HLH: A Simple Description

In order to properly discuss or write about some of the more complicated aspects of this disease, I feel I need to try and post as simple an explanation of it as possible. It’s not as simple as I would like because it’s such a complicated set of problems, but I’ve tried to include the basic facts everyone interested should know.

Overview:

  • HLH is a rare disorder of the immune system. It is also commonly referred to as a disease. It’s rarity is currently understood to be approximately 1 in 1 million children as many as one in 50,000 children, with recent studies suggesting it is even more common than previously believed.
  • There are two forms of the disease. The primary form is FHL, also known as Familial HLH. The secondary form is simply known as HLH. Both forms are treated in the same manner medically, with the exception of the additional need for a Bone Marrow or Stem Cell transplant to cure the primary form.

Description:

  • When the body has an infection, certain specialized cells activate and fight off the infection. These cells are part of our Immune System. Among these cells are T-Cells and Histiocytes, which when activated cause an inflammatory reaction in the body.
  • In most people when an infection(a cold, flu, other virus or a bacterial infection for example) has been eliminated, the inflammatory reaction that helps eliminate them is turned off and the Immune System returns to it’s “Steady State” or normal state. In HLH patients, the inflammatory reaction does not turn off and causes the symptoms of HLH.
  • Our Bone Marrow produces our blood cells, including infection fighting cells. As the inflammation persists abnormally, the Histiocyte cells attack or “eat” the other blood cells in the bone marrow, causing a severe drop in cell counts. This means that the patient is exposed to normal infections, but has no way to fight those infections off.
  • Typical symptoms of HLH itself can include: Fever, Pallor, Jaundice, Liver and Spleen enlargement, and Neurological symptoms such as irritability and seizures. Not all symptoms appear in all patients initially.
  • Because symptoms vary widely and can be associated with other infections, HLH is very difficult to diagnose. It is an especially dangerous disease undiagnosed, with a fatality rate of 100% over a course of approximately 2 months. 100% of patients will die in 2 months if untreated.
  • Patients have a better chance of survival of this disease the earlier they are diagnosed and treated. The longer the disease continues, the more damage the body does to itself. Because the treatment itself is hard on the body and the disease often affects young children, if the body is too badly damaged, recovery can be difficult even when treated properly.

Treatment:

  • HLH is currently treated with a protocol or treatment program called HLH-2004. This program was created by an international team of doctors in 2004 to attempt to address the poor survival rates of patients with HLH. Prior to that point, a program known as HLH-94 was used.
  • HLH-2004 involves a chemotherapy regimen (a set medicines given to the patient) to stop or suppress the inflammation in the body, bringing the disease under control.
  • Once the disease is under control — once the immune system has “cooled off” — symptoms can begin to fade and the patient’s immediate danger from HLH itself is lessened. The patient is still at very high risk from normal infections due to the damaged immune system.
  • Infection presents the greatest risk to patients with HLH after it has been diagnosed and treated.
  • In the primary form of HLH, known as FHL, remission is only temporary. A Bone Marrow or Stem Cell transplantation is required for long term survival.
  • In the secondary form of HLH, the disease can be permanently resolved with the HLH-2004 program in some cases.

The question many parents want an answer to most, “what are our chances”,  is very hard to answer. I know I spent a lot of time trying.

That answer is there is no easy answer. It depends strongly on how early diagnosis and treatment took place and what underlying conditions are present. In short: your doctor should be the one to even try to answer that because it really is dependent on the unique situation of each child.

More information is available at Histiocyte.org as a starting point. I’ve posted articles I’ve found to be useful in the Links section above as well.

119 thoughts on “HLH: A Simple Description

  1. Last night I lost my best friend to HLH. she has had a long fight these past 2 years. She received her Stem Cell Transplant about a month ago because no one was a match for bone marrow, then after GvH Disease came, along with another infection in her port. It was decided to put her on dialysis and intubate her to help keep her strong. In the end all of Megan’s organs started to fail, he blood pressure got so low the dialysis machine couldn’t support her. Her heart was beating strong though. She was a fighter. I will never forget me best friend her 22 years of life was way to short and she had a long life to live. I hope one day we find a cure for this disease and not have another person suffer through such a long and hard process
    I love you.
    Megan
    7/12/2013
    7:17 PM

    • I’m terribly sorry to hear that, Megan. Hopefully in time and with further medical advances and greater awareness, fewer people will lose their fight with HLH.

