Chylous ascites

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ORPHA:1160OMIM:208300I89.8
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Overview

Chylous ascites is a rare condition characterized by the accumulation of chyle (a milky, lipid-rich lymphatic fluid) within the peritoneal cavity. It results from disruption or obstruction of the lymphatic system, leading to leakage of chyle from lymphatic vessels into the abdominal cavity. The condition can occur as a congenital or acquired disorder. Congenital chylous ascites, also known as congenital chyloperitoneum, typically presents in neonates or infants and may be associated with lymphatic malformations, intestinal lymphangiectasia, or primary lymphatic dysplasia. Acquired forms can result from abdominal surgery, trauma, malignancy (particularly lymphomas), cirrhosis, infections such as tuberculosis, or radiation therapy. The primary clinical features include progressive abdominal distension, abdominal discomfort or pain, and weight gain due to fluid accumulation. Patients may also experience malnutrition, failure to thrive (in children), dyspnea from increased abdominal pressure, and peripheral edema. Diagnosis is confirmed by paracentesis revealing a milky peritoneal fluid with elevated triglyceride levels (typically greater than 200 mg/dL) and a predominance of lymphocytes. Treatment depends on the underlying cause and severity. Conservative management includes dietary modification with a high-protein, low-fat diet supplemented with medium-chain triglycerides (MCTs), which are absorbed directly into the portal venous system rather than through lymphatics. Total parenteral nutrition may be required in severe cases. Octreotide, a somatostatin analogue, has been used to reduce lymphatic flow. Repeated therapeutic paracentesis may be necessary to relieve symptoms. In refractory cases, surgical intervention such as peritoneovenous shunting, ligation of leaking lymphatic vessels, or lymphovenous anastomosis may be considered. The prognosis varies widely depending on the etiology, with congenital forms sometimes resolving spontaneously in infants.

Clinical phenotype terms— hover any for plain English:

Abnormal intestine morphologyHP:0002242
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Mar 2023A Prospective Natural History Study of Lymphatic Anomalies

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Chylous ascites.

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No actively recruiting trials found for Chylous ascites at this time.

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No specialists are currently listed for Chylous ascites.

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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 Chylous ascites.

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Community

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Latest news about Chylous ascites

Disease timeline:

New recruiting trial: A Prospective Natural History Study of Lymphatic Anomalies

A new clinical trial is recruiting patients for Chylous ascites

Caregiver Resources

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Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Chylous ascites

What is Chylous ascites?

Chylous ascites is a rare condition characterized by the accumulation of chyle (a milky, lipid-rich lymphatic fluid) within the peritoneal cavity. It results from disruption or obstruction of the lymphatic system, leading to leakage of chyle from lymphatic vessels into the abdominal cavity. The condition can occur as a congenital or acquired disorder. Congenital chylous ascites, also known as congenital chyloperitoneum, typically presents in neonates or infants and may be associated with lymphatic malformations, intestinal lymphangiectasia, or primary lymphatic dysplasia. Acquired forms can re