Creation of congenital intrahepatic arterioportal fistula (IAPF)

[OrphanetDE]

Dear all,

could you please consider to add <congenital intrahepatic arterioportal fistula (IAPF)> to the database. A rare disease centre in Germany is requesting this entity for a coding issue. Please find relevant publication below:

PMID: 25717263 Portal hypertension induced by congenital hepatic arterioportal fistula: report of four clinical cases and review of the PMID: 9298386 Hepatic Arterioportal Fistula: A Curable Cause of Portal Hypertension in Infancy PMID: 16877994 The congenital intrahepatic arterioportal fistula syndrome: elucidation and proposed classification (unfortunately no free access)

Many thanks in advance!

kind regards, Kathrin (Orphanet DE)

[MCecile-US14]

Dear Kathrin,

After review of your request I think you missed one Orphanet entity that can be used for coding diagnosis of 'congenital intrahepatic arterioportal fistula': 'Congenital systemic arteriovenous fistula' [Disorder - Morphological anomaly] ORPHA:2039 included in the large Rare vascular disease group of Disorders. As stated in Orphanet' short description it include hepatic fistula "Congenital systemic arteriovenous fistula is a rare, potentially life-threatening, vascular malformation characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall)..."

Hope this clarify your issue, Kind Regards, Marie-Cécile

[OrphanetDE]

Dear Marie-Cécile, thanks for your reply. We were well aware of ORPHA:2039, but wasn't sure if this concept really matches this special form. We now would like to suggest to add IAPF as child to this diesease (maybe changing ORPHA:2039 to a group of disorder) as the symptoms are specific, treatment of this disease is very special and prevalence data cannot be assigned otherwise. Thanks for reconsidering the proposal. kind regards Kathrin

[MCecile-US14]

Dear @OrphanetDE,

As discussed today in open session and as it was pre discussed in Orphanet meeting ORPHA:2039 does include 'IAFP' you are describing in its clinical perimeter. The major issue here is the classifcation, because there is many artevenous fistula affecting numerous location/system and most of them are rare. It is not reasonable to create this one as for the matter of representation we will have to create all of the other types of "Congenital xxx organ/location arteriovenous fistula" that from what is seen in the litterature, the therapeutical (surgical) care seems quite common.

So please in the mean time provide us references that can help us distinguish the child IAFP from others; justifying its creation as a single entity. As for the naming I understood that "Congenital systemic arteriovenous fistula" and the term "systemic" here needs to be modified to help clarification.

Thank you, Kind regards, Marie-Cécile

[OrphanetDE]

Dear Marie-Cécile,

thanks a lot for the feedback! Concerning the concept ORPHA:2039 Congenital systemic arteriovenous fistula it it not clear to me whether the already existing entities ORPHA:97339 [Dural sinus malformation] Syn: Cranial dural arteriovenous fistula and ORPHA:2038 [Pulmonary arteriovenous malformation] Syn: Pulmonary arteriovenous fistula might already be subtypes ? If yes, it might be helpful to distinguish the different subtypes by their location.. kind regards Kathrin