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TOPIC: ALPS - Autoimmune Lymphoproliferative Syndrome

ALPS - Autoimmune Lymphoproliferative Syndrome 9 years 6 months ago #11287

  • bluebutterfly
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My son was diagnosed with ITP in May 2003, when he was 4 years old. He has what is called refractory ITP. Which means that his platelets will drop to under 5 very rapidly when he is sick but they also rebound naturally up over 100 after the crash and usually stay over 130 unless he is sick.

This September he received a new diagnosis that causes the ITP. After genetic testing was done it was determined that his ITP is caused by ALPs- Autoimmune Lymphoproliferative Syndrome. This syndrome is what is causing the destruction of the platelets and also can cause his body to destroy all other blood cells as well as his organs and it puts him at an increased risk of lymphoma and leukemia. In our Children's Hospital they have only recently started testing children with chronic ITP for this genetic disorder. At this point in time ALPs is still classified as very rare (with only about 250 people in the US being diagnosed with it) however, it is expected to rise in occurance as testing becomes more frequent.

I am writing this in order to provide other parents with the information so that they may discuss it with their Hematologist/Oncologist. If testing is done and found positive for ALPs then although frightening it also allows for frequent diagnostic measurement to be done in order to catch any complications(especially the cancers) further than the low platelets early. My son is now checked very carefully for swollen lymph nodes and will have regular chest xrays done as the lymph nodes in that area are more difficult to monitor.

There is very little information known about ALPs. I have seen an Oncologist/Hematologist to be checked also and he and his partner had never heard of it. I am including a link to a website that is the best for information on it. The link is to National Institute of Allergy and Infectious Disease (NIAID) the organization that found the ALPs gene and it is the place that does all of the genetic testing in the world for ALPs.

[Research at the NIAID:
NIAID first began to study ALPS in 1990, when researchers saw a child who had immune system symptoms that did not fit any previously known disorders. In 1995, after evaluation of multiple patients with similar symptoms, NIH named this newly identified condition ALPS. As of 2007, NIH had evaluated and diagnosed ALPS in more than 250 patients. These patients come from all over the country and are of many different ethnic backgrounds.]


www.niaid.nih.gov/topics/alps/Pages/default.aspx

My son's diagnosis of ALPs is still in progress. The initial T/B cell testing he had done indicates he is positive for ALPs. He has another hematology appointment tomorrow and is having more extensive blood work and genetic testing done which will be sent to the NIAID lab in order to give us more specifics about the type of ALPs and a more exact genetic profile of his ALPs. After that our family will also have more extensive testing. If I find out more information that is helpful I will post.
All Love and Abundance of Platelets

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Re: ALPS - Autoimmune Lymphoproliferative Syndrome 9 years 6 months ago #11346

  • wildroseao@aol.com
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Hi!

Actually, our moderator Sandi over on the Adult side has ALPS, and it's discussed fairly often over there... Check it out! Ann, Caitlin's (23) Mom
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Re: ALPS - Autoimmune Lymphoproliferative Syndrome 9 years 6 months ago #11351

  • Bunnie
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Too many acronyms. I think you'll find that Sandi occassionally comments on Antiphospholipid syndrome (APS or APLS).

There are a few links on the main site that address ALPS - Autoimmune Lymphoproliferative Syndrome. www.pdsa.org/resources/other-platelet-disorders.html
"I am an old man and have known a great many troubles, but most of them have never happened.\" — Mark Twain\\\\\\"Worry is a misuse of the imagination.\" — Dan Zadra
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Re: ALPS - Autoimmune Lymphoproliferative Syndrome 9 years 6 months ago #11410

  • Sandi
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  • Sandi Forum Moderator Diagnosed in 1998, currently in remission. Diagnosed with Lupus in 2006. Last Count - 344k - 6-9-18
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Yeah...I have APS Antibodies, not ALPS. It can be confusing.

