Diamond-Blackfan anemia history and symptoms: Difference between revisions

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==Overview==
==Overview==
==Diamond-Blackfan anemia history and symptoms==
Patients with DBA may have a positive family history of [[Diamond-Blackfan anemia|DBA]]. The symptomatic onset of Diamond-Blackfan anemia becomes apparent during the first year of life. The most common symptoms of DBA include: [[fatigue]], [[weakness]], and an abnormally [[Pallor|pale appearance]] ([[pallor]]). Approximately half of DBA cases have [[Congenital]] [[malformations]], in particular [[craniofacial]], [[Upper limbs|upper-limb]], [[heart]], and [[genitourinary]] [[malformations]].Patients with Non-classic DBA presents with [[mild]] or absent [[anemia]] with only subtle indications of [[erythroid]] abnormalities such as [[macrocytosis]], elevated [[Adenine deaminase|ADA]], and/or elevated [[Hemoglobin F|HbF]] concentration, and have mild [[anemia]] beginning later, in childhood or in adulthood, while others have some of the physical features but no [[bone marrow]] problems. Minimal or no evidence of [[congenital anomalies]] or [[short stature]].


'''History'''
==Diagnosis==
*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>
===Study of Choice===
'''Symptoms'''
Diagnosing [[DBA]] is usually hard due to its [[partial]] [[phenotypes]] and the wide inconsistency of clinical [[expressions]]. The International Clinical Consensus Conference stated [[diagnostic]] and supporting [[criteria]] for the [[diagnosis]] of [[DBA]]. Based on these [[criteria]], There are two types of [[Diamond-Blackfan anemia]], classical DBA and non-classical DBA. Classical [[DBA]] is made in the presence of all the [[diagnostic criteria]] and [[diagnosis]] of "non-classical DBA" in the presence of one of these [[criteria]]: i) Three [[diagnostic criteria]] and one major supporting criterion or two minor criteria; ii) Two diagnostic criteria, and three minor supporting criteria; iii) Two major supporting criteria, even in the absence of [[diagnostic criteria]].<ref name="pmid18671700">{{cite journal |vauthors=Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM |title=Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference |journal=Br. J. Haematol. |volume=142 |issue=6 |pages=859–76 |date=September 2008 |pmid=18671700 |pmc=2654478 |doi=10.1111/j.1365-2141.2008.07269.x |url=}}</ref><ref name="pmid20301295">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A |title= |journal= |volume= |issue= |pages= |date= |pmid=20301295 |doi= |url=}}</ref>
*Symptoms of anemia include  [[pallor]], [[irritability]], failure to thrive, sleepiness, poor appetite, and weakness<ref name="pmid30228860">{{cite journal |vauthors=Da Costa L, Narla A, Mohandas N |title=An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia |journal=F1000Res |volume=7 |issue= |pages= |date=2018 |pmid=30228860 |pmc=6117846 |doi=10.12688/f1000research.15542.1 |url=}}</ref>
 
*[[Growth retardation]] (in about 30% )
===Diagnostic criteria===
*Congenital malformations, in particular [[craniofacial]], [[upper-limb]], heart, and [[genitourinar]]y malformations:(~30%-50%):
*[[Normochromic]], often [[macrocytic anemia]] developing in the first year of life
*Profound [[reticulocytopenia]]
*Normocellular [[bone marrow]] with selective deficiency of [[erythroid]] precursors
*Normal or slightly reduced [[leukocyte]] count
*Normal or slightly increased [[platelet]] count
*'''Major supporting criteria'''
**Gene mutation described in ‘‘classical’’ DBA
**Positive family history
*'''Minor supporting criteria'''
**Elevated erythrocyte [[adenosine deaminase]] activity
**Congenital anomalies described in ‘‘classical’’ DBA
**Elevated [[Hemoglobin F|HbF]]
**No evidence of another [[inherited]] [[bone marrow failure |bone marrow failure]] [[syndrome]]
__NOTOC__
<br />
{| class="wikitable"
|+
|'''Classical DBA'''
 
All diagnostic criteria are met
 
 
'''Probable DBA'''
 
3 Diagnostic criteria + positive family history
 
OR
 
2 Diagnostic criteria + 3 minor criteria
 
OR
 
3 Minor criteria + positive family history
 
 
'''Non-classical DBA'''
 
DBA associated gene mutation without sufficient diagnostic criteria
|}
 
===History and symptoms===
 
===History===
Patients with [[DBA]] may have a positive family history of [[Diamond-Blackfan anemia|DBA]]. The symptomatic onset of [[Diamond-Blackfan anemia]] becomes apparent during the first year of life. A positive family history of [[DBA]]  is suggestive of DBA.
 
