my daughter just turned 11 and has had a persistant elevated tsh,2 positive ana 1:80 titer with nuclear pattern,positive atypical anca,persistant low wbc,anc,lowside of low rbc,elevated mpv, platelet count keeps creeping downward and is now at 196,persistant giant platelets on smear view,low igg,iga,igm, low subclass 1 and 3,low side of low ferritin,low rdw,low ggt,collagen adp is low at 66 sec.,she is always getting sick easy and alot with fevers,upper respiratory,strep throats,flu,rashes,uti's,she has been complaining of lump in throat,headaches, belly discomfort,for awhile now,has sinus tachycardia with a normal echo,now for the past several months she has red spots that flake,crust and itch on the scalp,i use over the counter shampoo dermarest and it helps some,she has skin sensitivites, problems with constipation,complains of knee and leg pain,has a ultrasound of thyroid that shows mildly heterogenous echotexture of both thyroid lobes and a few small enlarged lymph nodes,she also has a copy number gain of chromosome 4p14 spanning approximately 0.394 mb.her headaches are short timed ones but are on a daily basis as is the lump in her throat,and fast heartbeat feeling,she has days where she is low energy copared to her normal energy level,she sleeps more these days,always bruise easily.we have a family history of thyroid problems ,lymphoma,breast cancer,as well as autoimmune,i am concerned and hope to get some advice on how to get a accurate diagnosis. what do you suggest?
Common Variable Immune Deficiency (CVID) - the diagnosis is confirmed by finding a low level of serum immunoglobulins, usually including IgG, IgA and IgM. Immunoglobulin replacement therapy almost always brings improvement of symptoms.
Symptoms of Common Variable Immune Deficiency
* frequent and chronic bacterial, viral or fungal infections (bronchitis, pneumonia, conjunctivitis, colds, influenza, ear infections, skin infections etc)
* chronic sinusitis or upper respiratory damage, bronchiectasis
* lymph gland enlargement
* joint pain or arthritis (may be due to infection)
* hair loss
* infections or disorders of the digestive tract, diarrhea
* spleen enlargement
* autoimmune disease
* premature death
Approximately 20% of people with CVID have an autoimmune disorder. The most commonly seen in people with CVID is immune thrombocytopenia purpura. This condition is characterized by a reduced number of platelets in the blood, which leads to abnormal bruising and bleeding. Immune thrombocytopenia is a listed cause of elevated MPV.
Elevated TSH with heterogenous echotexture - check for Hashimoto's thyroiditis (most common cause of hypothyroidism). Serological markers thyroglobulin antibodies (TgAb), thyroid peroxidase antibodies (TPOAb).
Low RDW, low ferritin - most likely cause is iron deficiency.
Atypical ANCA positive - usually seen with chronic inflammation, bowel diseases and other autoimmune diseases.
Nucleolar ANA pattern - suggests systemic sclerosis but further testing is needed to confirm or rule out this condition.
WOULD CERTAINLY LIKE Dr. Kokil Mathur TO GIVE HER OPINION. AS I FEEL THIS IS A VERY SERIOUS CASE.
Hi and welcome to the forum. For starters, the ANA is a low titer and might be considered as insignificant. But when factored in w/ everything else, (other off labs and symptoms) I think it would be something to be considered.
ANA nucleolar pattern - are not often seen in SLE and suggest scleroderma.
ANCA - antineutrophil antibodies indicate the presence of one of two types of non-lupus vasculitis (inflammation of the blood vessels) called Wegener's granulomatosis.
Low WBC - rule out bone marrow diseases or an enlarged spleen, HIV (the vast majority of low WBC counts is NOT HIV related) I also know that low WBC can be related to lupus as well.
Low RBC - indicates anemia due to nutritional deficiences, blood loss or destruction of blood cells internally, or failure to produce blood int he bone marrow. (other test to follow-up w/ are MCH or MCV [mean corpmoglobin or mean corpuscular volume])
Elevated MPV - this can indicate a form of anemia, or may result from therapy involving treatment with drugs that are toxic to cells, for example, in chemotherapy used to treat cancer. (note: also see PM)
Low platelets - This indicates the ability for the blood to coagulate. Rule out thrombocytopenia, acute blood loss, use of heparin, infections with sepsis, entrapment of platelets in an enlarged spleen, or bone marrow failure from diseases such as myelofibrosis or leukemia. Signs of bleeding are nosebleeds, easy bruising, prolonged bleeding from a cut, black or bloody stools, brown or red urine or tiny pinpoint sized red or purple spots on your skin, under your nails or in your gums.
Low IgG, IgM, IgA - See note in PM
Low ferritin - This would indicate anemia
?Low rdw - Does this mean low blood pressure reading???
Low ggt - If GGT is low or normal, then an increased ALP is more likely to be due to bone disease. A low or normal result would also indicate that it is unlikely that a person has liver disease or consumed any alcohol.
Low collagen adp - I'm not familar w/ this test, but it is one that is ordered when a bleeding disorder is suspected.
