Anderson ’s disease or chylomicron holding disease is a very rare genic lipid malabsorption circumstance . Lipid malabsorption bring up to the blood plasma lipid ( HDL , LDL , and triglycerides ) and fatty - soluble vitamin particularly A and E. It is an autosomal recessively inherited disease with less than 50 cases having been reported in the world . The specific molecular defect was name in 2003 and lie of mutant in the SAR1B gene which encodes for an intracellular Sar1b protein . loser to thrive , growth failure , vitamin E insufficiency and liverwort , neurologic and ophthalmologic complications are some of the characteristic features of this Anderson ’s disease .
What Are The Symptoms of Anderson’s Disease?
Failure to thrive / develop is the first physical house suggestive that a fry is receiving inadequate alimentation for optimal outgrowth and development . The signs and symptoms of Anderson ’s disease or chylomicron retentiveness disease seem in the first few month of animation i.e. disease manifests in babyhood or other puerility . Most of the symptom are nonspecific symptom . inveterate diarrhea , restrained outgrowth lag , digestive problem , and underweight are major symptoms of this disorder . This difficulty in fat immersion leads to excess fat in the faeces . This experimental condition is look up to as steatorrhea .
Neurological signs , including proprioceptive abnormalities , are flexia , earth tremor , ataxiaand sensory myopathy , may occur stern in chylomicron retentiveness disease . neurologic signs , although varying , most oft cause a loss of reflexes . Recently , myolysis was reported in few affected role with Anderson ’s disease . Myolysis refers to the dissolution or liquefaction of brawny tissue . It is frequently preceded by degenerative modification such as infiltration of fat , atrophy , and fat degeneration . Neuro - retinal reflection are occasionally present in young patients . However , neurologic signs may evolve more ofttimes later in untreated someone and consist most frequently of the loss of deep tendon reflexes .
This autosomal recessionary upset begins itself in babyhood ( less than 10 months ) , and although the clinical expression is varying , it is characterise by sound hypocholesterolemia , hypotriglyceridemia , lipid malabsorption , diarrhea , retinitis pigmentosa , acanthocytosis , and spinocerebellar decadence . infant confront with failure to thrive and chronic diarrhea are unremarkably link with chylomicron retentiveness disease . Acanthocytosis ( appearance of thorn - same RBC ) and retinitis pigmentosa ( partitioning and loss of cells in the retina ) are seldom observed in Anderson ’s disease . A low - fat diet supplemented with lipid soluble vitamins ( A and Es ) resultant role in the recommencement of normal development with abatement of the GI symptoms .
Ophthalmologic tortuousness ( minor optical abnormalities ) are less wicked in CRD than in other types of familial hypocholesterolemia . Cardiomyopathy and muscular manifestations have also been described . all-important fatty acid deficiency is especially severe early in life . misfortunate mineralization and delayed bone maturation can go on . Hepatic steatosis is common and hepatomegaly is reported to pass in about 20 % of chylomicron holding disease patients . Although hepatic steatosis is a known complication of hypobetalipoproteinemia , in chylomicron retentivity disease it was detected in very few case , and no case of cirrhosis were reported .
Muscular ill symptom like sinewy pain in the neck and cramps are described in some older patients with a delayed diagnosis . Perhaps as a consequence of malabsorption , malnutrition and vitamin D insufficiency , these patient role may complicate with poor mineralization and stay bone maturation .
Conclusion
Anderson ’s disease and/or Chylomicron holding disease is a ancestral syndrome that affects the soaking up of dietary fat , cholesterin , and sure fat - soluble vitamin . It manifest in early childhood or other puerility . Failure to flourish is the key physical sign and symptoms advise that a child is malnourished . It appears in the first few month after giving birth and the syndrome is associate with chronicdiarrhea , steatorrhea , neurological complications , muscular ramification , cardiomyopathy , growth retardation , hepatic steatosis , and ophthalmic tortuousness . The disease follows an autosomal recessionary design of inheritance .
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