Overview
Tangier disease is a very rare inherited condition that affects how the body handles cholesterol and fats. It is also sometimes called familial HDL deficiency or analphalipoproteinemia. In people with Tangier disease, the body cannot properly remove cholesterol from cells and send it back to the liver. This causes cholesterol to build up in tissues throughout the body, especially in the tonsils, liver, spleen, lymph nodes, and nerves. The most well-known sign of Tangier disease is unusually large, orange or yellow-colored tonsils. People with this condition also have very low levels of HDL cholesterol — often called 'good cholesterol' — in their blood. Over time, cholesterol buildup can damage the nerves, causing weakness, numbness, or tingling in the hands and feet. The liver and spleen may become enlarged, and there is an increased risk of heart and blood vessel disease. Right now, there is no cure for Tangier disease. Treatment focuses on managing symptoms, protecting heart health through a heart-healthy diet and lifestyle, and monitoring for complications. Some people have mild symptoms throughout their lives, while others develop more serious nerve or heart problems. Regular follow-up with specialists is important to catch and manage complications early.
Key symptoms:
Enlarged, orange or yellow-colored tonsilsVery low HDL ('good') cholesterol levels in the bloodEnlarged liver (hepatomegaly)Enlarged spleen (splenomegaly)Numbness or tingling in the hands and feetMuscle weaknessClouding of the cornea (the clear front part of the eye)Swollen lymph nodesIncreased risk of heart disease and hardening of the arteriesMild anemia (low red blood cell count)Drooping eyelids or facial weakness in some casesDifficulty with coordination or balance in some people
Clinical phenotype terms (22)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Tangier disease.
View clinical trials →Clinical Trials
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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 Tangier disease.
Community
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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.What tests do I need to check for nerve damage, heart disease, and other complications?,How often should I have follow-up appointments and blood tests?,Are there any dietary changes or medications that can help reduce my risk of heart disease?,Should my family members be tested for Tangier disease or the ABCA1 gene change?,Are there any clinical trials or research studies I might be eligible for?,What symptoms should prompt me to seek emergency care right away?,Can you refer me to a specialist who has experience treating Tangier disease?
Common questions about Tangier disease
What is Tangier disease?
Tangier disease is a very rare inherited condition that affects how the body handles cholesterol and fats. It is also sometimes called familial HDL deficiency or analphalipoproteinemia. In people with Tangier disease, the body cannot properly remove cholesterol from cells and send it back to the liver. This causes cholesterol to build up in tissues throughout the body, especially in the tonsils, liver, spleen, lymph nodes, and nerves. The most well-known sign of Tangier disease is unusually large, orange or yellow-colored tonsils. People with this condition also have very low levels of HDL ch
How is Tangier disease inherited?
Tangier disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Tangier disease?
2 specialists and care centers treating Tangier disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.