Dr. Mark Fleming talking about pathology vs molecular testing in MDS. He first reminds us the difference of childhood MDS from adult MDS -- and these WHO guidelines, childhood MDS is only classified into these two subtypes. #ASH22 1/n Image
The issue is that the "dysplasia" definition has been defined by the cytogenetic abnormalities and genotypes of adult MDS so the criteria for blast %age, extent of dysplasia -- but does this apply?? #ASH22 2/n
MDS in pediatric patients is more normo or hypocellular than hypercellular. There is not ringed sideroblasts in persons <30 and he also reminds us that there are a number of baseline dysplasias in germline BMF pts that are mistaken for MDS! #ASH22 3/n
So, take home point for me so far. Can I have Dr. Mark Fleming review all my bone marrow failure patient slides? Hats off and #ASHKudos to our hematopathologists! #ASH22 4/n
So many questions, does the concept of CHIP apply here? What about needing to find clonal hematopoeisis in these dysplastic marrows to call it a "neoplasm"? And does that classification change your clinical decision?! #ASH22 5/n
Saving this for myself -- but YES, sometimes germline variants do help get us to a more useful classification. #phodocs - check out the last question -- how do we classify this? how do we clinically follow these patients? #ASH22 6/6 Image
Dr. Shimamura shared in the Q&A that in the Schwachman community we DO know something abt the patterns of genomic evolution & they offer a board that can review the results of the pt to be able to tell you if this is usual, requires more monitoring, requires intervention! #ASH22

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More from @DrTiffanyL

Dec 13
Two oral abstracts on the #STELLAR study (Sickle Cell Transplant Evaluation of Long-term and Late Effects Registry) presented by Dr. Sobenna George (hi!) and Dr. Lillian Meacham #ASH22 1/n
What's the problem? You can get DOR = diminished ovarian reserve or POI = primary ovarian insufficiency (early menopause). This is SUCH a good explanation!! #ASH22 2/n ImageImage
Small numbers but such great data, 30 females and 18 males, about 4-6 years post therapy (myeloablative transplants (mostly matched sib) and one each with gene tx) #ASH22 3/n
Read 7 tweets
Dec 13
How many patients are on disease modifying treatments for #SCD - data from 2014-2021 presented by Dr. Terri Newman. @ash22 1/n
We're talking about #Hydroxyurea and in 2017, expanded use of #HU as well as L-glutamine and then in 2019 #voxelotor and #crizanlizumab. #ASH22 2/n
They looked at 5022 patients with Rx of DMTs. Those on DMTs were surprisingly mostly in the 18-45 group (the box is wrong on the screenshot) and mostly male and had more VOCs. #ASH22 3/n Image
Read 5 tweets
Dec 13
Management of pregnant women with #SCD in high income countries with Dr. Eugene Oteng-Ntim (with the cutest intro from Dr. Eugenia Asare). Writing down the #pearls here so I can share with my patients for their future and so I can advocate for them. #ASH22 1/n
As we know, more low/not detectable AMH levels in women with #SCD. Know that preimplantation diagnosis and successful transfer is possible with data to support that. And many want #NIPT secondary to fear of amnio or CVS, which can be done. (w/ @nonacus) #ASH22 2/n
What risks are we talking about in sickle cell disease and pregnancy? 1/4 of the patients in their cohort required transfusion during pregnancy and RR of preeclampsia is 2.43 and 3x risk of SGA, 4x risk of stillbirth. #ASH22 3/n Image
Read 5 tweets
Dec 13
#ASH22 Bone marrow failure syndromes: diagnostic principles in 2022. Starting with Sara Lewis, a genetic counselor in hematology. Follow this tweet for more. 1/n
Sara reminds us that she feels patients think more about their family history as they see her draw the pedigree. Time for me to start doing this! #phodocs #ASH22 #pearl 2/n
Here are the options for diagnostic workup - genetic tests can be done from somatic genes or germline! #ASH22 3/n
Read 6 tweets
Dec 13
@bhwords Dr. Beverley Hunt presenting on #COVID19 and #thrombosis. She wants to chronologically review the battles we have fought! #ASH22 1/n
@bhwords This story (clinical presentation) -- a reminder of the patients from the front lines in the beginning and what some docs went through! #COVID19 #ASH22 2/n Image
@bhwords #COVID19 is the 'perfect suit for VTE' ... inflammation, sticky blood, vessel wall changes. The amazingly high levels of fibrinogen (14g/L! (normal is 2-4g/L)) D-dimers reported on a log scale because of the significant increase. #ASH22 3/n
Read 12 tweets
Dec 13
@MiddeldorpS starting with a big thank you :) Great job starting off with these #ASH22 difficulties. 1/n
@MiddeldorpS #ALIFE2 study of low molecular weight heparin vs standard pregnancy care RCT for recurrent miscarriage (2+) and inherited thrombophilia - 41 centers in 5 countries! #ASH22 2/n
@MiddeldorpS Intervention was once daily LMWH until delivery. Intent to treat analysis so required 324 randomized evaluable women. They screened more than 10k women for inherited thrombophilia to get these 326 women! Amazing amount of work. #ASH22 3/n
Read 8 tweets

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