What is NON RARE IN EUROPE: Familial hypobetalipoproteinemia?
Familial hypobetalipoproteinemia (FHBL) is an inherited condition where the body produces very low levels of certain fats and fat-carrying proteins in the blood — specifically a protein called apolipoprotein B (apoB) and a type of cholesterol called LDL ('bad cholesterol'). While low LDL might sound like a good thing, having levels that are too low can actually cause serious health problems over time. This condition is also sometimes called familial low LDL syndrome or apoB deficiency. The disease mainly affects the liver and the digestive system. Because the body cannot properly package and transport fats, fat-soluble vitamins like vitamin E, vitamin A, vitamin D, and vitamin K may not be absorbed well. This can lead to nerve damage, muscle weakness, and eye problems if left untreated. The liver may also accumulate fat, which can cause liver disease over time. Many people with a milder form of FHBL have no symptoms at all and are only diagnosed through routine blood tests. Others, especially those with more severe forms, may develop significant neurological and liver problems. Treatment focuses on high-dose vitamin supplements — especially vitamin E — to prevent nerve and eye damage. With early diagnosis and proper supplementation, many people can live relatively normal lives.
Key symptoms:
Very low LDL ('bad') cholesterol levels on blood testsFat buildup in the liver (fatty liver disease)Difficulty absorbing fat-soluble vitamins (A, D, E, K)Nerve damage causing numbness, tingling, or balance problemsMuscle weaknessVision problems, including night blindness or retinal damageFatigue and low energyDiarrhea or fatty, greasy stoolsAbdominal discomfort or bloatingBleeding problems due to low vitamin K (in severe cases)Bone thinning (osteoporosis) due to low vitamin D
- Inheritance
- Autosomal dominant
- Passed on from just one parent; each child has about a 50% chance of inheriting it
- Age of Onset
- Variable
- Can begin at different ages, from infancy through adulthood
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for NON RARE IN EUROPE: Familial hypobetalipoproteinemia.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for NON RARE IN EUROPE: Familial hypobetalipoproteinemia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for NON RARE IN EUROPE: Familial hypobetalipoproteinemia.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to NON RARE IN EUROPE: Familial hypobetalipoproteinemia.
Community
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Start the conversation →Latest news about NON RARE IN EUROPE: Familial hypobetalipoproteinemia
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for NON RARE IN EUROPE: Familial hypobetalipoproteinemia.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 are my specific gene mutation results, and what do they mean for my health?,Which vitamins do I need to take, and at what doses?,How often should I have my liver checked, and what signs of liver damage should I watch for?,Should my children, parents, or siblings be tested for this condition?,Do I need to follow a special diet, and should I see a dietitian?,What neurological or eye symptoms should prompt me to seek urgent care?,Are there any clinical trials or new treatments I should know about?
Common questions about NON RARE IN EUROPE: Familial hypobetalipoproteinemia
What is NON RARE IN EUROPE: Familial hypobetalipoproteinemia?
Familial hypobetalipoproteinemia (FHBL) is an inherited condition where the body produces very low levels of certain fats and fat-carrying proteins in the blood — specifically a protein called apolipoprotein B (apoB) and a type of cholesterol called LDL ('bad cholesterol'). While low LDL might sound like a good thing, having levels that are too low can actually cause serious health problems over time. This condition is also sometimes called familial low LDL syndrome or apoB deficiency. The disease mainly affects the liver and the digestive system. Because the body cannot properly package and
How is NON RARE IN EUROPE: Familial hypobetalipoproteinemia inherited?
NON RARE IN EUROPE: Familial hypobetalipoproteinemia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Frequently asked questions about NON RARE IN EUROPE: Familial hypobetalipoproteinemia
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is NON RARE IN EUROPE: Familial hypobetalipoproteinemia?
NON RARE IN EUROPE: Familial hypobetalipoproteinemia is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:426). It is typically inherited as autosomal dominant. Age of onset is generally variable. For verified primary sources, see the UniteRare NON RARE IN EUROPE: Familial hypobetalipoproteinemia page.
How is NON RARE IN EUROPE: Familial hypobetalipoproteinemia inherited?
NON RARE IN EUROPE: Familial hypobetalipoproteinemia follows autosomal dominant inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for NON RARE IN EUROPE: Familial hypobetalipoproteinemia?
Approved treatments for NON RARE IN EUROPE: Familial hypobetalipoproteinemia are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for NON RARE IN EUROPE: Familial hypobetalipoproteinemia?
Active clinical trials for NON RARE IN EUROPE: Familial hypobetalipoproteinemia are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for NON RARE IN EUROPE: Familial hypobetalipoproteinemia?
Verified NON RARE IN EUROPE: Familial hypobetalipoproteinemia specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full NON RARE IN EUROPE: Familial hypobetalipoproteinemia page for complete clinical details, sources, and verified-specialist listings.
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