@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
• • •
Missing some Tweet in this thread? You can try to
force a refresh