      Evan

  2. my name is shiva i had a sister her name is akshara she is 7yr old she is suffering.with fever from 3 weeks all the tests were done to her .doctors finally told that they are thinking that it is hlh disease .what we want to do pls reply fastly

  3. I was 36 weeks pregnant on July 31, 2013 and had a fever that was 102. I am 33 years old and have a 14 year old and a 7 year old. My baby boy Jaxsen was born at 12:56 am on August 1 due to my doctor thinking that I had a bowel rupture because of the fever and the pain I was in. He was healthy other than a little spot on his lung that they treated with antibiotics. He had a little oxygen put on him due to his breathing a little difficult but on day 3 he was free of everything and eating. On day 4 he started running a fever, and day 6 he was rushed to Children’s Hospital of the King’s Daughters. He was so sick that he stopped breathing and they had to inibate him. He received platelets, blood, plasma, and clotting factors and had 2 pic lines tried in his little leg that almost caused him to bleed to death. Nothing was helping him get better and on day 10 they diagnosed him with familial HLH. He was given steriods and chemotherapy but the damage done to his little liver was too much. On August 13, 2013 at 2:26 am, Jaxsen passed away during his second dialysis surgery. This is a horrible, horrible disease that no one should have to go through…my poor baby had iv’s in his head, hand, had 2 pic lines tried in his leg, a central line in his chest, dialysis line in his belly that failed, and bled to death from the dialysis put in his groin area and his neck. The only thing that I am glad of from reading everyones sad stories is that Jaxsen did not have a lifetime of suffering. I am scared now that my other son who is 7 may have this…when he was 1.5 years old, he had a fever for 6 weeks and is ALWAYS sick..he was sick with a 104 temp for 3 days 4 days before I got sick and had the baby. Pray for us so that we can get tested and have a negative result.
    Melanie

  4. I didn’t realize how many people have been touched by this disease. I’m here on the couch with tears running down my face thinking of how lucky I am.Dave and I had only known each other for 8 months, and had moved in together for 3. A few days before Christmas 2008 he got a high fever. Many of the stories I’ve read are similar to Dave’s , it took months to diagnose him. They treated him with chemo in the end and has been HLH free since summer of 2009. Let’s hope it stays that way! Because of the chemo the doctors said he would not be able to have kids, here we are today with two healthy sons! For everyone out there stay strong! (the doctors told us it won’t come back, but does anyone know where it did? It was not genetically linked)

  5. A few days into our 16 year old daughter’s senior year of high school, she was diagnosed with HLH two days ago. None of us has ever heard of HLH. The blood tests to find out if hers is Familial were done, so we now wait several weeks for those results. She will have surgery this week to have a chemo port put in and will have a spinal tap done while she is under anesthesia. She will have her first chemo session the same day as the surgery. Although this has been very overwhelming and scary, we are grateful that the diagnosis was made within a few weeks of her becoming ill and that it wasn’t dragged on for months before the doctor’s figured it out. No parent ever expects their child will receive such a diagnosis or needs to have chemo, so this journey has been overwhelming. We know we have a lot of support with family, friends, school, and medical personnel. For now, we pray and educate ourselves as best we can. Are there any teens out there that can share their story with us?

    • My son was diagnosed with mono on Labor Day and he passed on September 8 – the doctors say it was HLH – we have to wait for the tests to come back to confirm. He was 16 years old entering his junior year. He was so healthy – 5’10 173 lbs strong and athletic. This disease consumed HS body in a matter of days. We are devastated – I hope and pray all gets well for your daughter, this is ver difficult to understand.

