Overview
Hypoalphalipoproteinemia is a condition where the blood has very low levels of HDL cholesterol — often called 'good cholesterol.' HDL stands for high-density lipoprotein, and its main job is to carry cholesterol away from the arteries and back to the liver, where it can be removed from the body. When HDL levels are too low, this protective process does not work as well, and cholesterol can build up in the walls of blood vessels. This raises the risk of heart disease and stroke at a younger age than usual. This condition can be caused by changes (mutations) in specific genes, but it can also be influenced by lifestyle factors, other medical conditions, or certain medications. Some people inherit it from one or both parents, while others develop it without a clear family history. Common synonyms include 'low HDL cholesterol syndrome' and, in its most severe inherited form, it overlaps with conditions like Tangier disease or familial HDL deficiency. Many people with hypoalphalipoproteinemia have no obvious symptoms for years, which makes it easy to miss. Over time, the main concerns are early heart disease, fatty deposits in the skin or tendons (called xanthomas), and in some genetic forms, nerve or organ problems. Treatment focuses on lifestyle changes and managing cardiovascular risk, though specific medications may also be used depending on the underlying cause.
Key symptoms:
Very low levels of HDL ('good') cholesterol found on a blood testEarly heart disease or heart attack at a younger age than expectedFatty deposits under the skin or in tendons (xanthomas)Cloudy spots on the cornea of the eye (corneal opacities)Enlarged tonsils that appear orange or yellowish (in Tangier disease)Numbness or tingling in the hands and feet (peripheral neuropathy)Enlarged spleen or liverStroke or mini-stroke at a younger ageChest pain or shortness of breath related to heart diseaseFatigue related to cardiovascular complications
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Hypoalphalipoproteinemia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hypoalphalipoproteinemia 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 Hypoalphalipoproteinemia.
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Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What is causing my low HDL — is it genetic, lifestyle-related, or both?,Should I have genetic testing, and should my family members be tested too?,What is my personal risk of having a heart attack or stroke, and how can we reduce it?,Are there any medications that would help raise my HDL or protect my heart?,What diet and exercise changes will make the biggest difference for me?,Are there any clinical trials or new treatments I should know about?,How often should I have my cholesterol and heart health checked?
Common questions about Hypoalphalipoproteinemia
What is Hypoalphalipoproteinemia?
Hypoalphalipoproteinemia is a condition where the blood has very low levels of HDL cholesterol — often called 'good cholesterol.' HDL stands for high-density lipoprotein, and its main job is to carry cholesterol away from the arteries and back to the liver, where it can be removed from the body. When HDL levels are too low, this protective process does not work as well, and cholesterol can build up in the walls of blood vessels. This raises the risk of heart disease and stroke at a younger age than usual. This condition can be caused by changes (mutations) in specific genes, but it can also b
Which specialists treat Hypoalphalipoproteinemia?
25 specialists and care centers treating Hypoalphalipoproteinemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.