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Re: ALPS - Autoimmune Lymphoproliferative Syndrome 9 years 3 months ago #14317

  • shelley6591
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This is very interesting, I just found out about ALPS today and I'm going to be bringin it up to my son's Hemotologist the next visit. My son was diagnosed at 18 months, he is now 5 1/2. His lowest count was 52 and he usually hangs out around 125/130 and he can fall and rebound quickly. My husband has the exact same thing we've discovered through genetic testing and he was told years ago he would be more prone to Cancer and Lukemia but that was about 15 years ago and we're told that's not really the case so hopefully that's true. The frustrating part is even though my son has had bone marrow test, genetic testing and his DNA tested they have yet to give him a diagnosis other than Chronic ITP because tey say this is so rare especially since whatever it is seems to be genetic, maybe it's this?

Shelley

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Re: ALPS - Autoimmune Lymphoproliferative Syndrome 9 years 1 week ago #17159

  • juliekwalker
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Hi all,
I'm new to this site and group, but my 7-year old son also has Autoimmune Lymphoproliferative Syndrome. One of his primary symptoms is low platelets. He was diagnosed fairly quickly, thanks to the amazing docs at Seattle Children's Hospital, but many, many great hematologists have not yet heard of ALPS. I hear from the NIH that about 300-500 people worldwide have been diagnosed with ALPS. We have just completed our fourth visit to the National Institutes of Health in Bethesda, MD in 16 months, as my son is enrolled in a study there (as are many ALPS patients), and they provide his main treatment (with support from our local docs).

I urge you all to mention this to your doctors and get the word out about ALPS. If your kids do have ALPS, there are treatments and lots of study underway to help. The preliminary test for ALPS is for an elevated protein and is a very simple and quick blood test; then there are further blood tests to confirm, and then genetic testing. To BlueButterfly, and others who have kids already diagnosed with ALPS, please contact me and I'll connect you with our small but growing email list of parents of ALPs patients (with a few adult patients thrown in there!). Also if your child has ALPS, I urge you to get in touch with the NIH group that studies ALPS - they are a wonderful group of people and provide tons of support and knowledge.

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Re: ALPS - Autoimmune Lymphoproliferative Syndrome 9 years 1 week ago #17234

  • karatemom3
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Hi, I think my son now 29 has ALPS but his hematologist keeps brushing him off when he asks him about it and said he never heard of it. Matt has had recurring hemolytic anemia, ITP, enlarged spleen and enlarged lymph nodes for 22 years. He gets odd rashes at times and had signs and symptoms of autoimmune hepatitis two years ago. Is it just me or does that not sound like ALPS? Julie, what is this simple test for ALPS? Maybe my son can convince his MD to do it. Thank you all for posting. Nobody else knows what I am talking about. Sincerely Joan

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Re: ALPS - Autoimmune Lymphoproliferative Syndrome 9 years 6 days ago #17248

  • juliekwalker
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Hi Joan,
I'm not a doctor, but your son's constellation of symptoms does match those of ALPS. I sincerely hope you find another hematologist who will take the possibility seriously. ALPs patients have a greatly elevated serum B12 level. It may even be something that was screened in another full blood workup your son had in the past. It is a simple blood test, of which the results can be seen within a day. If he has an elevated B12 serum, it is not a diagnosis, but a "strong indicator" that it's ALPs. Then they will need to test for a certain type of T-cells, "double-negative T-cells", which is also a blood test. I have attached a medical journal article here that explains this in a section called "diagnostic methods". My goodness, he should just look it up himself. The NIH has a great website about it. I hope this helps you find answers! Keep me posted for sure. I definitely feel like there are many people suffering out there with ALPs, and it is so little known that they don't get diagnosis and treatment that would help them. Good luck!

