Hematology

Patient Profile

Name: Alex Johnson

Age: 16

Gender: male

History of Present Illness

A.J. is a 16-year-old boy who presents to the clinic with a history of frequent, prolonged nosebleeds and bleeding after minor sports injuries, particularly after taking Ibuprofen. Symptoms started about a year after being diagnosed with Hashimoto’s thyroiditis at age 12. His mother reports that since then, he has bruised easily and had prolonged bleeding after cuts and scrapes, and when he had two wisdom teeth removed. He avoids Ibuprofen because it seems to make it worse. There is no known family history of bleeding disorders, but there is a family history of autoimmune disorders.

Physical Assessment

• Vital Signs: Normal
• General Appearance: No acute distress.
• Skin: Multiple bruises of varying ages on arms and legs.
• Nose: Clot visualized on the left anterior septum.
• Oral Cavity: Normal, no active bleeding.
• Extremities: No joint swelling or deformities, no hypermobility noted.

Diagnostic Testing

#1-5 are general tests for concerns related to a bleeding disorder.

1. Complete Blood Count (CBC): To check for anemia and thrombocytopenia. Peripheral blood smear as indicated.
2. Activated partial thromboplastin time (aPTT) test: Evaluates the intrinsic and common coagulation pathways and measures how long it takes for blood to clot.
3. Prothrombin time (PT)/INR: Evaluates extrinsic and common coagulation pathways to measure clotting time.
4. Fibrinogen test: Measures the amount of fibrinogen, a protein also called clotting factor I, which is needed for clotting.
5. Thrombin Time (TT): Measures the conversion of fibrinogen to fibrin by thrombin.
6. Alex’s PT, aPTT, and platelet count were all normal. He is slightly anemic. Follow-up blood work was ordered to evaluate for von Willebrand disease (VWD).
7. Von Willebrand Factor Antigen Test: Measures the level of von Willebrand factor (VWF) in the blood.*
8. Platelet-dependent VWF activity: Assesses the functionality of VWF.*
9. Factor VIII Clotting Activity: Measures the activity of factor VIII, which is often low in VWD.*
10. VWFr Multimers Test: Evaluates the structure of VWF.

*Recommended by the American Society of Hematology, International Society on Thrombosis and Haemostasis, and the National Bleeding Disorders Foundation specifically for VWD.

Results: VWF antigen and activity are decreased, Factor VIII is slightly reduced, and all multimers are decreased.

Diagnosis

VWD Type I

Treatment Plan

1. Referral to Hematology for follow-up.
2. Desmopressin (DDAVP): To increase the release of VWF and factor VIII from endothelial cells.
3. Avoidance of NSAIDs and Aspirin: To reduce the risk of bleeding.
4. Patient Education:
5. Discussed VWD, its genetic basis, and the importance of regular follow-up. Discussed testing for first-degree relatives who are symptomatic. Shared decision-making should be utilized for decisions about genetic testing of asymptomatic first-degree relatives.
6. Advised on avoiding activities that increase the risk of injury and bleeding, and the importance of taking prescribed medications as directed.
7. Reviewed a plan for managing bleeding episodes, including when to seek emergency care.
8. Encouraged a healthy lifestyle to minimize accidents or injuries. MedicAlert bracelet and emergency contact in phone.
9. Provided medical documentation for and encouraged a 504 plan and an emergency health plan at school and for sports participation.