Factor XIII Deficiency (Fibrin Stabilizing Factor Deficiency)
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1 Helthline VOLUME 18 Corm s Continuing Eduction Progrm Fctor XIII Deficiency (Firin Stilizing Fctor Deficiency) Fctor XIII (FXIII) is protein mde y the ody tht stilizes the formtion of lood clot. When FXIII is deficient, clot will still develop, ut it will remin unstle nd the formed clot will eventully rek down nd cuse recurring leeds. FXIII is vitl in the process of cogultion, s evidenced y symptoms tht occur in ptients who re homozygously deficient in FXIII or hve ntiodies tht disrupt the function of FXIII. FXIII is clerly involved in the clot preservtion side of the delicte lnce etween clot formtion nd stility nd clot degrdtion. FXIII deficiency, lso clled firin stilizing fctor deficiency, is the rrest of ll fctor deficiencies with ntionl estimte of one in five million irths. FXIII deficiency ffects oth mles nd femles eqully, s well s ll rcil nd ethnic groups. FXIII deficiency cn e cquired or inherited. When inherited, it is n utosoml recessive disese. Bleeding cused y deficiency of FXIII is typiclly ssocited with trum. Inherited FXIII Deficiency A crrier of FXIII deficiency is descried s n individul who is not ffected y the disese, ut who crries the defective gene. If the prents of n individul with inherited FXIII deficiency do not hve the condition themselves, they would oth e considered crriers of the defective gene. Inherited FXIII deficiency cn e pssed on in the following wys: Two prent crriers would hve : 1 in 4 chnce of hving child with severe fctor XIII deficiency 1 in 2 chnce of hving child who is crrier 1 in 4 chnce of hving child who is norml One prent with fctor XIII deficiency nd one prent who is non-crrier (norml) would hve: Children who re crriers One prent with fctor XIII deficiency nd one prent who is crrier would hve : 1 in 2 chnce of hving child who is crrier 1 in 2 chnce of hving child with fctor XIII deficiency FXIII Deficiency nd Cuse of Bleeding Clotting is very complex process tht mkes it possile to stop n injured lood vessel from leeding. When lood vessel is injured, the cogultion process strts to form plug. The pltelets re first to rrive t the injury site; they clump together nd stick to the wll of the vessel. The pltelets then give off chemicl signls for help to other pltelets, s well s to clotting fctors. Clotting fctors re tiny plsm proteins tht link together to form firin, strnds of plsm proteins tht weve mesh round the pltelets to prevent them from returning to the loodstrem. Should the firin mesh rek, leeding will reoccur; this cn occur hours or dys postinjury. FXIII helps stilize the firin mesh y mking the individul fiers solid, which helps prevent them from reking wy. The FXIII protein consists of two prts: one prt is produced in the one mrrow, nd the other in the liver. A liver trnsplnt cn serve s cure for individuls dignosed with FVIII or IX deficiency, ecuse those fctors re produced in the liver. However, ecuse FXIII is produced in oth the liver nd one mrrow, no cure is ville. Dignosis When norml leeding is identified in ptient, the first test used is clotting test. However, this stndrd test cnnot e used to dignose FXIII deficiency, s norml result will show in the presence of this condition. Therefore, the following tests re used to dignose FXIII: Stility testing: This is the most commonly used screening method. A lood smple is tken nd llowed to clot. Once the clot forms, it is suspended in solution. When FXIII is present, the clot remins stle fter 24 hours. If FXIII is not present, the clot dissolves within minutes. FXIII levels of cormhc.com/ce CEDept@cormhc.com
2 1% to 3% cn e enough to stilize the clot. For ptients with milder FXIII deficiencies or those who hve hd recent trnsfusions, the results my still e norml, despite the presence of the FXIII deficiency. Assy tests: These two tests ssess the ctivity of FXIII y mesuring the mount of certin chemicls tht re produced when FXIII is working correctly. Enzyme-linked immunosorent ssy (ELISA): This test is used to determine the levels of FXIII in the lood. If FXIII is present, the solution will chnge color. Symptoms In 80% of neworn FXIII deficiency cses, persistent leeding from the umilicl stump is found in the first few dys fter irth. Bleeding my lso e experienced in soft tissue nd will pper s ruise, which is nother common symptom of FXIII deficiency. Less common leeds tht occur in out 30% of ptients with severe FXIII deficiency include: Centrl nervous system leeding (rin or spinl cord), which cn occur with or without injury nd is considered