underlying disorder.
 

 

 

 

Hemophagocytic Lymphohistiocytosis (HLH) is a rare genetic disorder affecting the immune system. Those afflicted with the disorder have an immune system that does not respond to infections effectively or normally. Individuals with HLH fall into two categories: Primary / Familial Hemophagocytic Lymphohistiocytosis (FHL) or Secondary Hemophagocytic Lymphohistiocytosis. Those with FHL have a genetic predisposition to the disorder, whereas those with Secondary HLH acquire it from another underlying disorder.
 

 

Acknowledgement of Hemophagocytic Lymphohistiocytosis has not been added yet.

The prevalence of HLH is estimated to occur in 1.2 cases per million, but like most rare diseases, it is difficult to estimate its true prevalence and incidence. FHL occurs in about 1 in 50,000 individuals. Secondary HLH is more common that FHL and both are often found in young infants and children but can present itself at any age.
 

Synonyms for Hemophagocytic Lymphohistiocytosis has not been added yet.

Primary / Familial Hemophagocytic Lymphohistiocytosis (FHL) is found in those individuals that have an altered or mutated form of certain genes. There are 4 genes that cause FHL identified. Those 4 genes are PRF1, UNC13D, STX11, and STXBP2. Normally, these genes play a critical role in the body’s immune response to an infection. But in FHL, these genes are mutated, meaning that the proteins they encode are either ineffective or absent and therefore the immune system can not do its job properly. The immune system cells begin to attack the body as opposed to the infection, and slowly these abnormal cells begin to accumulate leading to inflammation. The inflammation causes tissue destruction, and the cycle continues.

    Those who are diagnosed with Secondary Hemophagocytic Lymphohistiocytosis have no known genetic predisposition nor a family history of the disease. Rather, they typically have an underlying condition such as a bacterial, fungal, or viral infection, an autoimmune disease, or cancer. In these instances, the underlying disease or condition triggers a heightened or abnormal immune response in the body for reasons not yet fully understood. Like FHL, the immune cells attack healthy tissues and causes inflammation in Secondary HLH. Some conditions associated with Secondary HLH are Epstein-Barr virus, systemic lupus erythematosus, and non-Hodgkin lymphoma.

Patients with HLH have a variety of symptoms; many of which are nonspecific. Nonspecific symptoms are symptoms that are common among a number of ailments, making a correct diagnosis very tough. Symptoms may include persistent high fever, enlarged liver, jaundice, spleen and lymph nodes, skin rash, irritability and fatigues and coordination problems.
 

A correct diagnosis can only be made after a thorough clinical evaluation, examining patient’s medical history, and utilizing specialized tests. A diagnosis can be established if a genetic test has identified a mutation in one of the genes that cause FHL. A diagnosis can also be made if 5 out of the following 8 symptoms are present. These 8 symptoms are:

1) Persistent high fever

2) Enlarged spleen

3) Low number of blood cells

4) Elevated  fat molecules call triglycerides in the blood

5) Hemophagocytosis which is destruction of blood cells in the bone marrow

6) Low NK/immune cell activity

7) Ferritinemia which is high levels of a molecule that binds to iron

8) Elevated IL-2 receptors in the blood.

 

 

Diagnostic tests of Hemophagocytic Lymphohistiocytosis has not been added yet

The treatment process for HLH typically requires a team of specialists. The specific care depends on numerous factors such as the severity of symptoms, the age of onset and the underlying condition or cause. In Secondary HLH, it may be necessary to treat the underlying condition, potentially with antibiotics or antiviral medication. In some cases of HLH, treatment could include immunosuppressive drugs that target and destroy the hyperactive immune system cells. If a patient has not responded well to the first line treatment options, they may be recommended for allogeneic stem cell transplant, which is a procedure where healthy stem cells from a matched donor is transplanted to the patient. In 2018, the FDA approved Gamifant® (emapalumab), indicated for the treatment of pediatric and adult patients with FHL who have refractory, recurrent or progressive disease or cannot tolerate conventional HLH therapy.

 

HLH typically has a high mortality rate, including cases treated adequately. FHL prognosis is poor; those that do not receive treatment have a median survival of 2-6 months whereas of those who do receive treatment only 25% will survive 5 years. The prognosis for those with Secondary HLH varies and is correlated with the underlying condition.
 

Tips or Suggestions of Hemophagocytic Lymphohistiocytosis has not been added yet.
I need help! Created by Janelly
Last updated 15 Feb 2018, 12:27 AM

Posted by Janelly
15 Feb 2018, 12:27 AM

Hello there, my name is Janelly Im from Mexico, my 3 moths old son, has just been dignose with HLH. 

We are treating him in mexico but we are looking for change his treatmeant to the States, to Cincinnati Children's Hospital. Our insurence company just told us that they can't cover this disease, so we are looking for foundations or some economical help yo get to Cincinnati... do you know where or with who, can we find some help?

Thank you!

 Janelly

Alternative treament works for HLH Created by hogkev
Last updated 15 Mar 2013, 02:09 AM

Posted by hogkev
15 Mar 2013, 02:09 AM

2 to 3 Oregano oil 150mg softgel after meals, 2 to 3 times a day. 2 to 3 Olive Leaf Extract 750mg capsule after meals, 2 to 3 times a day. Need to stop chemo and taper off steroids. These herbs can lower the ferritin levels drastically and increase platelets counts. Please give a try.

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What you need to know about HLH, the rare disease linked to ESPN reporter Edward Aschoff's death 01/13/2020
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I am a mother of a 14 months old baby girl who was diagnosed with HLH in June of last year and received a Bone Marrow transplant in October. She is now back home and doing great. I would like to be...

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I need help!

Created by Janelly | Last updated 15 Feb 2018, 12:27 AM

Alternative treament works for HLH

Created by hogkev | Last updated 15 Mar 2013, 02:09 AM


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