Abdul Mannan: The Case Report That Changed How I Read Bleeding Disorders
Abdul Mannan, Consultant Haematologist at Betsi Cadwaladr University Health Board, shared a post on LinkedIn:
”Before online PDFs, a single case report could take three days to reach you.
While reading a Type 2N von Willebrand disease chapter bibliography, I found the Peerlinck case report again.
As a trainee, I requested the journal volume from the library and waited three days. When it arrived, I read it in the reading hall because it could not leave the library.
Today, I opened the PDF in less than a minute.
The patient had mucocutaneous bleeding, low VWF antigen and VWF (ristocetin cofactor) activity, and preserved multimers. The result that required an explanation was FVIII of 15 IU/dL.
The report taught me three things:
• A low FVIII that is disproportionate to VWF measurements needs an explanation.
• Preserved multimers do not assess VWF-FVIII binding.
• cDNA and genomic DNA can give different answers when one allele has very low transcript expression.
The authors found impaired FVIII binding by the patient’s VWF, Arg854Gln in the putative FVIII-binding region, and very low transcript from the second allele.
That paper helped direct my interest towards inherited bleeding disorders.
It is why I wanted to share it.
Which paper from your training still changes the way you read a case?”
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