  6. My son is 32 yrs old
    He wad diagnose wth lynphoma cancer in feb 2013
    He has been in and of the hospitall evry 2 wks
    Could even get his chemo on time ever
    And today sept 13, 2013
    Th e dr’s say he has a rare desease HLH
    After about 1000 tests. God only knows
    Hiw much blood they tooken out and bone marrow tests and after all this tgey just niw telling him he could die

    • My prayers and best wishes go out to you, your son and your family, Martina. Do you mind if I ask what lymphoma your son has? The reason I ask is that we have a 13 year old son with Cutaneous T Cell Lymphoma and our 17 year old daughter with HLH. Our pediatric hematologist-oncologist says there is no connection between our kids’ diseases. Yes, it seems like thousands of tests are done before getting the HLH diagnosis and it is overwhelming to get the diagnosis. However, in my opinion, it is better to have the diagnosis, so the condition can be treated before it is too late. Good luck to your son with his treatment.

  7. Traci,
    My mom passed away from HLH 3 weeks ago. She was 62 years old. She had started taking Humira for Chron’s disease as well just a couple months prior to her first fever. They were not able to determine the trigger. Humira was sited in her autopsy as the likely cause.

    Good luck to you and your husband and thank you for sharing your experience. We need to learn all that we can and raise awareness about this disease so that more lives can be saved.

    All the best,
    Ann

  8. Our 16 year old son was diagnosed with mono on Labor Day. We went home to rest and drink fluids. The next day he was not feeling well his heart was beating so fast any his fever would not go down. I took him to the doctor again. His liver enzymes were elevated so he got some fluids through IV and had a sonogram to check organs. Everything was “ok” so we wet home for another miserable night. Fever would not go down and his heart kept working so hard. On Wednesday at 6:00 pm we took him to emergency room, he was admitted to hospital. On Thursday he was airlifted to Children’s Hospital in Dallas. His body was not responding to any treatment. The was the last day we talked to him. He was sedated and quickly machines begin to do the work…..he never had a chance. He went to heaven on Sunday morning. He was so healthy and full of life. A strong handsome boy that stood 5’10 and weighed 173, consumed by this unmerciful disease. We are waiting for results to confirm HLH, he was not granted any time for treatment. We are devastated and heartbroken.

    • I am crying for you and your family and I can’t begin to understand your loss. There are no words, but to say I am sorry and you will be in my prayers. Yes, HLH strikes fast and hard. Please know that there are others affected by HLH who wish you peace.

    • Do you feel Dallas Children did all they could to help him? I have a friend of a friend with a son there right now. He has been diagnosed with HLH and been there little over a week. What’s ur thoughts is he in the right place? Do you feel they did all they could and were on top of his diagnoses. Thank you so much. Im so sorry for your loss.

  9. I found this site looking for a explanation of HLH – my friends baby girl died this morning from this disease – only 19 days old – truly heart-breaking

    • I lost my 17 month old son on January 11, 2014. He had a fever of 104 for 9 days straight. He had a bone marrow aspiration to diagnose Hlh. We stayed in the hospital 11 days before he passed. Rest in peace my baby boy TRISTIN M. LAWRENCE!

  10. It really breaks my heart reading the description of this disease. My friend’s son, who is 6 years old was diagnosed with this horrible disease 2 weeks ago, yesterday he had his chemo and we are all hoping that he can pass through this. He was transfered from a private hospital to a local public hospital due to financial incapabilities of the family. Health services are expensive in the Philippines. They say that if the chemo fail, they need to get medicines from Switzerland. It would cost them furtune. Im praying that he may pass this disease.

  11. My heart goes out to all of you. My son came down with HLH at age 23 while in the Air Force. It took a week before the Air Force would finally accept the fact that he didn’t have the flu. Then he called me and he said he was in the hospital and would have gall bladder surgery. I flew out to Texas to be with him. Another week went by while he continued to have high fevers, belly pain, and low oxygen. They finally took out his appendix and his gall bladder. and it didn’t help. It was then that I called the base commander crying and suggested that it was time to move him out of the smaller hospital into a bigger hospital.. That night he was taken by ambulance for a 4 hour trip to San Antonio to Brooks Army Medical Center. After another week of intensive care and seeing 40 different doctors they diagnosed HLH caused by EBV. He was very lucky because the HLH only affected his liver. His Ferritin level was 161,000 which was the highest that they had ever seen. He was in complete remission after only steroids and 6 weeks of Etoposide Chemo. He has been in remission for over 2 years now and is still in the Air Force. My question is how long do you have to be in remission before you can stop worrying about it coming back.?Will that time ever come?