life thretening Mouth leeds Intrmusculr leeds (ccumultion of lood in muscle), which cn occur fter strenuous exercise even without injury Bleeding from lcertion (cut) Bleeding round the joints, which is clled perirticulr leeding (leeding into joints, which is clled hemrthrosis, is rre) Prolems during pregnncy (including recurrent miscrriges) Poor wound heling Anorml leeding during or fter surgery or injury Tretment To control nd prevent leeding due to FXIII deficiency, slight increse in the mount of FXIII is required. Also, preventive therpy is recommended, due to the high risk of leeding into the rin. Infusion therpy is provided to ptients with FXIII deficiency regrdless of signs of leeding. In the pst, the recommended tretment ws to provide plsm nd cryoprecipitte to ptients on monthly sis. Due to the risk of virl trnsmission nd severe llergic rection, oth of these tretments re no longer recommended. Plsm is lso no longer recommended ecuse of the vriility in the mount of FXIII ville in ech g of plsm. The current recommended tretment is FXIII concentrte. This is frozen dried powder tht is mixed with sterile wter nd then infused. The concentrte is developed from donted pooled plsm nd is then progressed through virl inctivtion process, where it is tested to ensure tht it is free of viruses. The hlf-life of FXIII is 8 to 10 dys, which mens tht hlf of the FXIII dministered disppers y 8 to 10 dys fter infusion. After out 28 to 30 dys, the fctor XIII level should e ck to the originl dignosed level. This is why monthly tretments re necessry to stilize ny norml leeding. Hlf-life testing is required prior to estlishing tretment pln. Similr to treting for FVIII nd FIX deficiencies, the entire vil should e infused, s slightly higher dose thn trgeted is hrmless. FXIII ptients enefit from selfinfusion eduction, which helps foster independence nd helps eliminte the inconvenience of visiting helthcre center monthly for prophylctic tretment. However, should n injury occur, it is vitl tht the ptient notifies his or her physicin, nd should e seen t hospitl for evlution nd possile tretment. The two concentrtes ville nd pproved y the FDA re Corifct, plsm derived product y CSL Behring nd Tretten, recominnt product y NovoNordisk. Bleeding Episode Fcts for Fctor XIII FXIII deficiency leeds re different thn those cused y hemophili. Bleeding from the umilicl cord nd intrcrnil hemorrhges re the most common leeding episodes experienced y ptients with FXIII deficiency. Corifct Fctor XIII Concentrte Adult Dosing nd Uses Dosing Form nd Strengths Powder for reconstitution, injection: 1,000 1,600 units/single-use vil Congenitl Fctor XIII Deficiency Indicted for routine prophylxis of congenitl fctor XIII deficiency Initil dose: 40 units/kg IV; infuse t rte not to exceed 4 ml/min Susequent doses re dministered q28d nd re sed on mintining trough FXIII ctivity level t ~5 20% (use Berichrom ctivity ssy) Dosing djustments: y One trough level <5%: Increse y 5 units/kg y Trough level 5 20%: No chnge y Two trough levels >20%: Decrese y 5 units/kg y One trough level >25%: Decrese y 5 units/kg 2 Corm s Continuing Eduction Progrm
3 Joint nd muscle leeds re less frequent with FXIII deficiency thn with FVIII or FIX deficiencies. Prophylctic therpy is more effective with FXIII deficiency due to the hlf-life of FXIII, which is 8 to 10 dys. Bsed on the results of previous studies on FXIII, there is lmost no leeding when FXIII concentrte is given in dequte doses t suitle intervls. In FXIII deficiency, s with FVIII nd IX deficiency, ny leeds to the hed, neck, chest or domen re life-thretening nd require immedite medicl ttention. The following re signs nd symptoms for lifethretening leeds: Hed hedche, nuse nd vomiting, vision chnges, sleepiness Neck pin in neck or throt, swelling, difficulty swllowing nd rething Chest pin in chest, coughing or spitting up lood, difficulty rething Adomen dominl or low ck pin, nuse or vomiting, lood in urine or stool In soft tissue leeds, look for n increse t the injury site of the following: Redness Discolortion Swelling nd pin Signs of joint leeds include: Pin Swelling Decresed rnge of motion Limited use of ffected joint nd/or extremity The R.I.C.E method should e used to reduce the pin nd discomfort of joint or muscle leeds: Rest: Rest the ffected extremities with the use of crutches or sling. Ice: Apply ice to the injured site, usully for 15 minutes every 2 hours, to help reduce swelling t the ffected re. Compression: Apply compression to the ffected lim y using n elstic ndge. This will lso help reduce swelling. Note: After pplying the ndge, check the fingers or toes