===Common symptoms of Classic DBA:===
*[[Symptoms]] of [[anemia]] include [[fatigue]], [[weakness]], and an abnormally [[Pallor|pale appearance]] ([[pallor]]).
*The [[symptomatic]] onset of [[Diamond Blackfan disease|Diamond Black-fan anemia]] becomes apparent during the first year of life
*Approximately half of [[DBA]] cases have [[Congenital malformations]], in particular [[craniofacial]], [[upper-limb]], heart, and [[genitourinar]]y malformations:(observed in ~30%-50%):  
**[[Microcephaly]]
**low [[frontal]] hairline
**Wide-set eyes ([[hypertelorism]])
**Droopy [[eyelids]] ([[ptosis]])
**Broad, flat bridge of the nose
**Small, [[low-set ears]]
**Small lower [[jaw]] ([[micrognathia]])
**[[Cleft palate]]
**[[Cleft lip]]
**Short, [[webbed neck]]
**Smaller and higher [[shoulder]] blades than usual
**Malformed or absent [[thumbs]]
*All [[diagnostic criteria]] are met.
 
===Common symptoms of Non-classic DBA:===
*presents with mild or absent [[anemia]] with only subtle indications of [[erythroid]] abnormalities such as [[macrocytosis]], elevated [[ADA]], and/or elevated [[HbF]] concentration
*Have [[mild]] [[anemia]] beginning later in childhood or in adulthood, while others have some of the physical features but no [[bone marrow]] problems.
*Minimal or no evidence of [[Congenital Abnormalities|congenital anomalies]] or [[short stature]].<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 01:59, 26 September 2020

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Overview

Patients with DBA may have a positive family history of DBA. The symptomatic onset of Diamond-Blackfan anemia becomes apparent during the first year of life. The most common symptoms of DBA include: fatigue, weakness, and an abnormally pale appearance (pallor). Approximately half of DBA cases have Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations.Patients with Non-classic DBA presents with mild or absent anemia with only subtle indications of erythroid abnormalities such as macrocytosis, elevated ADA, and/or elevated HbF concentration, and have mild anemia beginning later, in childhood or in adulthood, while others have some of the physical features but no bone marrow problems. Minimal or no evidence of congenital anomalies or short stature.

Diagnosis

Study of Choice

Diagnosing DBA is usually hard due to its partial phenotypes and the wide inconsistency of clinical expressions. The International Clinical Consensus Conference stated diagnostic and supporting criteria for the diagnosis of DBA. Based on these criteria, There are two types of Diamond-Blackfan anemia, classical DBA and non-classical DBA. Classical DBA is made in the presence of all the diagnostic criteria and diagnosis of "non-classical DBA" in the presence of one of these criteria: i) Three diagnostic criteria and one major supporting criterion or two minor criteria; ii) Two diagnostic criteria, and three minor supporting criteria; iii) Two major supporting criteria, even in the absence of diagnostic criteria.[1][2]

Diagnostic criteria


Classical DBA

All diagnostic criteria are met


Probable DBA

3 Diagnostic criteria + positive family history

OR

2 Diagnostic criteria + 3 minor criteria

OR

3 Minor criteria + positive family history


Non-classical DBA

DBA associated gene mutation without sufficient diagnostic criteria

History and symptoms

History

Patients with DBA may have a positive family history of DBA. The symptomatic onset of Diamond-Blackfan anemia becomes apparent during the first year of life. A positive family history of DBA is suggestive of DBA.

Common symptoms of Classic DBA:

Common symptoms of Non-classic DBA:

References

  1. ↑ Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM (September 2008). "Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference". Br. J. Haematol. 142 (6): 859–76. doi:10.1111/j.1365-2141.2008.07269.x. PMC 2654478. PMID 18671700.
  2. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A. PMID 20301295. Vancouver style error: initials (help); Missing or empty |title= (help)
  3. ↑ 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 |title= (help)
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