Abetalipoproteinemia, also known as Bassen-Kornzweig Syndrome, affects a patient’s ability to absorb fat from their diet due to a defect in the MTTP gene. This may result in a number of symptoms, including:
- Vomiting or diarrhea
- Foul smelling or pale colored stool
- Poor growth and development -may be referred to as ” failure to thrive”
- Trouble digesting fatty foods
Other possible signs and symptoms
As patients get older other symptoms may develop due in large part to the vitamin deficiencies related to Abetalipoproteinemia.
- Poor balance (Ataxia)
- Vision loss (similar to Retinitis Pigmentosa)
- Fatty liver
- Other potential neurological or vision problems
Signs and symptoms doctors can test for
In a clinical setting there are some signals that a child with Abetalipoproteinemia would exhibit through observation and some simple clinical tests and markers.
- Acanthocytosis (irregularly shaped red blood cells)
- Extremely low cholesterol level
- Extremely low or undetectable level of Vitamin E
- Extremely low levels of Vitamins A, K, and D
- Low levels of Triglycerides
Getting a Diagnosis
A diagnosis of Abetalipoproteinemia typically begins with a clinical examination and tests such as a lipid profile, vitamin level testing, and examining red blood cells under a microscope, looking for an irregular shape (Acanthocytosis). Further tests may include a genetic profile specifically examining the MTTP gene, an intestinal biopsy, an electromyography (EMG), and an ophthalmological eye exam. A detailed family history could also be useful in arriving at a diagnosis.
Common Misdiagnoses
Abetalipoproteinemia could be misdiagnosed as a number of other conditions including vitamin deficiencies, Celiac Disease, Freidreich’s Ataxia, Retinitis Pigmentosa, Chronic Pancreatitis, or other lipid metabolic disorders.
Possible Treatment Options
Unlike many rare diseases, Abetalipoproteinemia is treatable. Possible treatments and therapies may include, but are not limited to:
- Adherence to a very low fat diet
- Administration of very high doses of Vitamins A, E, K, and possibly D
- Regular Ophthalmological Exams
- Electrocardiograms (ECG)
- Nerve conduction studies
Letters Regarding Vitamin Therapies
Below are letters written by our medical advisory board that can be given to doctors or insurance companies illustrating the need for vitamin therapies in high doses to treat these illnesses.
Published Articles Related To ABL
Below are some articles published in medical journals and other media relating to ABL
- New Classification and Management of Abetalipoproteinemia and Related Disorders – Published by the ABL+ Foundation
- Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging – Ophthalmic Genetics article co-authored by Dr. Hussain and Dr. Bredefeld from the ABL+ Foundation
- Clinical utility gene card for: Abetalipoproteinaemia–Update 2014 – PubMed article on the genetics of ABL
- The role of the microsomal triglygeride transfer protein in abetalipoproteinemia – NIH article discussing the MTTP gene as it relates to ABL
- Vitamin E and A deficiency is a feature of abetalipoproteinemia (ABL) – Science Direct article
- Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease – Journal of Lipid Research article
- Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management – NIH article
- Multiple functions of microsomal triglyceride transfer protein – PubMed article relating to the function of MTTP
ABL On The Web
Below are websites with more information about Abetalipoproteinemia
- National Organization Of Rare Diseases (NORD)
- National Institutes Of Health (PubMed)
- MedicinePlus
- NIH GeneReviews
- Orphanet Journal Of Rare Diseases
- BMJ Best Practice
- ScienceDirect
Read Patient Stories
Here are some stories about Abetalipoproteinemia patients and their caregivers.