for numness, chnges in temperture, or tingling. These symptoms could e cused if the ndge is pplied too tightly. If these symptoms occur, loosen or remove the ndge to see if the symptoms resolve. Elevtion: Rising the ffected extremity ove the hert cn help decrese swelling nd improve circultion. Conclusion FXIII deficiency is rre disorder tht ffects oth femles nd mles eqully. As with hemophili, ptients with FXIII deficiency hve the risk of life-thretening leeding, which requires immedite medicl ttention nd fctor infusion. With the use of prophylctic therpy for FXIII deficiency, ptients cn led norml lifestyle nd prticipte in sports if pproved y their physicin. As with ptients who hve ny leeding disorder, individuls with FXIII deficiency should e monitored t fcility tht is knowledgele nd specilizes in the tretment of leeding disorders. References: 1. NHF (2006) Fctor XIII Deficiency. Retrieved in Accessed from 2. Fctor XIII (2012). Wht is Fctor XIII? Retrieved in Accessed from 3. Brckmnn H nd Ivskevicius V. Fctor XIII An Inherited Bleeding Disorder. (2007) Cndin Hemophili Society. 4. Medscpe (2012) Fctor XIII Concentrte, Humn (Rx). Retrieved in Accessed from drug/corifct-fctor-xiii-concentrtehumn Schwrtz R nd Bes E. Fctor XIII. (July 11, 2012). Retrieved in Accessed from medscpe.com/rticle/ overview. Volume 18 3
4 Self-Assessment Quiz: Fctor XIII Deficiency (Firin Stilizing Fctor Deficiency) LEARNING GOAL To understnd fctor XIII or firin stilizing fctor deficiency, its contriuting genetic fctors, symptoms of leeds, nd tretment methods with prophylctic use of fctor XIII concentrtes. LEARNING OBJECTIVES Upon completion of this continuing eduction progrm, the reder will e le to: 1. Understnd nd recognize erly signs of fctor XIII deficiency. 2. Identify signs nd symptoms of leeding episodes. 3. Determine tretment options for fctor XIII deficiency ptients. SELF-ASSESSMENT QUESTIONS In the Quiz Answers section on the next pge, circle the correct nswer for ech question. To otin two (2.0) contct hours towrd CE credit, the pssing score is 100%. Return your Self-Assesment Quiz to Corm vi emil, fx or mil. See the next pge for detils on how to return to your quiz. Plese llow pproximtely seven dys to process your test nd receive your certificte upon chieving pssing score. 1. Fctor XIII deficiency:. Is rre. Is equl in femles nd mles c. Affects ll rcil nd ethnic groups d. All of the ove 2. To inherit fctor XIII deficiency, oth prents must e crriers.. True. Flse 3. The fctor XIII protein is found in the:. Liver. Spleen c. Bone mrrow d. A nd C 4. The most common symptom of fctor XIII deficiency is:. Joint leed. Muscle leed c. Persistent leeding from the umilicl stump fter irth d. Centrl nervous system leeds 5. The hlf-life of fctor XIII is: hours. 5 8 dys c hours d dys 6. A person with less thn 2% of the norml mount of fctor XIII is considered to hve fctor XIII deficiency.. True 7. After surgery, leeding due to fctor XIII deficiency will occur hours to dys fter the procedure insted of during surgery.. True 8. The usul prophylctic therpy for ptient with fctor XIII deficiency is weekly infusion.. True 9. Liver trnsplnt is cure for fctor XIII deficiency.. True 10. The stility test is the most commonly used screening method.. True 4 Corm s Continuing Eduction Progrm
5 Helthline VOLUME 18 Corm s Continuing Eduction Progrm Fctor XIII Deficiency (Firin Stilizing Fctor Deficiency) QUIZ ANSWERS Fill in the key elow with the correct nswers to receive 2.0 Continuing Eduction credits.* c d c d c d c d *Accredittion Informtion Provider pproved y the Cliforni Bord of Registered Nursing, Provider Numer for 2.0 contct hours. Corm CVS Specilty Infusion Services is pproved y the Delwre Bord of Nursing, Provider Numer DE Corm CVS Specilty Infusion Services is pproved y The Commission for Cse Mnger Certifiction to provide continuing eduction credit to CCM ord certified cse mngers Corm LLC COR To otin Continuing Eduction credits, plese complete this informtion in full. Plese print clerly. Nme: Address: City: Stte: Zip: License Numer (required to receive CEs): RN LPN Certified Cse Mnger Employer: Work Phone: Corm Representtive: Dte: Ws this mteril: Useful in your prctice? Yes No Comprehensive enough? Yes No Well orgnized? Yes No Certificte delivery: I would like my certificte miled to the ddress provided ove. I would like my certificte emiled to me t: (ex: john.smith@cormhc.com) RETURN THIS PAGE TO CORAM VIA: Mil: Corm s CE Deprtment E Arphoe Rod, Suite A Centennil, CO Fx: SUBMIT FORM VIA CEDept@cormhc.com cormhc.com/ce CEDept@cormhc.com
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