Editing Abetalipoproteinemia (section)

==Diagnosis==
The initial workup of Abetalipoproteinemia typically consists of stool sampling, a peripheral blood smear, and a fasting lipid panel, though these tests are not confirmatory.<ref name="pmid15765527">{{Cite journal |vauthors=Demircioğlu F, Oren H, Yilmaz S, Arslan N, Gürcü O, Irken G |date=August 2005 |title=Abetalipoproteinemia: importance of the peripheral blood smear |journal=Pediatric Blood & Cancer |volume=45 |issue=2 |pages=237 |doi=10.1002/pbc.20360 |pmid=15765527 |s2cid=28481550}}</ref> As the disease is rare, though a genetics test is necessary for diagnosis, it is generally not done initially. However, prenatal testing may be available for pregnancies identified to be at an increased risk (if both parents are unaffected carrier or one parent is affected and the other in a carrier).{<ref>{{Cite book |title=StatPearls |vauthors=Junaid SZ, Patel K |date=2024 |publisher=StatPearls Publishing |location=Treasure Island (FL) |chapter=Abetalipoproteinamia |pmid=30020727 |access-date=29 April 2024 |chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK513355/ |via=National Library of Medicine}}</ref>}

[[Acanthocytes]] are seen on blood smear.<ref name="pmid21534356">{{Cite journal |vauthors=Ozsoylu S |date=Jan–Feb 2011 |title=Red cells in abetalipoproteinemia |journal=The Turkish Journal of Pediatrics |volume=53 |issue=1 |pages=119 |pmid=21534356}}</ref> Since there is no or little assimilation of [[chylomicron]]s, their levels in [[Blood plasma|plasma]] remains low.{{Citation needed|date=May 2021}}

The inability to absorb fat in the ileum will result in [[steatorrhea]], or fat in the stool.  As a result, this can be clinically diagnosed when foul-smelling stool is encountered.  Low levels of plasma [[chylomicron]] are also characteristic.{{Citation needed|date=May 2021}}

There is an absence of [[apolipoprotein B]]. On intestinal [[biopsy]], [[vacuole]]s containing lipids are seen in enterocytes. This disorder may also result in fat accumulation in the liver (hepatic steatosis). Because the epithelial cells of the bowel lack the ability to place fats into chylomicrons, lipids accumulate at the surface of the cell, crowding the functions that are necessary for proper absorption.{{Citation needed|date=May 2021}}

Multiple related disorders present with similar symptoms as abetalipoproteinemia that can provide a useful diagnosis through comparisons. Some of those disorders are:{{Citation needed|date=May 2021}}