About Cholestasis-lymphedema syndrome

What is Cholestasis-lymphedema syndrome?

Cholestasis-lymphedema syndrome is a rare genetic disorder that affects the liver and lymphatic system. It is characterized by a buildup of bile acids in the liver, which can lead to liver damage, and a blockage of the lymphatic system, which can cause swelling in the arms and legs (lymphedema). Symptoms of the disorder can include jaundice, itching, fatigue, abdominal pain, and swelling in the extremities. Treatment typically involves medications to reduce bile acid levels and to reduce swelling.



What are the symptoms of Cholestasis-lymphedema syndrome?

The symptoms of Cholestasis-lymphedema syndrome vary from person to person, but may include:

- Swelling of the legs, feet, and/or hands

- Itching of the skin

- Darkening of the skin

- Abdominal pain

- Nausea and vomiting

- Fatigue

- Weight loss

- Jaundice

- Abnormal liver function tests

- Abnormal cholesterol levels

- Abnormal blood clotting tests

- Abnormal blood sugar levels

- Abnormal blood pressure levels

- Abnormal kidney function tests



What are the causes of Cholestasis-lymphedema syndrome?

Cholestasis-lymphedema syndrome is a rare genetic disorder caused by mutations in the VPS33B gene. This gene is responsible for the production of a protein that helps regulate the movement of substances in and out of cells. Mutations in this gene can lead to a buildup of bile acids in the liver, which can cause a variety of symptoms, including jaundice, itching, and swelling of the legs and feet (lymphedema).



What are the treatments for Cholestasis-lymphedema syndrome?

The treatment for Cholestasis-lymphedema syndrome depends on the severity of the condition. Treatment may include:

1. Medications: Medications such as ursodeoxycholic acid (UDCA) and rifampin may be prescribed to reduce the amount of bile acids in the body and improve liver function.

2. Surgery: Surgery may be necessary to remove the blockage in the bile ducts.

3. Lifestyle changes: Making changes to your diet and lifestyle can help reduce the symptoms of cholestasis-lymphedema syndrome. This may include avoiding alcohol, eating a healthy diet, and exercising regularly.

4. Compression garments: Compression garments may be used to reduce swelling in the affected area.

5. Physical therapy: Physical therapy can help improve mobility and



What are the risk factors for Cholestasis-lymphedema syndrome?

1. Genetic predisposition: Cholestasis-lymphedema syndrome is an inherited disorder caused by mutations in the FLCN gene.

2. Age: The syndrome is more common in adults, although it can occur in children.

3. Gender: Cholestasis-lymphedema syndrome is more common in females than males.

4. Obesity: Being overweight or obese can increase the risk of developing the syndrome.

5. Certain medications: Certain medications, such as statins, can increase the risk of developing the syndrome.

6. Pregnancy: Pregnant women are at an increased risk of developing the syndrome.



Is there a cure/medications for Cholestasis-lymphedema syndrome?

There is no known cure for Cholestasis-lymphedema syndrome. Treatment focuses on managing the symptoms, which may include medications to reduce itching, antibiotics to treat infections, and compression garments to reduce swelling. Surgery may be recommended in some cases to remove excess fluid from the affected area.