Reference no: EM132408450
Case: Justin D.seemed to be happy healthy 2 year old. As with many rambunctious toddlers his age, his mom, Ellen, a stay at home Mom, found it strange that her darling angel Justin was not his usual busy self today. While distracted with this change in behavior, Ellen hears a thud and then a scream. Justin trips and falls into the living room coffee table and suffers a half inch cut on his forearm. The cut seemed to be innocent enough but continues to bleed without abatement. After more than a couple blood soaked washcloths, Ellen calls her neighbor Jan to come drive her and Justin to the ER while Ellen holds pressure on Justin's arm. After arriving in the ER, the attending physician, Dr. Kimpel is quite concerned because of the extended bleeding time - it should have coagulated by now, he thought. The bleeding finally stopped shortly after arrival. While examining Justin, Dr. Kimpel notices a tender swollen left knee joint - possibly contributing to Justin's lower activity. Dr. Kimpel tells Ellen he would like to run Sme blood tests (CBC, PT, aPTT, platelet count, clotting factors & fibrinogen tests) on Justin to see if there may be a problem with Justin's coagulation system. Now Ellen is really concerned... .the results of the tests reveal:
CBC: Hct 30% [normal = 34-40%);
Hb 9.0 [normal 11.5-13 g/dl]
APPT:> 120 secs. [normal =70-120 seconds]
PT: normal
Platelet count: normal
Clotting factors: FVIII 5% [normal 50-150 %
Fibrinogen: 100 mg/dl [normal 150-400 mg/dl]
Question:
1. What is the condition that Dr. Kimpel suspects for Justin? Provide a definition. What specific type of condition do the test results indicate?
2 What specific part of the Coagulation System is affected by Justin's deficiency? How does it affect production of fibrinogen? Explain.
3. Aside froma spontaneous mutation, how did Justin acquire this condition since there is no family history? How does Ellen's genetics likely play a role in Justin's condition? What are the chances of Justin inheriting his condition? What about Justin's father?
4. What are the possible treatments for Justin? Will he have to be concerned for future off spring I ho decide to have children of his own? fluid that ic causing the swelling?