Macrocytic Anemia (updated 2021) - CRASH! Medical Review Series

[@pwbmd]

Other causes of macrocytic anemia (low yield for Steps 2 and 3, but moderate yield for Step 1): *Orotic acuduria: Defect of UMP synthase (de novo pyrimidine synthesis pathway), which converts Orotic acid to UMP. Inherited (AR). Pediatric disorder presenting with anemia and failure to thrive. Refractory to folate and B12 because the problem is a defect of an enzyme needed to make nucleotides, rather than a deficiency of substrate. Dx: Orotic acid in urine. Don't confuse with ornithine transcarbamylase deficiency, a defect of the urea cycle, which also has orotic acid in the urine but has hyperammonemia, not anemia. Tx with supplemental UMP to bypass enzymatic defect. *Diamond-Blackfan anemia: Intrinsic defect of RBC progenitor cells. Includes congenital anomalies such as short stature, cleft palate, and upper extremity malformations. Because this is not a defect in DNA synthesis (rather an isolated defect in RBC maturation), defect will be limited to RBCs. Hence there will be no abnormalities in WBCs (i.e., no hyperhsegmented neutrophils). MCV will be nonetheless high. This is the difference between macrocytic anemia (RBCs large) and megaloblastic anemia (RBCs and WBCs large). Dx: Elevated HbF, bone marrow biopsy. Tx: Steroids, transfusions, BMT. *Fanconi anemia: Similar to Diamond-Blackfan as far as manifestations, including macrocytosis. Difference is Fanconi Anemia involves a defect in DNA repair, ultimately resulting in bone marrow failure and PANCYTOPENIA. Because this is an issue with DNA repair, many of these patients go on to develop leukemia, namely AML. For some reason, FA has cafe-au-lait spots. Dx: Genetic testing. Tx: Androgens, Epo, stem cell therapy. ---Don't confuse with Fanconi SYNDROME, which is totally unrelated and is a defect of the reabsorptive function of the proximal convoluted tubule.

[@nancychandler768]

This was incredibly helpful and informative and easy to follow. Thank you 🙏🏼

[@abdulwadud9778]

thanks Bolin

[@abdelraouflaouisset7957]

Thank you!

[@Diana-mu9vd]

Can you talk thyroids role and large RBCs. Why Large RBC, super high B12? Ty

[@dailydoseofmedicinee]

👏👏

[@soniasun1]

Thank you so much

[@martinbrennan5078]

My mcv raised also mch mchc plus my platlets dropping 7 . I've hashimoto's thyroiditis I also bruise badly . How can a red blood cell function if you have large rbcs 102..9 mcv my dr calls it persistent macrocytosis for last three yrs any advice waiting on results on mma

[@phwshopping1426]

Did you find out anything more? I have the same thing 😢

[@were_all_fact6026]

So is hypothyroidism going to be a permanently high MCV or is treatment with T4 going to bring it back to normal range? TIA

[@phwshopping1426]

Great question

[@heinrichschmitz8964]

Thumbs up for lent!

[@TachyTutorials]

Great One! I aspire to make videos like you!

[@richestnba6296]

For more visit my website site or KZbin channels At www.nativehealthclinic.webs.com kzbin.info/door/pUsOO5kNWlqOYzaWgtQuHQ Facebook page: facebook.com/Dr_Emmanuel9-105748441179562/ Await to hear from you my child. ..

[@otuokwulillian9092]

❤❤❤

[@gabrielgajadhar8055]

Thanks so much for updating these!!!

[@richestnba6296]

For more visit my website site or KZbin channels At www.nativehealthclinic.webs.com kzbin.info/door/pUsOO5kNWlqOYzaWgtQuHQ Facebook page: facebook.com/Dr_Emmanuel9-105748441179562/ Await to hear from you my child. ..

[@trivikrammalladi7137]

❤❤❤