Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome (CHAPLES) is a rare, inherited disorder characterized by recurrent episodes of thrombosis (blood clots) in the small blood vessels of the body, protein-losing enteropathy (a condition in which proteins are lost from the intestines), and an overactive immune system. It is caused by mutations in the complement component C3 gene. Symptoms may include recurrent episodes of abdominal pain, vomiting, diarrhea, and weight loss. Treatment typically involves anticoagulants, immunosuppressants, and dietary modifications.

The symptoms of Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome can vary depending on the individual, but may include:

-Fatigue

-Weight loss

-Abdominal pain

-Diarrhea

-Nausea and vomiting

-Blood in the stool

-Joint pain

-Skin rashes

-Fever

-Anemia

-Easy bruising

-Swollen lymph nodes

-Enlarged liver and spleen

-High levels of certain proteins in the blood (e.g. C3, C4, and C5)

-High levels of certain enzymes in the blood (e.g. alkaline phosphatase and gamma-glutamyl transferase)

1. Genetic predisposition
2. Autoimmune disorders
3. Infections
4. Certain medications
5. Exposure to certain toxins
6. Certain medical conditions, such as kidney disease, liver disease, and cancer
7. Certain dietary deficiencies, such as vitamin B12 deficiency
8. Certain blood disorders, such as polycythemia vera and myeloproliferative disorders

1. Diet modification: A low-fat, low-salt diet may be recommended to reduce the risk of further complications.

2. Medications: Anticoagulants such as warfarin or heparin may be prescribed to reduce the risk of blood clots. Corticosteroids may be prescribed to reduce inflammation.

3. Surgery: In some cases, surgery may be necessary to repair damaged blood vessels or to remove a clot.

4. Plasma exchange: This procedure involves removing the patient’s plasma and replacing it with donor plasma. This can help reduce the levels of abnormal proteins in the blood.

5. Immunosuppressants: These medications can help reduce the activity of the immune system, which can help reduce inflammation.

1. Genetic predisposition: Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome is an inherited disorder, so individuals with a family history of the condition are at an increased risk.

2. Age: The condition is more common in children and young adults.

3. Immunodeficiency: Individuals with weakened immune systems are more likely to develop the condition.

4. Certain medications: Certain medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs) and antibiotics, can increase the risk of developing the condition.

5. Infections: Certain infections, such as HIV, can increase the risk of developing the condition.

At this time, there is no known cure for Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome. Treatment is focused on managing the symptoms and complications of the condition. Medications such as anticoagulants, anti-inflammatory drugs, and immunosuppressants may be used to reduce inflammation and prevent further damage to the blood vessels. In some cases, surgery may be necessary to repair damaged vessels. Additionally, dietary changes may be recommended to reduce the amount of protein lost through the intestines.