View source for Diamond-Blackfan anemia natural history, complications and prognosis

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{{Diamond-Blackfan anemia}}

==Overview==
[[Diamond-Blackfan anemia|DBA]] typically present with common symptoms of [[anemia]], including [[Pallor|pale]] [[skin]], [[sleepiness]], [[irritability]], [[tachycardia]]. Common [[complications]] of [[Diamond-Blackfan anemia|DBA]] include physical abnormalities, [[Cancer]] predisposition, [[eye]] problems such as [[cataracts]], [[glaucoma]], or [[strabismus]], kidney abnormalities, [[hypospadias]], and secondary [[complications]] due to standard therapies( [[Corticosteroids]] treatment, Red cell [[transfusion]], [[Bone marrow transplantation]]). [[Prognosis]] is relatively good, overall actuarial survival is 75% at age 40 years

==Diamond-Blackfan anemia natural history, complications and prognosis==
===Natural history===
*[[DBA]] typically presents in [[infancy]], most commonly with [[pallor]] and [[lethargy]], median age at presentation is 8 weeks. [[Hydrops fetalis]] in some cases have been seen.<ref name="pmid23349008">{{cite journal |vauthors=Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R |title=First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia |journal=Am. J. Hematol. |volume=88 |issue=2 |pages=160 |date=February 2013 |pmid=23349008 |doi=10.1002/ajh.23366 |url=}}</ref><ref name="pmid29599205">{{cite journal |vauthors=Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW |title=Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia |journal=Haematologica |volume=103 |issue=6 |pages=949–958 |date=June 2018 |pmid=29599205 |pmc=6058779 |doi=10.3324/haematol.2017.177980 |url=}}</ref>The severity of [[Diamond-Blackfan anemia]] may vary, even within the same family.

===Complications===
*Common complications of [[Diamond-Blackfan anemia]] include:
*Physical abnormalities
*higher-than-average chance of developing [[myelodysplastic syndrome]] ([[MDS]]), [[acute myeloid leukemia]] ([[AML]]), [[bone cancer]] ([[osteosarcoma]]), [[colon cancer]]<ref name="pmid20012593">{{cite journal |vauthors=Luft F |title=The rise of a ribosomopathy and increased cancer risk |journal=J. Mol. Med. |volume=88 |issue=1 |pages=1–3 |date=January 2010 |pmid=20012593 |doi=10.1007/s00109-009-0570-0 |url=}}</ref>
*Eye problems such as [[cataracts]], [[glaucoma]], or [[strabismus]]
*[[kidney]] abnormalities
*[[hypospadias]]
*Secondary [[complications]] due to standard therapies( [[Corticosteroids]] treatment, [[Red cell transfusion]], [[Bone marrow transplantation]]):
**Oragans involvement due to [[Transfusion]] [[iron overload]]
***[[Cirrhosis]] or [[fibrosis]] of the [[liver]]
***[[Cardiac arrythmia|Cardiac arrythmias]]
***[[Diabetes]]
***[[Reproductive organ]] failure
***[[Growth]] stunting
***[[Endocrine]] failure affecting the [[thyroid]] and [[adrenal]]
**Side effects of [[corticosteroids]]
***[[Osteoporosis]]
***[[Weight gain]]
***[[Cushingoid appearance]]
***Hypertension
***[[Diabetes mellitus]]
***[[Growth retardation]]
***[[Pathologic]] [[bone fractures]]
***[[Gastric ulcers]]
***[[Cataracts]]
***[[Glaucoma]]
***Increased susceptibility to [[infection]]
**Stem cell transplantation
***[[Graft vs. Host Disease]] ([[GVHD]])
***[[Rejection]]
===Prognosis===
[[Prognosis]] is relatively good, overall actuarial survival is 75% at age 40 years, but complications related to treatment may alter the quality of life of the affected individuals. Severe complications as a result of treatment or the development of [[cancer]] may reduce [[life expectancy]]. <ref name="pmid31424886">{{cite journal |vauthors=Gadhiya K, Budh DP |title= |journal= |volume= |issue= |pages= |date= |pmid=31424886 |doi= |url=}}</ref>
*Ultimately, 40% of case subjects remain dependent upon [[corticosteroids]] which increase the risk of [[heart disease]], [[osteoporosis]], and severe [[infections]]. <ref name="pmid20960466">{{cite journal |vauthors=Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I |title=The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update |journal=Hum. Mutat. |volume=31 |issue=12 |pages=1269–79 |date=December 2010 |pmid=20960466 |pmc=4485435 |doi=10.1002/humu.21383 |url=}}</ref> 
*Another 40% become dependent upon [[red cell transfusions]] which require regular [[chelation]] to prevent [[iron overload]] and increases the risk of [[alloimmunization]] and [[transfusion reactions]], and can cause severe co-morbidities.<ref name="pmid23016900">{{cite journal |vauthors=Horos R, von Lindern M |title=Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia |journal=Br. J. Haematol. |volume=159 |issue=5 |pages=514–27 |date=December 2012 |pmid=23016900 |doi=10.1111/bjh.12058 |url=}}</ref>

==References==
{{Reflist|2}}

[[Category:Needs content]]
[[Category:Disease]]
[[Category:Pediatrics]]
[[Category:Genetic disorders]]
[[Category:Hematology]]