How Cincinnati Children’s Is Diagnosing HLH

Posted in HLH

Writing Diagnosis With Chalk On A Blackboard.

At Cincinnati Children’s Hospital, the HLH Center of Excellence is committed to getting children diagnosed with hemophagocytic lymphohistiocytosis or HLH as quickly as possible. Unfortunately, this task is often harder than expected due to the fact that HLH can look a lot like a number of other conditions.  For this reason, HLH often goes overlooked for some time causing the treatment of an HLH patient to become even more urgent.

The symptoms all doctors and parents should be looking for when evaluating someone for HLH include:  persistent fevers, rash, enlarged liver, enlarged spleen, enlarged lymph nodes, anemia, low platelets, low white blood cells, jaundice, hepatitis, liver failure, respiratory issues, seizures, and altered mental functions.  Having any number of these conditions does not mean you are dealing with HLH, but understanding that they may point toward HLH is imperative.

To properly diagnose HLH, Cincinnati Children’s Hospital recommends proper blood tests that indicate blood cell counts, liver function numbers, and immune system activation markers including ferritin and soluble IL-2 receptor levels.  It is indicated that doctors may also perform additional testing like X-rays, CT scans, ultrasounds, and MRIs so that they can look for infections that can be related to HLH.  A patient may even undergo specialized blood tests designed to rapidly screen for the genetic causes of HLH.

Due to the discouraging fact that HLH often gets misdiagnosed or overlooked, it’s so important to continue educating pediatricians and parents to look for this life-threatening disorder.  By focusing its efforts on a mission centered on education, the HLH Center of Excellence at Cincinnati Children’s Hospital is getting the word out.  Thanks to educational efforts like professional lectures, published articles in professional journals,  and the annual HLH conference held at the hospital, Cincinnati Children’s has been able to increase HLH awareness.

Cincinnati Children’s is also focused on increasing HLH awareness via recruiting and training new physicians in this specific area of study.  As the next generation of HLH specialists enters the field, the center intends to build a team by encouraging fellows to focus on HLH research, by competitively recruiting, and by supplying educational sessions at professional society meetings.  All of these efforts are important to ensuring the continued research and development of the most-effective diagnosis and treatment solutions for those suffering from HLH.

The HLH Center of Excellence also partakes in efforts to raise awareness outside of the medical profession by partnering with advocacy groups like the Matthew and Andrew Akin Foundation. At the Akin Foundation, Matthew and Andrew Akin’s parents work with other volunteers to raise awareness and funds that are used to support HLH research, HLH education, and to support families dealing with an HLH diagnosis.  These efforts are backed by a number of fund-raising events including the 700 Miles to Hope bike ride.  During this bike ride, participants pledge to travel 700 miles over the course of seven days, all while raising money and awareness for HLH.  All donations are then given to the HLH Center of Excellence at Cincinnati Children’s where it is used to support their on-going, HLH-centered mission.

If you are a physician, parent, or friend of someone facing an HLH diagnosis, the Matthew and Andrew Akin Foundation wants you to get in touch with the amazing team of HLH doctors at Cincinnati Children’s.  The Akin Family understands how important it is to receive top-notch care when dealing with HLH and they encourage you to do your research.  Please feel free to contact the Foundation with your questions or concerns, or to additionally reach out to Cincinnati Children’s directly.  Children suffering with HLH are truly one in a million.  Get them the love and care they rightly deserve by contacting the specialists at Cincinnati Children’s.

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Exploring New Possibilities In Treating HLH

Posted in HLH

Research. Wordcloud Concept.At Cincinnati Children’s Hospital, the HLH Center of Excellence team is committed to continually making strides in improving the diagnosis, treatment, and outcome for those suffering from the immune disorder HLH.  Through studies and trials, physician-scientists get closer to finding treatments that offer a more effective, and less toxic alternative to what is used currently.  HLH Center of Excellence physician, Dr. Michael Jordan, is counting on his Hybrid Immunotherapy for HLH trial to provide just that for more and more patients with HLH.

The Hybrid Immunotherapy for HLH or HIT-HLH trial is designed around a combination therapy approach.  This hybrid immunotherapy utilizes two treatment approaches in an effort to calm the inflammatory response that happens during the first stages of HLH.  Dr. Jordan’s HIT-HLH trial is the first-ever U.S.-based trail for HLH.  It is also the only trial funded by the National Institutes of Health or NIH.  According to Dr. Jordan, “This study focuses on controlling the disease process, not fixing the underlying problem.  But we believe it may give more rapid and complete control of inflammation. We hope it will be a real improvement.” 

When utilizing this treatment, doctors use a unique combination of three drugs.  These three drugs include: anti-thymocyte globulin (ATG), etoposide, and dexamethasone.  Ten centers throughout the U.S. and Canada are currently conducting HIT-HLH trials with an initial enrollment totaling 12 children.  Dr. Jordan and his team have reported pleasing results with the early stages of this trial and plan to enroll up to 40 more patients in the future.

