Liy-Wong et alOrphanet Journal ofOrphanet Joumal of Rare Diseases(2023)1838https:/doi.org/10.1186/s13023-022-02448-wRare DiseasesREVIEWOpen AccessConsensus guidelines for diagnosisand management of anemia in epidermolysisbullosaCarmen Liy-Wong,Cristina Tarango2,Elena Pope3,Thomas Coates,Anna L.Bruckners,James A.FeinsteinsAgnes Schwieger-Briel5,Lynne D.Hubbard',Clapham Jane,Mauricio Torres-Pradilla,Matija Zmazek1o andIrene Lara-Corrales3AbstractBackground Anemia is a common complication of severe forms of epidermolysis bullosa(EB).To date,there are noguidelines outlining best clinical practices to manage anemia in the EB population.The objective of this manuscript isto present the first consensus guidelines for the diagnosis and management of anemia in EB.Results Due to the lack of high-quality evidence,a consensus methodology was followed.An initial survey exploringpatient preferences,concerns and symptoms related to anemia was sent to EB patients and their family members.Asecond survey was distributed to EB experts and focused on screening,diagnosis,monitoring and management ofanemia in the different types of EB.Information from these surveys was collated and used by the panel to generate26 consensus statements.Consensus statements were sent to healthcare providers that care for EB patients throughEB-Clinet.Statements that received more than 70%approval(completely agree/agree)were adopted.Conclusions The end result was a series of 6 recommendations which include 20 statements that will help guidemanagement of anemia in EB patients.In patients with moderate to severe forms of EB,the minimum desirable levelof Hb is 100 g/L.Treatment should be individualized.Dietary measures should be offered as part of management ofanemia in all EB patients,oral iron supplementation should be used for mild anemia;while iron infusion is reservedfor moderate to severe anemia,if Hb levels of>80-100 g/L(8-10 g/dL)and symptomatic;and transfusion should beadministered if Hb is<80 g/L (8 g/dL)in adults and <60 g/L(6 g/dL)in children.Keywords Epidermolysis bullosa,Anemia,Recessive dystrophic epidermolysis bullosa,Iron deficiency,Chronicanemia of inflammationBackgroundEpidermolysis bullosa (EB)is a rare genetic disordercharacterized by skin fragility with blister formationoccurring spontaneously or following minor trauma suchIn memoriam,the panel extends our gratitude to Matija Zmazek,whoas gentle pressure or friction.It can be broadly dividedpassed away during the CPG development process as a result of EB-relatedinto four major subtypes:EB simplex(EBS),junctionalcomplications.(JEB),dystrophic(DEB),and Kindler EB(KEB,previouslyCorrespondence:known as Kindler syndrome)[1].EB can affect multipleCarmen Liy-Wongcliywong@cheaoncabody systems,particularly the skin,mucosae,and some-Full list of author infor mation is available at the end of the articletimes internal organs.Subtypes are determined by severalBMCThe Author(s)2023.Open AccessThis artidle is licensed undera Creative C
