@SharonSavageMD presenting on #DyskeratosisCongenita #DC update. Starting a pt presentation with a de novo TINF2 variant. #ASH22 1/n
@SharonSavageMD She mentions her GI bleeding (as well as other findings) -- something I have seen in #DC. What we know - females do better than male (due to X-linked disease) #ASH22 2/n
@SharonSavageMD Squamous cell carcinoma and AML and MDS rates are high as we know in all these bone marrow failures -- and transplant accelerates this. #ASH22 3/n
@SharonSavageMD Now - how to manage the hematopoetic complications in #dc We have improved over the last 15 years. She thinks its due to better diagnosis and reduced intensity regimens. #ASH22 4/n
@SharonSavageMD Androgens have been used in DC as well -- 70% can achieve transfusion independence, similar to those with FA! But because they are virilizing and can cause lipid profile abnormalities -- but #danazol have fewer side effects due to attenuation. 5/n #ASH22
@SharonSavageMD Reminder at the end of her presentation that many of these patients present as adults! (and for #phodocs to ask a good family history) GUIDELINES AT #teamtelomere Check out these QR codes. #ASH22 6/6

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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
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
Read 7 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 ImageImageImage
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

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