Changes to Porphyria Genetics Classifications

The classification of the pathogenicity of all genetic variants is changing.

This has implications for porphyria in that clinical and biochemical information will be needed when requesting genetic testing.

See the 2017 UK Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification located here.

 

2018 Porphyria Safe Drug List

The 2018 Porphyria Safe Drug list has been published and can be accessed on the UK Porphyria Medicines Information Service (UKPMIS) website: www.wmic.wales.nhs.uk/specialist-services/drugs-in-porphyria/

 

Updated Best Practice Guidelines for Acute Attacks of Porphyria

We have reviewed and updated the 2013 BIPNET guidelines for the clinical management of acute attacks of porphyria and their complications. As stated in the 2013 guidelines, the new 2017 consensus update is posted here:

 A National Acute Porphyria Service (NAPS) emergency management protocol for an acute porphyria attack can also be found on the BIMDG website here.

Welcome to the new Co-chairperson

We are pleased to announce that Dr Penelope Stein (King’s College Hospital, London) and Dr Robert Sarkany (St John’s Institute of Dermatology, London) have agreed to be the new Co-Chairpersons of BIPNET, following the retirement of Dr Joanne Marsden.


Jackie Woolf (Cardiff) will continue as BIPNET Secretary.

 

Withdrawal of Thermo Scientific Trace PBG kit

BIPNET have issued a response to the withdrawal of the Thermo Fisher Scientific urine Porphobilinogen (PBG) test kit.

This kit is currently used as the first line test for the investigation of suspected acute porphyria in many laboratories.  Please refer to the document (linked here and below), for advice on a suitable alternative kit.

If you would like any further advice please contact one of the BIPNET specialist laboratories who use this method themselves (details inside the document)

A copy of the advice brief can be found here.

  

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