Overview
Reynolds syndrome is a very rare condition that combines two serious autoimmune diseases: primary biliary cholangitis (PBC) and systemic sclerosis (also called scleroderma). In autoimmune diseases, the body's immune system mistakenly attacks its own healthy tissues. In Reynolds syndrome, the immune system damages both the liver's bile ducts and the connective tissue throughout the body. This combination was first described by Dr. T.B. Reynolds and colleagues in 1971, which is how the syndrome got its name. The liver involvement (PBC) causes bile to build up in the liver over time, leading to inflammation and scarring. The scleroderma component causes the skin to harden and thicken, and can also affect internal organs like the lungs, kidneys, heart, and digestive tract. Most people diagnosed with Reynolds syndrome are middle-aged women, though it can affect anyone. Symptoms can include fatigue, itchy skin, yellowing of the skin or eyes, dry eyes and mouth, tight or hardened skin, and difficulty swallowing. Treatment focuses on managing each condition separately. Ursodeoxycholic acid is commonly used for the liver disease, while various medications help control the scleroderma symptoms. There is currently no cure, but treatment can slow the progression and improve quality of life significantly.
Also known as:
Key symptoms:
Extreme tiredness and fatigueItchy skin, sometimes severeYellowing of the skin or whites of the eyes (jaundice)Hardening and tightening of the skin, especially on the hands and faceDry eyes and dry mouth (Sicca symptoms)Difficulty swallowingRaynaud's phenomenon — fingers turning white, blue, or red in the coldJoint pain and stiffnessAbdominal discomfort or pain in the upper right sideShortness of breath due to lung involvementSwelling in the legs or anklesHeartburn or acid refluxSmall red spots on the skin (telangiectasias)Dark urine or pale stools from liver problemsHigh blood pressure in the lungs (pulmonary hypertension) in some cases
Clinical phenotype terms (24)— hover any for plain English
Multifactorial
Caused by a mix of several genes and environmental factors
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Reynolds syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Reynolds syndrome at this time.
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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
Travel Grants
No travel grants are currently matched to Reynolds syndrome.
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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.Which of my two conditions — the liver disease or the scleroderma — is more advanced right now, and what does that mean for my treatment priorities?,Should I start ursodeoxycholic acid, and how will we know if it is working for my liver?,What tests do I need regularly to monitor my liver, lungs, kidneys, and heart?,Are there any clinical trials for Reynolds syndrome or for primary biliary cholangitis combined with scleroderma that I might be eligible for?,What warning signs should make me go to the emergency room immediately?,How should I adjust my diet and daily routine to protect my liver and manage my digestive symptoms?,Should other members of my family be tested or monitored for autoimmune conditions?
Common questions about Reynolds syndrome
What is Reynolds syndrome?
Reynolds syndrome is a very rare condition that combines two serious autoimmune diseases: primary biliary cholangitis (PBC) and systemic sclerosis (also called scleroderma). In autoimmune diseases, the body's immune system mistakenly attacks its own healthy tissues. In Reynolds syndrome, the immune system damages both the liver's bile ducts and the connective tissue throughout the body. This combination was first described by Dr. T.B. Reynolds and colleagues in 1971, which is how the syndrome got its name. The liver involvement (PBC) causes bile to build up in the liver over time, leading to
How is Reynolds syndrome inherited?
Reynolds syndrome follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Reynolds syndrome typically begin?
Typical onset of Reynolds syndrome is adult. Age of onset can vary across affected individuals.
Which specialists treat Reynolds syndrome?
3 specialists and care centers treating Reynolds syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.