Hi everyone,
You may recall my now 5 y.o. had acute ITP a couple of years ago that thankfully resolved. You were all such crucial lifelines at the time, so I pop back in occasionally to see if I can chime in on any pediatric threads and help the newly worried parents.
My son has been doing great, enjoying his forest kindergarten, learning about animals, riding his bike, and becoming an avid reader. Over the past year, we noticed an increasing number of cafe-au-lait spots on his skin, and he now has 6. He also has strabismus and some other issues, so genetics at the same excellent hospital where he was treated for ITP is now following him for possible neurofibromatosis 1. NF1 is relatively common (1 in 3000 births) and mild/insignificant in about half the cases. So far, he hasn't really been affected in any significant way, but the disease is progressive and can be pretty terrible in 15-30% of patients. The mantra is similar as that for ITP: live one day at a time and try not to worry too much about the what-ifs.
In my research on this new thing (it's always something, isn't it?), I found that platelet function is actually implicated in NF1, so now I'm wondering if there is a link in my kid.
Has anyone else dealt with NF1 or have you heard anything?
Here is the article I found:
pubmed.ncbi.nlm.nih.gov/7734358/https://pubmed.ncbi.nlm.nih.gov/7734358/
Br J Haematol. 1995 Mar;89(3):582-8.
doi: 10.1111/j.1365-2141.1995.tb08367.x.
Attenuated platelet sensitivity to collagen in patients with neurofibromatosis type 1
J E Rasko 1 , K N North, E J Favaloro, L Grispo, M C Berndt
Affiliations
PMID: 7734358 DOI: 10.1111/j.1365-2141.1995.tb08367.x
Abstract
Haemostatis has not previously been studied in patients with neurofibromatosis 1 (NF-1), despite case reports of an association with von Willebrand disease and reported excessive bleeding in those undergoing surgery for neurofibromas. Platelets from NF-1 patients (n = 28) were tested for aggregation and ATP release with agonists including ADP, arachidonic acid, thrombin and collagen. Mepacrine staining of platelets and three different assays for von Willebrand factor (VWF) were also performed. In response to collagen as the platelet agonist, tested at both 2 and 1 micrograms/ml, NF-1 patients had an attenuated rate of aggregation (P < 0.007), aggregation lag phase (P < 0.005) and ATP release (P < 0.045), as well as requiring higher collagen concentrations to attain threshold aggregation response (P = 0.041). Normal platelets resuspended in selected NF-1 plasma exhibited significantly reduced platelet aggregation and release compared to controls, which was not corrected by mixing 1:1 with normal plasma. Collagen binding activity was reduced in NF-1 patients compared with controls (127% v 161%, P = 0.05). As a group,
patients with NF-1 display defective platelet function characterized by in vitro evidence of impaired responsiveness to collagen. It is suggested that a plasma factor, present in a significant proportion of NF-1 patients, may interfere with the ability of collagen to interact with other proteins such as von Willebrand factor and the platelet collagen receptor. 
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