Non-malignant and non-cirrhotic portal vein thrombosis

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2Active trials8Treatment centers

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Overview

Non-malignant and non-cirrhotic portal vein thrombosis (PVT) is a condition where a blood clot forms in the portal vein — the large blood vessel that carries blood from the intestines, stomach, and spleen to the liver. Importantly, this form of PVT occurs in people who do NOT have liver cancer or liver cirrhosis (scarring), which sets it apart from more common causes of portal vein clotting. The condition is also sometimes called extrahepatic portal vein obstruction (EHPVO), especially when it develops in children. When the portal vein is blocked, blood cannot flow normally to the liver. The body tries to work around the blockage by forming new, smaller blood vessels called collaterals or varices. These new vessels are fragile and can develop in the esophagus (food pipe) and stomach, where they may bleed dangerously. The spleen often becomes enlarged because blood backs up into it, which can lower blood cell counts and cause fatigue and increased infection risk. Symptoms can include vomiting blood, black tarry stools, abdominal pain, and a swollen belly. Some people are diagnosed only after a serious bleeding episode. Treatment focuses on preventing and managing bleeding, dissolving or bypassing the clot, and treating any underlying clotting disorders. With proper care, many patients — especially children — can live relatively normal lives, though ongoing monitoring is essential.

Also known as:

Key symptoms:

Vomiting blood (hematemesis)Black, tarry, or bloody stoolsSwollen or enlarged spleen (splenomegaly)Abdominal pain or discomfortFeeling very tired or weak (due to low blood counts)Swollen abdomen from fluid buildup (ascites)Frequent infections due to low white blood cell countEasy bruising or bleeding due to low platelet countYellowing of the skin or eyes (jaundice) in some casesPoor growth or delayed development in childrenFeeling full quickly after eating

Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events
Feb 2024Non-invasive Tools for PSVD Diagnosis

Nanfang Hospital, Southern Medical University

TrialRECRUITING
Nov 2023Prediction of Portal Hypertension in Patients With CVID (CVID-pHT)

University Hospital Freiburg

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Non-malignant and non-cirrhotic portal vein thrombosis.

2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

2 recruitingView all trials with filters →
Other2 trials
Prediction of Portal Hypertension in Patients With CVID (CVID-pHT)
Actively Recruiting
PI: Dominik Bettinger, MD (University Hospital Freiburg) · Sites: Freiburg im Breisgau · Age: 1899 yrs
Non-invasive Tools for PSVD Diagnosis
Actively Recruiting
PI: Xiaofeng Zhang (Nanfang Hospital, Southern Medical University) · Sites: Guangzhou, Guangdong · Age: 1880 yrs

No specialists are currently listed for Non-malignant and non-cirrhotic portal vein thrombosis.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Non-malignant and non-cirrhotic portal vein thrombosis.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Do I need to be tested for an inherited blood clotting disorder, and should my family members be tested too?,How often do I need endoscopy to check for varices, and what treatment will you use if varices are found?,Should I be on blood thinners, and if so, which type and for how long?,Am I a candidate for a surgical procedure like the Meso-Rex bypass or TIPS?,What activities or medications should I avoid because of my condition?,What are the warning signs of a bleeding emergency, and what should I do if one happens?,How will you monitor my liver health over time to make sure it stays healthy?

Common questions about Non-malignant and non-cirrhotic portal vein thrombosis

What is Non-malignant and non-cirrhotic portal vein thrombosis?

Non-malignant and non-cirrhotic portal vein thrombosis (PVT) is a condition where a blood clot forms in the portal vein — the large blood vessel that carries blood from the intestines, stomach, and spleen to the liver. Importantly, this form of PVT occurs in people who do NOT have liver cancer or liver cirrhosis (scarring), which sets it apart from more common causes of portal vein clotting. The condition is also sometimes called extrahepatic portal vein obstruction (EHPVO), especially when it develops in children. When the portal vein is blocked, blood cannot flow normally to the liver. The

How is Non-malignant and non-cirrhotic portal vein thrombosis inherited?

Non-malignant and non-cirrhotic portal vein thrombosis follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Are there clinical trials for Non-malignant and non-cirrhotic portal vein thrombosis?

Yes — 2 recruiting clinical trials are currently listed for Non-malignant and non-cirrhotic portal vein thrombosis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.