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Re: ALPS - Autoimmune Lymphoproliferative Syndrome 9 years 6 days ago #17264

  • karatemom3
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Hi Julie, Thank you for your prompt reply. Now I am confused. Matt had low B12 levels and was on B12 shots two years ago for about six months. He still needs to be tested. I'm going to visit him on Tuesday and take some articles on ALPS for him to give his hematologist. If his hema still brushes him off maybe I'll kidnap my son and take him to the NIH in Maryland. I hope your son is doing well and I'm so glad you found a good doctor. Thank you again, Joan

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ALPS - Autoimmune Lymphoproliferative Syndrome 5 months 6 days ago #68595

  • Matixsmom
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Hello! My son, Matix, was first diagnosed with ITP when he was 8 yrs old after a viral pneumonia. He battled for 2 years with various treatments and his platelets just normalized after 2 years. Fast forward four years of complete health to waking up with petechiae once again. Matix has always been a super low platelet dropper, most always tanks to 0. We were originally told the ITP would not come back so we were shocked to see it again. He has had multiple bone marrow biopsies that reveal "not normal" but not cancer. Frequently being told he looked as if he was "brewing a leukemia ". The doctor we had been using continued to tell us that she wasn't sure why Matix had recurrence of ITP after 4 years of remission. That he is "just a weird case". I have always been terrified that something else is going on. This Mama could no longer accept the "I don't know" answer so I set out to find a specialist. I researched until I found a needle in the haystack (Mama's don't give up-ever). We saw our new doctor in December where a ton of testing commenced to check his immune system. He was diagnosed with ITP for the 2nd time in September 2019 and started Promacta in October. He has since started having severe joint pain, had a huge platelet tank last week missing one week.of school with wet bleeding, and fatigue that is unimaginable for a 15 year old boy. We had our second appointment with our new doctor yesterday where she has mentioned the possibility of Matix having ALPS. I have never heard of this before and would love to hear from any other parents out there that may have a child with ALPS. We will have an appointment in a few weeks with his Hematologist and Immunologist to discuss his case begin testing. I am anxiously awaiting any diagnosis at this point that would explain my very atypical child so we could begin treatment. Any other similar stories?

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ALPS - Autoimmune Lymphoproliferative Syndrome 4 months 2 weeks ago #68684

  • Hal9000
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MatixsMom, have you heard of the drugs 'Ibrutinib' or 'PRN1008'? As I understand, they are appropriate for ITP and some lymphoproliferative disorders. Not sure.
Some info on these 'BTK' destruction pathway inhibitors:
"Ibrutinib and novel BTK inhibitors in clinical development"
www.ncbi.nlm.nih.gov/pmc/articles/PMC3751776/

Clinical trial on PRN1008:
clinicaltrials.gov/ct2/show/NCT03395210

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ALPS - Autoimmune Lymphoproliferative Syndrome 2 weeks 18 hours ago #69511