  12. HLH is terrible and took my mother at the early age of 63.. she fought and fought after one of the best Hospitals in the US told her it was cancer,,, when they discovered it was HLH. it was to late to do anything. We watched my mom who was very heathy be taken from us after 4 months of fighting this.. To all, this is rare in seniors but it copies Non Hodgkins or T CANCER,,,,, I WISH WE KNOW TO LOOK FOR HLH SOONER… God Bless you all for the journey you are on, take care..

    • I`m sorry Richard, the same thing happened to my 69 year old fun loving aunt. They misdiagnosed a tumour in her uterus, pierced her uterus while trying to get a biopsy and treated her with paracetomol saying it was an infection for two lost week, before they could biopsy again, to control her temperature. It turned out to be lymphoma and HLH but they went to town treating the Lymphoma and the HLH took her. It is an evil disease that does happened to adults but there isn`t enough awareness out there saying so. We as a family have lost our core, still cant believe it. Wishing you love and strength xx

    • yeah, there isn’t enough information on this disease!! it isnt in the school books!! and im a medical student who just lost an uncle to this disease while the doctors thought it was leukemia. its insane how rapid this disease is. just 2 months ago he was happy, healthy and smiling. im sorry for your loss hun but just know your mom is still there, just in a different way.

    • Richard, we found out my mom had HLH the day before she died from it. She was a similar age and had Celiac disease. They were not looking for HLH until blood samples were sent to another hospital and they found indications. She was in hospital for 2 months and apparently doing “better” to the point she was almost discharged. She was transferred to a different hospital with specialists that finally diagnosed her condition but she could not be helped. I also wish we knew sooner and still have a hard time with what happened. Mom was a great nurse and its ironic to have had to be part of the decision to go the palliative route after she had looked after so many patients in the end stages of life. Wishing everyone well who comes to read this

  13. We have an 18 year old child named Michael who was diagnosed with mono. For days we treated him with fluids and rest. 15 days went by and no improvement. we took him to jersey shore hospital in Neptune,New Jersey . they diagnosed Michael quickly and correctly, air lifted him to Children’s Hospital in Philadelphia, where they are treating him with HLH. so far he has responded well with their superb team of doctors. we are still early in his recovery but i thank god for the very fine team of doctors in both facilities, we are still praying for a full recovery. hopefully with everyone’s prayers and the excellent care Michael has been getting, he pulls through this nightmare we are all going through. Sorry to hear about all the people that were diagnosed to late, and that did not make it. this is a disease you have to catch right away, do not hesitate.

  14. Good job, Dad! Very nicely put..Michael is strong and has such a level head about him. He such a good kid..I was blessed with a great brother! I know he will fight this..he is surrounded with love and affection. And yes, I have never seen a better group of doctors and nurses. We love you Mikey, and we are all here with you through it all..

    • IT S TEARING ME UP TO READ ABOUT MIKEY ON THE WEB WE ALL WANT TO HEAR THOSE DRUMS AGAIN ILL KEEP PRAYING FOR THAT KID TRY TO BE STRONG BILLY JANET AND MISSY

  15. From all of mickey s friends praying for him in silence for his recovery . We absolutely have complete faith that he will pull through.Stay strong kind warrior.Stay strong mom and dad.

  16. This Is Mikeys Dad, Mikey fought to the very last minute of his life, was the worst 18 days of our lives, I watched for 18 days nurses , doctors, do there very best.We had all support from our family and friends but in the long run Mikey could not overcome that evil demon that was inside him.Mikey passed on Good Friday April 18, 2014. Im at a loss of words,hearts are broken and my son is gone, this disease needs alot of attention, I only can hope that my son is in a better place because what he went through no human being should have to go through, please someone out there find a cure for this.Mikey you left behind alot of people who love you,I wish I could have helped,my heart aches for anyone who is going through this. Mikey Mom and Dad love you rest in peace see you soon, love Dad.

