Chylomicron retention disease

In chylomicron retention disease (Anderson s disease) the secretory defect is restricted to intestinal apoB-containing lipoproteins (i.e., chylomicrons). This very rare recessively inherited disorder results from defects in a GTPase, Sarlb, which plays a critical role in the intracellular assembly and trafficking of chylomicrons. The affected patients present with fat malabsorption resulting in steatorrhea and deficiency of fat-soluble vitamins [46, 52, 54]. 

Three disorders of lipoprotein metabolism share these characteristics familial hypobetal-ipoproteinemia, chylomicron retention disease, and ABL (Table 27-2). The presence or absence of specific plasma apoB lipoproteins, as well as their mode of inheritance, can be useful when attempting to differentiate between these disorders. Symptoms associated with familial hypo-betalipoproteinemia are usually milder than for the other two and are inherited as dominant traits, that is, symptoms are observed in at least one parent of an affected offspring. Chylomicron retention disease is an autosomal recessive disorder with a severe phenotype commonly presenting soon after birth. Plasma lipoprotein analysis from affected individuals shows a specific absence of chylomicrons (apoB48) but normal amounts of VLDL and LDL (apoB 100). In our patient, evidence of recessive inheritance and absence of all apoB-containing lipoproteins implicates ABL as the most likely diagnosis. 

CMRD, chylomicron retention disease CMRD-MSS,CMRD with Marinesco Sjogren syndrome. 

Why do abetalipoproteinemia (ABL), chylomicron retention disease, and homozygous hypobetalipoproteinemia present so similarly How would one differentiate between them ... 

Acanthocytosis is associated with ABL, but not with chylomicron retention disease. Explain. 

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See also in sourсe #XX -- [ ]

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