Overview
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, often called CHAPLE syndrome, is a very rare inherited disease that affects the immune system, blood vessels, and digestive tract all at once. The name describes the three main problems it causes: the immune system's complement pathway becomes overactive and attacks the body's own tissues, small blood vessels develop dangerous clots (a process called angiopathic thrombosis), and the intestines leak proteins into the gut instead of keeping them in the bloodstream (protein-losing enteropathy). The complement system is normally a helpful part of the immune system that fights infections. In CHAPLE syndrome, a missing or broken protein called CD55 means the complement system cannot be properly controlled. Without this brake, the immune system keeps firing and damages blood vessels and the lining of the intestines. This leads to swelling (edema), low protein levels in the blood, poor absorption of nutrients, and dangerous blood clots that can form in the intestines and other organs. Key symptoms include severe swelling, diarrhea, abdominal pain, weight loss, and life-threatening clots. The disease usually begins in childhood. Treatment has improved greatly with eculizumab, a drug that blocks the overactive complement system. With proper treatment, many patients see significant improvement in their symptoms and quality of life.
Also known as:
Key symptoms:
Severe swelling of the legs, abdomen, or face (edema)Chronic diarrheaAbdominal pain and crampingUnintended weight loss and poor growthLow protein levels in the blood (hypoproteinemia)Blood clots in the intestines or other organs (thrombosis)Fatigue and general weaknessNausea and vomitingMalnutrition and vitamin deficienciesRecurrent infections due to immune system problemsFluid buildup in the abdomen (ascites)Anemia (low red blood cell count)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventRegeneron Pharmaceuticals — PHASE4
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableVeopoz
Treatment of patients 1 year of age and older with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE disease). First approved treatment…
Treatment of patients 1 year of age and older with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE disease). First approved treatment for CHAPLE disease.
Specialists
View all specialists →No specialists are currently listed for Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesPhysician EZ Use Joint Tunnel and Trigger Kit II
Primary
Carpal Tunnel Syndrome
Travel Grants
No travel grants are currently matched to Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome.
Community
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Start the conversation →Latest news about Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Disease timeline:
New recruiting trial: A Study to Test the Safety of Pozelimab in Pediatric Participants 1 to 5 Years of Age With a Rare Disease Called CHAPLE (Complement Hyperactivation, Angiopathic Thrombosis, Protein-losing Enteropathy) Disease
A new clinical trial is recruiting patients for Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Is genetic testing available for my whole family to see if others are carriers or affected?,Am I or my child a good candidate for eculizumab, and how do we access it?,What vaccinations are needed before starting complement-blocking treatment?,How often will monitoring blood tests and infusions be needed?,What are the warning signs of a blood clot and when should we go to the emergency room?,Are there any clinical trials or research studies we could join?,What dietary changes or nutritional support are recommended?
Common questions about Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
What is Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome?
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, often called CHAPLE syndrome, is a very rare inherited disease that affects the immune system, blood vessels, and digestive tract all at once. The name describes the three main problems it causes: the immune system's complement pathway becomes overactive and attacks the body's own tissues, small blood vessels develop dangerous clots (a process called angiopathic thrombosis), and the intestines leak proteins into the gut instead of keeping them in the bloodstream (protein-losing enteropathy). The complement
How is Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome inherited?
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome typically begin?
Typical onset of Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome?
Yes — 1 recruiting clinical trial is currently listed for Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
What treatment and support options exist for Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome?
1 patient support program are currently tracked on UniteRare for Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.