  17. Hi im currently recovering from secondary HLH disease im 39 yrs old and twice nearly died .now im very concerned of it coming back again and then needing a stem cell transplant has anyone heard of secondary HLH reappearing? Regards ken

    • Hi Ken.
      Sorry to hear about your diagnosis! I am not a doctor, but I have not heard of secondary HLH reappearing in adults. I would encourage you to express your concerns to your doctors, and reach out to get other opinions as well if you feel it would be helpful. You could also contact Histio.org, they may be able to make a recommendation for who could better answer your questions.
      Best, Evan

  18. Hi Evan,
    My baby boy,was diagnosed HLH when he was 11 weeks old. Going through HLH Protocol 2004 at 5 months old and had haploid stemcell transplant from my wife blood.yet it is saďdening that the baby immuned cell rejected donor cells

  19. Hi, I have a grandson whom was born prematurly. While pregnant my daughter in law had to have three blood transfusions because her level was very low. Well when my grandson was born he had to stay in the hospital nick u because of early delivery. I did notice while he was there he shook alot like one arm getting slightly stiff. The Dr’s said his sugars were low and that they were not being absorbed so they kept him almost a month. He finally came home but still noticed his arm stiffening at times. One day after feeding and burping he was sleeping. At some point he was gaging on milk and his father brought him to me. He was ok so I asked for a change of cloths and after I changed him he got very stiff on one side only and stopped breathing. He was taken by ambulance.
    Well they said he had bleeding in the brain and had to relieve the pressure by surgery. Well after 2 surgeries they are calling this shaken baby. But there is no way this is possible because he has very loving parents and grand parents.
    I have read that HLH can be confused with shaken baby. Is this so. And how to convince Dr’s to try other tests.

    • Hi Katt,

      I’m very sorry to hear about your Grandsons struggle. I have not heard HLH confused with shaken baby, but I’m not a doctor so I can’t say for sure the two conditions don’t share some symptoms. HLH is very hard to diagnose and part of the danger is that a child could be misdiagnosed and be unable to recover if treatment is not started, since it takes very little time to do damage if untreated.
      I found this reference to shaken baby and HLH that you could read and consider:

      http://www.newscientist.com/article/dn3794-blood-disease-symptoms-resemble-child-abuse.html

      And, you may be able to find out more information by contacting a hospital that specializes in HLH, such as CCH:

      http://www.cincinnatichildrens.org/service/h/hlh/default/

      or writing to http://histio.org for their advice, they may know more about such a connection than I do.

      With regard to testing, the only way I’m aware of to be certain is with genetic testing, however there can be indicators that are found in common tests. My daughter had a combination of elevated Ferritin levels and low Platelets which lead our doctors to do more testing and diagnose her with HLH.

      Wishing you and your family the best.

  20. Hi everyone i had a baby girl on the 28.07.2014 for the fist week or so she was fine then her colour went a bit yellow she would not wake up much either i just thought she was a sleepy baby she didn’t like having her nappy changed or having a bath she would get very irritable then on friday 8/8/2014 she wouldn’t wake up for feeds all through the night as well i would try to feed her but she would go to sleep saturday afternoon she had a temperature And was breathing really fast her eyes started rolling i called doctors they sent ambulance they took her to hospital when doctors checked her they said she might have an infection Her tummy had swollen her liver and spleen had enlarged they took some bloods and did a lumber puncture put her on antibiotics to cover her if she had an infection the blood tests showed she had low haemoglobin levels low platelets Low oxygen her blood was not clotting etc she was deteriorating on monday they moved her to another hospital where they had specialist peadatritions They thought she might have an infection as well did more blood tests which showed her lactate levels were sky high She had swollen so much i couldn’t recognise her by 2am they told me she wasn’t going to make it but she survived the night in the morning doctors decided to take a bone marrow sample to see if they could get a answer by evening they told us she had hlh a very rare disease and they can treat her starting with cemo and then a bone marrow transplant I thanked god thinking she was going to be ok now they have a diagnosis they decided to put her on dialysis to bring her acid levels down and started her on medication gradually her acid levels started coming down and all her other numbers started improving they started to ween her slowly on to the cemo starting with 25 percent then 50 then 75 etc on the 21/8/2014 they had to change the filter on the dialysis machine so the doctors decided they would try and get an MRI scan done and then put her back on the dialysis machine but they couldnt get the MRI By evening we found out she had got an infection they put her on antibiotics they thought they would try and get the scan done the next day but it didnt happen again by then my baby had swollen even more she was getting too much fluid in and nothing was coming out they put her back on dialysis But things started deteriorating on sunday 24/8/2014 the doctors told us the next 24 hours are critical by then i knew my baby wouldnt make it . It was heart wrenching to see her like that covered in canulas and tubes everywhere on the morning of 25/8/2014 at 5.13 my baby’s heart finally gave in she left us all i just cant get over how quickly it all happened why did it happen to me was it real or did i dream it all i just want my beautiful baby .this is such a horrid and rare disease Most babies die without even being diagnosed .i want to know how to find out if this is hereditary How can i get my other children tested especially after reading everyones stories i can see that it can happen at any age .

