Living with Abetalipoproteinaemia
An inherited condition that makes it hard to absorb fats and some vitamins, affecting digestion, eyes, nerves, and blood.
Understanding Abetalipoproteinaemia
Many signs result from a severe shortage of fat-soluble vitamins A, E, and K. It mainly affects the digestive system, eyes, nervous system, and blood. In infancy, babies may not gain weight, and have diarrhea and fatty, foul-smelling stools. With age, nerve problems can bring poor balance and coordination, and loss of vision from retinitis pigmentosa. GARD lists onset as infant and child.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Not gaining weight as expected
- Chronic diarrhea and fatty stools
- Poor balance and coordination
- Night blindness and vision loss
- Anemia
- Loss of reflexes
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 blood and bone marrow specialists, brain and nervous system specialists, digestive system specialists and eye disease specialists.
- 3Consider genetic testing
Changes in MTTP 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
Foundation of the National Lipid Association, National Ataxia Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: Foundation of the National Lipid Association, National Ataxia Foundation, 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 Foundation of the National Lipid Association 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 MTTP gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: abetalipoproteinemia; abetalipoproteinemia neuropathy; abl; abl - abetalipoproteinemia; apolipoprotein b deficiency; bassen-kornzweig disease
Patient organizations
- Foundation of the National Lipid AssociationAbetalipoproteinaemia · United States
- National Ataxia FoundationAtaxia · United States
- 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 Abetalipoproteinaemia.
Explore research for Abetalipoproteinaemia
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- Recruiting studies from ClinicalTrials.gov
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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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