Scenerio
A 10-year-old male patient presents to your clinic with a nose bleed that has been actively bleeding for more than two hours. The patient states he was running around the corner of his house and ran into his sibling and his nose began to bleed. The bleeding is not profuse, but is a steady stream and has not responded to applied pressure externally or to the application of ice externally. The patient denies any internal attempts to stop the flow of blood. Demographic information noted that the patient lived at home with both parents and his two younger sisters, had no previous medical history and neither parent had any significant medical history. During additional questioning about medical history, the patient’s parents reveals that the patient has always been a “bleeder”. Upon further questioning for clarification, they patient’s parents explains that the patient has always bled more than his siblings even with the smallest of injuries. After exam and further testing you find that the patient has Hemophilia A. The patient’s parents are confused and have many questions concerning how the patient developed this disorder and why it was not discovered before.
Patient Factor
In this scenario the patient factor I chose to discuss is gender. An individual’s gender can have many influences on different disorders, specifically those caused by genetic factors. Hemophilia is one of those disorders. Hemophilia is an X-linked recessive trait disorder that affects males but not the female carriers (Hammer & McPhee, 2019). In females, the X chromosome received from the mother has the recessive allele but the X chromosome from the father has a normal allele essentially cancelling out the recessive trait (Huether & McCance, 2017). Because males only have one X chromosome and Y chromosomes do not carry a normal allele the males are the ones affected by the recessive trait. The severity is related to the exact amount of either factor VIII (type A) or factor IX (type B) that an individual is lacking. Females have at least 50% of the required amount of either factor and therefore are unaffected by the deficiency (Hammer & McPhee, 2019). This disorder is also affected by the quantity of the factor available in their bodies. Hemophilia is one of the disorders that is labeled as a quantitative disorder, because the severity of the disorder is related to the level of deficiency in each individual rather than a complete lack of the factor (Hammer & McPhee, 2019). Most severe cases of either Hemophilia A or B are diagnosed in the neonatal period, however less severe case may take years to be diagnosed (Lee, Berntorp, Hoots, & Tuddenham, 2014).
Pathophysiology
The pathophysiology of Hemophilia is related to the lack of clotting factors needed to stop bleeding once it occurs. Clotting factors are proteins that are found throughout the vascular system in an inactive form. When there is damage to vascular bodies bleeding occurs and the clotting factors are then exposed to a substance called thromboplastin released by the damaged tissue. This interaction of thromboplastin and the clotting factors cause the formation of a clot occurs to block of the damaged areas and prevent further loss of blood into the surrounding tissue or out of the body depending on the nature of the injury (Huether & McCance, 2017). When there is a decrease or a lack of these clotting factors, the body is unable to form clots that will prevent continued bleeding from injury. For those suffering from Hemophilia, specifically the lack of clotting factors VIII or IX are the causative factors.
Conclusion
In the scenario described above, the reason that the child’s hemophilia was not detected prior to this injury was related to several potential factors. The first factor is the likelihood that the child had a very mild form of the disorder related to the quantitative level of his factor VIII deficiency. Second, because females are only carriers, unless he had male relatives who had been previously diagnosed, there would be no suspicion that this disease was a concern for this patient. A thorough history in these cases can help point you in the right directions for testing and eventual diagnosis.
References
Hammer, G. D., & McPhee, S. J. (2019). Pathophysiology of disease: An introduction to clinical
medicine (8th ed.). New York, NY: McGraw-Hill Education
Huether, S. E., & McCance, K. L. (2017). Understanding pathophysiology (6th ed.). St. Louis,
MO: Mosby
Lee, C. A., Berntorp, E., Hoots, K., & Tuddenham, G. D. (2014). Textbook of hemophilia.
Chichester, England : Wiley-Blackwell, 2014. Retrieved from https://search-ebscohost
com.ezp.waldenulibrary.org/login.aspx?direct=true&db=cat06423a&AN=wal.EBC1680
89&site=eds-live&scope=site