  21. I’ve always felt so alone after being diagnosed with HLH in September 2006 at the age of 46 yrs. It took more than two weeks to be diagnosed and transfered to the Hammersmith Hospital in London. I spent six months in total in hospital and I too almost lost my life twice. HLH as affected my life greatly and I am no longer the person I used to be. 2014 and I still go to the Hammersmith Hospital to have my bloods checked. I have a partcially folded lung now and also attend clinic to help. I am prone to chest infections.
    Thank you, all of you. It’s not easy to put down your thoughts. I have cried reading your comments and smiled for those who are happily still among us. I will check out the website. I have started writing about the lead up to my illness, my stay in hospital and when I left. HLH once it touches your life you are never able to forget it.
    Again, thank you everyone.

  22. Hi all I feel very happy to have found this website. My mom was diagnosed with probable HLH about 2 months ago and she passed away October 3,2014. My mom was 75 years old very healthy, had no chronic conditions and all of a sudden she became Ill. Many tests were done to her, she was hospitalized twice and we didn’t know the reason why she was sick. All we knew was that she had pancytopenia. After being discharged from the hospital her oncologist gave us the probable diagnosis of HLH. He wanted more tests to be done, but my mom refused she was tired of all the tests. She also refused chemo. My mom was put on hospice and she passed. I really hate HLH is so hard to diagnose and doctors are not familiar with it. I really wish there can be better treatment options for this horrible disease besides steroids and chemo. I miss my mom terribly she was everything to me. My mission now is to advocate and bring awareness to to HLH. My prayers are with all of you, God bless you!

    • God bless you and your family. My father passed October 6, 2014, at USC Norris after 2 mos of inconclusive test results at 2 other facilities. He was transferred to Norris and they confirmed HLH. What has helped me and my mother is our faith. I believe my father’s date to be in heaven was chosen and this disease label was the excuse. Just know, “God knew us before he put us in our mother’s womb”. He knows all. God bless you!

  23. Thank you for this information, my cousin, Lacey Jamieson, was diagnosed with HLH last year, on the day that she found out what she had, she died

  24. I am a 35 year old female who contracted Secondary H.L.H due to an infectious tick bite.I can not find any information regarding the aftermath of H.L.H. During my 6 days in ICU most of which I don’t remember my fever spiked to 106 & death was not far.I’ve been home since June 13, of this year & on September 8th my hair started falling out now with 75% of it gone my drs just say it must be from H.L.H but they don’t know for sure. If anyone knows where I can find a book it would be greatly appreciated.I’m @ dulybird@gmail.com. Thank You. Staci Duly.

  25. Hello my fellow HLH partners. My name is Jessica. And my wonderful DAD just passed away from HLH. On Dec 01 2014. He was 63. Such a strong guy. He had battled cancer about ten years ago. Fought it and won. Wasn’t easy at all. Then just a few days ago he was running fevers and had fell hit his head. And landed in the hospital. He was running fevers, high fevers for probably a week. Was a very strong willed guy. So was not wanting to tell a lot of his family members, his daughters!! He was in hospital for anwhile like a month. Was getting better then worse. My older sister and her husband thank God for them were out in Arizona to be with him. Called my younger sister and myself. And said that we needed. To come out as soon as possible. When we got to the hospital. All the wonderful staff at the VA in Phoenix. Told us that dad had h l h . We they tried everything. Splitting up the chemo. Steroids everything. His body was just too tired. He had gone through some much. I miss my DAD so much. And I know that he is looking down on me and all of you praying for the best.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s