ORPHA:693846
Hepatic arteriovenous malformation
Also known as: Arteriovenous malformation of the liver · Congenital hepatic arteriovenous malformation · HAVM
Clinical definition (Orphanet)
A rare visceral arteriovenous characterized by direct arterial-to-venous connections within the liver. Patients may be asymptomatic or present with symptoms such as anemia, consumptive coagulopathy, portal hypertension, and may develop complications including congestive heart failure, necrosis of the liver or hydrops fetalis.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
128
128 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
128 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
75 in the last 10 years · medium confidence · 62.3th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
713
Distinct author names in 128 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Dupuis-Girod S5 papers · 2023
Hospices Civils de Lyon, Centre de Référence pour la maladie de Rendu-Osler, Hôpital Femme-Mère-Enfants, Bron, France. sophie.dupuis-girod@chu-lyon.fr.
Papers in Europe PMC - 02Decullier E3 papers · 2023
Unité de recherche clinique du pole IMER of the Hospices Civils de Lyon, Lyon, France.
Papers in Europe PMC - 03Letarte M3 papers · 2006Papers in Europe PMC
- 04Abdalla SA2 papers · 2006
Cancer Research Program, The Hospital for Sick Children, and Department of Immunology, University of Toronto, Toronto, Canada. mablab@sickkids.ca
Papers in Europe PMC - 05
- 06Clevert DA2 papers · 2020
Department of Radiology, University Hospital LMU, Marchioninistrasse 15, 81377 Munich, Germany.
Papers in Europe PMC - 07Delagrange L2 papers · 2023
Hospices Civils de Lyon, Centre de Référence pour la maladie de Rendu-Osler, Hôpital Femme-Mère-Enfants, Bron, France.
Papers in Europe PMC - 08Dupuis O2 papers · 2023
Hospices Civils de Lyon, Service de Gynécologie-Obstétrique, Hôpital Lyon-Sud, Pierre-Bénite, France.
Papers in Europe PMC - 09Eyries M2 papers · 2021
Assistance Publique-Hôpitaux de Paris, Département de Génétique, GH Pitié-Salpêtrière, Paris, France.
Papers in Europe PMC - 10Faughnan ME2 papers · 2015
Division of Respirology, Department of Medicine and Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Canada.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Hepatic arteriovenous malformation" OR "Arteriovenous malformation of the liver" OR "Congenital hepatic arteriovenous malformation"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hepatic arteriovenous malformation" OR "Arteriovenous malformation of the liver" OR "Arteriovenous malformation of liver" OR "Congenital hepatic arteriovenous malformation"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
0Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HAVM
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus