In: Biology
CASE STUDY -- A 20-year-old man presents with multiples large bruises, often following minor injuries. His haemostasis screening test shows a normal platelet count, PT and aPTT.
Question: Discuss what further investigations you would do and justify the reasons for doing the investigations.
CASE STUDY -- A 20-year-old man presents with multiples large bruises, often following minor injuries. His haemostasis screening test shows a normal platelet count, PT and aPTT.
Answer-
1) If during diagnosis all baseline screening tests show normal reports then firstly, it is necessary to examine the family history of patient.
2) Secondly, tests for deficiency of factor XIII and alpha 2- antiplasmin deficiency should be carry out. These deficiencies are not detectable in normal haemostasis screening tests. For diagnosis of factor XIII deficiency clot solubility test is recommended. While, for alpha 2- antiplasmin activity chromogenic assays are done.
3) There are many cases where patients having history of bruises and bleeding have normal haemostasis screening test reports.
4) If all tests are normal, patients are recommended doing tests and evaluation of abnormalities related to blood vessels. There are cases where results of coagulation system are normal but patients are still having abnormal bleeding and bruises. Tests for vascular integrity are recommended in this case.
5) Blood vessel disorders are genetically related. They can be hereditary such as Ehlers-Danlos Syndrome, Henoch-Schoenlein purpura and haemorrhagic telangiectasia.