Living with Tangier disease
An inherited condition with very low HDL ("good") cholesterol, orange tonsils, and nerve problems.
Understanding Tangier disease
HDL carries cholesterol and fats from the body's tissues to the liver. With very low HDL, people have a moderately higher risk of heart and blood vessel disease. Other features include mildly raised blood fat, nerve problems (neuropathy), and enlarged orange tonsils. Some have an enlarged liver or spleen, cloudy corneas, or type 2 diabetes. It can appear at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged orange-colored tonsils
- Nerve problems (neuropathy) and weakness
- Fatty buildup in the arteries (atherosclerosis)
- Enlarged liver and spleen
- Swollen lymph nodes
- Belly pain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in ABCA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Foundation for Peripheral Neuropathy and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ABCA1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: analphalipoproteinemia; atp-binding cassette transporter a1 deficiency; cholesterol thesaurismosis; defective adenosine triphosphate-binding cassette transporter a1; familial alpha-lipoprotein deficiency; familial high density lipoprotein deficiency
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Tangier disease.
Explore research for Tangier disease
Explore actively recruiting Tangier disease studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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