Hereditary factor VIII deficiency

D66

Clinical Vignette:

Patient Profile:

* Age: 6 years old

* Sex: Male

* Name: Benjamin

History of Present Illness:

Benjamin, a lively 6-year-old boy, presented to the clinic with his parents due to concerns about easy bruising and prolonged bleeding from minor wounds. Benjamin's parents first noticed the issue when he started attending kindergarten and regularly engaged in outdoor activities. Minor bumps and scratches that other kids easily shrugged off seemed to leave Benjamin with large, painful bruises and small wounds that took a long time to stop bleeding.

The parents also reported an incident from a couple of weeks ago where Benjamin had a tooth extraction. The site bled more than expected and took several days to completely stop, causing great alarm. Benjamin's medical history was otherwise unremarkable, but his maternal grandfather was known to have had a similar bleeding disorder.

Physical Examination:

Upon examination, multiple bruises at various stages of healing were observed on Benjamin's extremities. He appeared otherwise healthy and active, with growth parameters in the normal range for his age.

Investigations and Diagnosis:

Considering the family history and Benjamin's symptoms, a bleeding disorder was suspected. A complete blood count (CBC), prothrombin time (PT), and activated partial thromboplastin time (aPTT) were ordered. While CBC and PT were within normal limits, aPTT was significantly prolonged. Further clotting factor assays showed a reduced factor VIII activity level.

With these results, Benjamin was diagnosed with hereditary factor VIII deficiency, also known as Hemophilia A. Hematological consult was sought, and a treatment plan including factor VIII replacement therapy was initiated. Benjamin and his parents were also given education about the disease, its management, and precautions to minimize bleeding risks.

Diagnosis and ICD-10-CM Code:

Hereditary factor VIII deficiency (D66)