"Ultrasound of thyroid that shows mildly heterogenous echotexture of both thyroid lobes and a few small enlarged lymph nodes." - My uneducated guess to some of this is Hashimoto’s Thyroiditis. Along w/ the elevated TSH, I would think this is a strong indicator of Hashimoto's.
But I really think there is other things going on as well. Many times a person can have more than one autoimmune disease.
A low serum ferritin is the most sensitive lab test for iron deficiency anaemia. I was actually talking about low RDW being the most likely due to iron deficiency as there are a few other listed causes. Low RBC also lists iron deficiency - should see low MCV. A positive atypical ANCA is not associated with Wegener's Granulamatosis, Microscopic polyangitis or Churg Strauss. Just to add, systemic sclerosis is also known as systemic scleroderma.
Just to piggyback on Red Star, I would contact the IDF (immune deficiency foundation) at www.primaryimmune.org. They also have a phone number you can call. On their web site is a publications section, there is lots of free info you can download or have mailed to you including a diagnostic guide for your doc to use in testing for an immune deficiency like CVID.
They also can give you names of immunologists in your area who are familiar with immune deficiencies. There are currently 150 different types.
They also have info about your daughters rights under the ADA and what rights she has at school! This was a major problem for my daughter through out her public school experience.
The IDF is a fantastic support group that can help in just so many ways.
They are on the east coast, so probably too late today, to call but they are very helpful.
Many of the people there either have an immune deficiency or someone in their family does so they know the pain and misery you are going through. The also have children's programs and that was helpful for my daughter too.
You are committed to helping your daughter and I hope you find the right answers! Good luck and hang in there!
thank you for your response to my daughters issues.the hematologist is passing the buck to immunology who is pasiing the buck back to hematology who is now passing the buck to rhematology.we see rhematology next week.my daughter has already been through alot.she was born blue,not breathing,not crying or moving,fever of 101.upon birth and i developed a fever minutes prior to my stat c-section.my daughter has mild cerbral palsy and aspergers,scoliosis,speech articulation,sensory issues,learning problems,cognitive deficits,she had developemental delays,has had lots of p/t,some o/t and speech.she is homeschooled since 2nd grade and is doing great with schoolwork now.in public school she was not progressing but instead was just very behind.she has made good progress.i just dont understand how it can be so difficult to get a correct diagnosis so we can help my daughters immune system get strong. would like to say thank you for your help.
would like to say thank you for your information.it has been hard.i have to be very clean and sterile with her environment.she is in a controlled environment and we practice good hygiene.she plays with her friend as long as no one is sick at her house.my daughter is homescooled and this lessens the times she gets sick.when she was in public school she stayed sick all year round .i would keep her home until she was well and then i would send her back in a matter of days she would be sick again.i hope soon we will have answers and help her immune system to be strong.
thanks for your reply.my daughter seems complicated.my daughters mch is mildly elevated and has been for a while.my daughters labwork started out in 2008 with normal igg,igm,low iga,the values started dropping and now are all low.she has had several routine labs when she was well that were abnormal like the one from 2010 that shows low rdw,low neutrophils,high lymphs.the one from jan.2012 showed high a/g ratio,high tsh,low rdw,low neutrophils,high lymphs.she has had a couple low rbc,lymphs have been up and down,a couple high a/g ratio,low globulin,high cd3+tcell percent,high cd3+cd4+percent,high cd4+cd45ra+percent,low cd4+cd45ro+percent,low cd19+cd27+percent,low cd19+cd27+number,several high bands and low segs,ovalocytes 1+,poikilocytosis 1+,anisocytes 1+.she has always been prone to get sick easy.just wish she could have a strong immune system.my mom has cdip and sarcoidosis.my aunt has lupus.they have suffered for many years but there onset was in there 50's. my mom,my aunt and myself were all healthy children.my daughter is the 1st child in the family to have immune issues.sometimes at night i cry.my mom and my daughter both have serious health issues and i have neuropathy in my feet,degenerative disc disease,copd, heart murmur,mvp, i dont have as much energy as i use to but i push myself to accomplish alot so i can take good care of my daughter.she is very important to me.thanks again for your knowledge.i will research some of it and talk more to my daughter doctors.
I hope the info from everyone helps. You are not the only Mom to cry at night for their child. It took me 16 years to get answers to why my child was sick all the time. If someone or some doc had know about the IDF I think that would have been the answer for us. We even tried our local Children's hospital and National Jewish who are supposed to be experts in children and immunology. For us the key was having an immune specialist doctor who knew about immune deficiencies and about the IDF. Then we finally had the answer. If your daughter has CVID there are treatments she can do.
Here are some links to a "Mystery Diagnosis" episode that explains what one family went through before their son was diagnosed with CVID.
Here is the “Mystery Diagnosis” episode.
Part 1 of 2
Part 2 of 2
Hope this is helpful. Your daughter is lucky she has you as a Mom!
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