Dr. Jordan and his colleague, HLH expert, Dr. Lisa Fillipovich have additionally paired up with other internationally-based researchers and a Swiss pharmaceutical company to test the effects of an antibody named, NI-0501 on the protein gamma interferon (IFNg).  It has been determined that this protein is greatly elevated in HLH patients and that the NI-0501 antibody has the ability to target and neutralize the protein.  The theory surrounding these findings is that elevated IFNg causes HLH. According to Dr. Jordan, if this promising theory proves true, doctors could potentially target the protein and shut-down the HLH disease process.

Thanks to the efforts of Cincinnati Children’s physician-scientists, both of these exciting trials offer the hope and promise needed by so many suffering with HLH.  Along with these efforts, the HLH Center of Excellence is also focusing on developing an HLH gene chip, preclinical studies of gene therapy in PRF1 deficiency, and preclinical trials of small molecule target therapy.  It is additionally the intent of Cincinnati Children’s to build their collaborative relationships to spread across Europe, Central American, South America, and Asia.  The center is currently working with the National Institutes of Health, along with HLH centers in China, Japan, Vietnam, Canada, and Sweden.  As these efforts expand, it is no doubt that more children suffering with HLH will be diagnosed, receive treatment, and have the chance to beat this horrible disease.

The research taking place at the HLH Center of Excellence at Cincinnati Children’s Hospital is supported partially by the efforts of the Matthew and Andrew Akin Foundation.  At the Akin Foundation, dedicated supporters raise awareness and monetary support to help those with HLH immune disorder via research, education, clinical care, and family support.  Thanks to these efforts, strides are being made in the fight against HLH.  If you are interested in joining this fight or know someone who may be suffering from HLH, the Akin Foundation can help!  Please feel free to explore this site or to make conduct with the foundation via phone or email.

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The Matthew and Andrew Akin Foundation Is On A Mission!

Posted in HLH

Business Mission The story of the Akin family’s battle with HLH starts in August of 2007.  This is when their youngest son Andrew became very ill with what first looked like liver failure.  It was soon determined that Andrew was actually suffering from a disorder called Hemophagocytic Lymphohistiocytosis or HLH.  Upon diagnosis, Andrew’s family would learn that HLH was a rare immune deficiency that needed to be properly treated in a very timely manner so that their son had the best chance of survival.

Over the next handful of months, Andrew would undergo two unsuccessful bone marrow transplants.  Although discouraging, these failed attempts only made the Akin’s desire to cure Andrew even stronger.  So, after doing some research, Andrews’s parents decided to transfer his care to the team of world-renowned HLH experts at Cincinnati Children’s Hospital.

In March of 2009, Andrew received a third bone marrow transplant under the care of Dr. Lisa Filipovich at Cincinnati Children’s.  It was soon discovered that the cause of Andrew’s HLH was due to a rare genetic mutation called X-linked Lymphoproliferative disorder #2 or XLP-2. Upon this discovery, it was recommended that Andrew’s older brother Matthew, also be tested for the mutation.  Unfortunately, it was determined that Matthew did carry the mutation and that it was only a matter of time before he would also fall victim to an HLH diagnosis.

To give Matthew the best chance of survival, doctors recommended that he undergo a bone marrow transplant while he was still healthy.  Matthew had his transplant in August of 2009. Not long after, Andrew developed severe pulmonary complications.  These complications sadly took Andrew’s life on September 5, 2009.

After Andrew’s abrupt death, Matthew battled to survive his bone marrow transplant for eight long months.  His battle was grueling and finally took his life on May 1, 2010.  Despite all of their efforts, the Akins had lost both of their boys, and that is what leads us to the mission of this foundation.

At the Matthew and Andrew Akin Foundation, the mission is two-fold.  First, they work to help support the HLH Center of Excellence at Cincinnati Children’s Hospital.  There, patients can find HLH experts that strive to fulfill the core priorities of providing research, education, and family support for those suffering from this life-threatening disorder.  Currently, the Akin Foundation is a part of some amazing initiatives taking place at Cincinnati Children’s.  These include: funding Dr. Rebecca Marsh’s study on XIAP deficiency; spreading awareness and educating families about HLH; and supporting families who are facing an HLH diagnosis.  The Akin Foundation believes that pairing with this team is making a difference for HLH families.

The Matthew and Andrew Akin Foundation has also set-out to give back to the many organizations that helped support them while their boys’ fought this terrible disease.  These organizations include the Be The Match Registry, the American Red Cross, and the Ronald McDonald House Charities.  All three of these organizations work with families facing a terminal illness diagnosis by providing resources that give hope and happiness during a very scary time.

When considering how you can help support those facing HLH, please remember the work being accomplished by the Matthew and Andrew Akin Foundation and the HLH Center of Excellence at Cincinnati Children’s Hospital.  Your support is what drives these organizations to accomplish their goals on a daily basis.  For more information on how you can help, feel free to click on the “Donate” icon located at the top of this page.

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