  • Winter7690
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Hi, my name is Donna and I am the heterozygous carrier of ALPS that I passed on genetically to my precious son Devin. I am not in any way trying to scare anyone, but I need to share our experience to draw awareness to this disease. Our story is also one of the warrior stories posted, so you may know us already. I am so sorry we are all part of this ALPS and ITP community, as we know how devastating these diseases can be. Devin and I have both suffered ITP symptoms several times in our lives. He more than me. We got to the point that we knew exactly what to do when we saw petechia or mouth blisters or bruising. Call the hematologist and order a CBC. If platelets were at an unsafe level, be admitted to hospital for IVIG and Rituxan until safe levels. Unfortunately, in September of 2019, Devin awoke with ITP symptoms. We went straight to ER and had CBC done, his platelets were 2000, so we went by ambulance to St. Louis Children's Hospital for IVIG and Rituxan. Even though Devin was 24 years old, his ALPS was diagnosed at this hospital when he was 3 years old, so we continued care here. They kept him overnight and sent us home because the treatments can take several days to weeks to work. He started a horrible nose bleed on Wednesday evening and we paged the hematologist on call..SHe said nosebleeds with this low of platelets is not uncommon, if it doesn't stop in 10 minutes call back. Well it did stop. Looking back now, I regret with my whole soul, not realizing the mouth blisters were worse than any other occurrence and the nose bleed too, was a sign I wish I had said "we aren't comfortable this time it seems worse, can we please come over for a CT scan?" But being desensitized to the symptoms from previous occurances, we went back to watching our movie and thanked God the nosebleed stopped. The next day was uneventful, he laid around and rested, but no more nosebleeds. We were supposed to return Friday morning for another CBC then Monday have another IVIG and Rituxan if platelets not safe . Friday morning our world stopped. Devin actually. texted me at 5:35 am that he could not move his left arm or his left leg. I ran downstairs to find him having stroke like symptoms. We called an ambulance and took him to the local hospital where they did a CT scan and saw that my Devin had suffered an Inter-cranial brain hemorrhage and was in need of emergency surgery to relieve the pressure. They airlifted him to St. Louis Children's Hospital where the Neurologist and team of surgeons took his platelet count and told us that his platelets were 2000 again and therefore could not safely have the life saving brain surgery because he would bleed out and they would not be able to stop it. They did an emergency splenectomy because they could clamp those arteries to control bleeding and over the course of 8 hours transfused 24 bags of platelets, n-plate and any options available to try to raise platelets to do the brain surgery. After the splenectomy and n-plate, the platelets seemed to be rising some, so we had much needed hope for a minute. Then the ALPS kicked in and the liver started taking over platelet destruction in place of the spleen! Steroids, hours of immune suppressing measures could not stop the ALPS from continuing to destroy them and at 9:00 that evening our precious Devin was no longer responding to stimuli and was placed on a ventilator.. two weeks later we had to say goodbye. We are lost and broken. The reason I felt I needed to post this is so that you are aware that ITP as a secondary to ALPS can be life threatening in the event of an ICH. Please advocate and do not leave the hospital until platelets are at least above 10,000 and safe monitoring are in place. I now live not only with the loss of my best friend and precious son, but also with the survivors guilt of being the genetic carrier of ALPS to my son, even though I had no idea until ITP appeared to us 10 years ago, that I even had the gene defect. I pray for all of you on this nightmare journey and that research continues to progress to hopefully one day have ITP secondary to ALPS protocol safely in place. Please make sure to have a CT scan if the bleeding is great and refuse to leave the hospital until you feel the active bleeding symptoms and platelets are at a safe level. Feel free to ask me any questions you may have and I apologize if my post has scared or upset anyone. I needed to share to hopefully save someone else from this devastation.

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ALPS - Autoimmune Lymphoproliferative Syndrome 2 weeks 12 hours ago #69515

  • mrsb04
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  • Diagnosis of ITP in 2014. Ex renal specialist nurse. I retired in Nov 2019 after 46 years on the front line. I firmly believe in empowering patients to be involved as much as possible in their care; always question medics about the evidence base they use.
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Donna
My heart goes out to you. I cannot begin to imagine what you are going through. How brave of you to post this warning. xx

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ALPS - Autoimmune Lymphoproliferative Syndrome 6 days 7 hours ago #69589

  • Hal9000
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Donna, thanks for telling this very compelling story. Also was transfixed by your warrior story on the warrior page. Now I can more fully understand ALPS and how it can take one so quickly. Like a immune system destruction throttle stuck all the way on or all the way off?

Now that your here, how have you fared with ALPS and ITP?
Curious. Do you happen to recall what pattern your ANA is? Was it speckled or homogeneous maybe? Mine is homogeneous but it seems like all of those here with SLE and ITP have speckled pattern. As I understand the most common pattern for SLE is not speckled. It is homogeneous. If one looks into it, speckled is believed to be the result of Epstein Barr virus.

I don't see ALPS on this page.
"Positive Anti-Nuclear Antibody (ANA) Test"
www.cancertherapyadvisor.com/home/decision-support-in-medicine/labmed/positive-anti-nuclear-antibody-ana-test/

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ALPS - Autoimmune Lymphoproliferative Syndrome 6 days 1 hour ago #69595

  • mrsb04
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  • Diagnosis of ITP in 2014. Ex renal specialist nurse. I retired in Nov 2019 after 46 years on the front line. I firmly believe in empowering patients to be involved as much as possible in their care; always question medics about the evidence base they use.
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From what I have read ANA does not appear to assist with a definitive diagnosis of ALPS.

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