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==Overview== | ==Overview== | ||
Patients with [[DBA]] are treated with [[steroid therapy|corticosteroid therapy]], [[Red blood cell]] [[transfusion]], [[Stem cell transplantation]], [[Cancer]] treatment, and management of related-therapies [[complications]]. | |||
==Medical Therapy== | ==Medical Therapy== | ||
*[[Red cell transfusions]] | |||
**[[Transfusions]] are usually the mainstay of [[treatment]] for the first year of life for the [[anemia]] of [[DBA]]. Also, Red blood transfusions are used for those patients who do not respond to [[corticosteroid]] treatment. | |||
*[[Corticosteroid]] therapy | |||
**After the first year patients are started on a course of treatment with [[corticosteroids]] and it remains the mainstay of treatment after the original report of their efficacy. Although many side effects of corticosteroids were noted in patients under treatment of it.<ref>{{cite journal | author= Vlachos A, Klein GW, Lipton JM | title= The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. | journal= J. Pediatr. Hematol. Oncol. | year=2001 | pages=377-82 | volume=23 | issue=6 | id=PMID 11563775}}</ref> Treatment with corticosteroids can improve the anemia in 80% of patients, but individuals often become intolerant to long-term corticosteroid therapy and turn to regular red blood cell transfusions, which is the only available standard therapy for the anemia. <ref name="pmid30503522">{{cite journal |vauthors=Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT |title=The Genetic Landscape of Diamond-Blackfan Anemia |journal=Am. J. Hum. Genet. |volume=103 |issue=6 |pages=930–947 |date=December 2018 |pmid=30503522 |pmc=6288280 |doi=10.1016/j.ajhg.2018.10.027 |url=}}</ref>Chronic [[glucocorticoid]] therapy predisposes patients to iatrogenic [[Cushing syndrome]] and [[adrenal insufficiency]]. | |||
*[[Bone marrow transplantation]] (BMT) | |||
**It is the only curative treatment for the [[anemia]] of [[DBA]]. This option may be considered when patients become transfusion-dependent because frequent transfusions can lead to iron overloading and [[organ]] damage. This can be done using an unaffected sibling or an unrelated donor. | |||
**Chronic [[blood transfusions]] place patients at risk for the [[iron overload]] of the [[liver]], [[heart]], and [[endocrine]] organs. [[Growth failure]], [[osteopenia]], [[diabetes mellitus]], and failure of the [[thyroid]], [[parathyroids]], [[Adrenal|adrenals]], [[gonads]], and [[pituitary gland]] may be related to therapy.<ref name="pmid26496000">{{cite journal |vauthors=Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A |title=Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR) |journal=Pediatr Blood Cancer |volume=63 |issue=2 |pages=306–12 |date=February 2016 |pmid=26496000 |pmc=4829065 |doi=10.1002/pbc.25780 |url=}}</ref> | |||
*[[Hematopoietic stem cell transplant]] ([[HSCT]]) is the sole curative option, but carries significant [[morbidity]] and is generally restricted to those with a matched related [[donor]].<ref name="pmid16041310">{{cite journal |vauthors=Roy V, Pérez WS, Eapen M, Marsh JC, Pasquini M, Pasquini R, Mustafa MM, Bredeson CN |title=Bone marrow transplantation for diamond-blackfan anemia |journal=Biol. Blood Marrow Transplant. |volume=11 |issue=8 |pages=600–8 |date=August 2005 |pmid=16041310 |doi=10.1016/j.bbmt.2005.05.005 |url=}}</ref> | |||
*Ultimately, 40% of case subjects remain dependent upon [[corticosteroids]] which increase the risk of [[heart disease]], [[osteoporosis]], and severe [[infections]]. 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. | |||
===[[Remission]]=== | |||
*Periods of [[remission]] may occur, during which [[transfusions]] and steroid treatments are not required. [[Remission]] defined as an adequate [[Hemoglobin]] level without any treatment, lasting 6 months, independent of prior therapy. 72% of patients experience remission during the first decade of life. Some of them have more than one remission in their life. [[Relapses]] usually occur after a [[viral]] illness. | |||
*Some patients who have such mild signs and symptoms do not require treatment.[https://doi.org/10.1182/blood.V112.11.3092.3092] | |||
===Cancer treatment=== | |||
Treatment of [[MDS]], [[AML]], or other cancer which may be seen in patients with [[DBA]]. | |||
==Managment of related-therapies complications:== | |||
===[[Iron chelation]]=== | |||
*Usually started after ten to 12 transfusions (170-200 mL/kg of packed red blood cells), when serum [[ferritin]] concentration reaches 1,000-1,500 µg/L, or when the [[hepatic]] [[iron]] concentration reaches 6-7 mg/g of dry weight liver tissue | |||
**[[Deferasirox]] is recommended in individuals age two years or older. | |||
**[[Desferrioxamine]] | |||
[[ | ===Corticosteroids side effects:=== | ||
One of the critical side effects of [[corticosteroids]] is [[growth retardation]]. If growth retardation is severely impaired, [[corticosteroid]]s should be stopped.<ref name="pmid20301769">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Clinton C, Gazda HT |title= |journal= |volume= |issue= |pages= |date= |pmid=20301769 |doi= |url=}}</ref> | |||
==References== | ==References== | ||
Latest revision as of 02:56, 26 September 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Patients with DBA are treated with corticosteroid therapy, Red blood cell transfusion, Stem cell transplantation, Cancer treatment, and management of related-therapies complications.
Medical Therapy
- Red cell transfusions
- Transfusions are usually the mainstay of treatment for the first year of life for the anemia of DBA. Also, Red blood transfusions are used for those patients who do not respond to corticosteroid treatment.
- Corticosteroid therapy
- After the first year patients are started on a course of treatment with corticosteroids and it remains the mainstay of treatment after the original report of their efficacy. Although many side effects of corticosteroids were noted in patients under treatment of it.[1] Treatment with corticosteroids can improve the anemia in 80% of patients, but individuals often become intolerant to long-term corticosteroid therapy and turn to regular red blood cell transfusions, which is the only available standard therapy for the anemia. [2]Chronic glucocorticoid therapy predisposes patients to iatrogenic Cushing syndrome and adrenal insufficiency.
- Bone marrow transplantation (BMT)
- It is the only curative treatment for the anemia of DBA. This option may be considered when patients become transfusion-dependent because frequent transfusions can lead to iron overloading and organ damage. This can be done using an unaffected sibling or an unrelated donor.
- Chronic blood transfusions place patients at risk for the iron overload of the liver, heart, and endocrine organs. Growth failure, osteopenia, diabetes mellitus, and failure of the thyroid, parathyroids, adrenals, gonads, and pituitary gland may be related to therapy.[3]
- Hematopoietic stem cell transplant (HSCT) is the sole curative option, but carries significant morbidity and is generally restricted to those with a matched related donor.[4]
- Ultimately, 40% of case subjects remain dependent upon corticosteroids which increase the risk of heart disease, osteoporosis, and severe infections. 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.
Remission
- Periods of remission may occur, during which transfusions and steroid treatments are not required. Remission defined as an adequate Hemoglobin level without any treatment, lasting 6 months, independent of prior therapy. 72% of patients experience remission during the first decade of life. Some of them have more than one remission in their life. Relapses usually occur after a viral illness.
- Some patients who have such mild signs and symptoms do not require treatment.[2]
Cancer treatment
Treatment of MDS, AML, or other cancer which may be seen in patients with DBA.
Iron chelation
- Usually started after ten to 12 transfusions (170-200 mL/kg of packed red blood cells), when serum ferritin concentration reaches 1,000-1,500 µg/L, or when the hepatic iron concentration reaches 6-7 mg/g of dry weight liver tissue
- Deferasirox is recommended in individuals age two years or older.
- Desferrioxamine
Corticosteroids side effects:
One of the critical side effects of corticosteroids is growth retardation. If growth retardation is severely impaired, corticosteroids should be stopped.[5]
References
- ↑ Vlachos A, Klein GW, Lipton JM (2001). "The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia". J. Pediatr. Hematol. Oncol. 23 (6): 377–82. PMID 11563775.
- ↑ Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT (December 2018). "The Genetic Landscape of Diamond-Blackfan Anemia". Am. J. Hum. Genet. 103 (6): 930–947. doi:10.1016/j.ajhg.2018.10.027. PMC 6288280. PMID 30503522.
- ↑ Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A (February 2016). "Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR)". Pediatr Blood Cancer. 63 (2): 306–12. doi:10.1002/pbc.25780. PMC 4829065. PMID 26496000.
- ↑ Roy V, Pérez WS, Eapen M, Marsh JC, Pasquini M, Pasquini R, Mustafa MM, Bredeson CN (August 2005). "Bone marrow transplantation for diamond-blackfan anemia". Biol. Blood Marrow Transplant. 11 (8): 600–8. doi:10.1016/j.bbmt.2005.05.005. PMID 16041310.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Clinton C, Gazda HT. PMID 20301769. Vancouver style error: initials (help); Missing or empty
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