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Genetic and Rare Diseases Information Center (GARD)

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Imerslund-Grasbeck syndrome


Other Names for this Disease

  • Defect of enterocyte intrinsic factor receptor
  • Enterocyte cobalamin malabsorption
  • Familial megaloblastic anemia
  • Gräsbeck-Imerslund disease
  • IGS
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Your Question

Is it possible for it to go undiagnosed into adulthood or for symptoms not to start until adulthood - say late 20's?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Can symptoms of Imerslund-Grasbeck syndrome begin in adulthood?

We are not aware of reports in the medical literature documenting symptoms of Imerslund-Grasbeck syndrome (IGS) beginning in adulthood. There have been reports of individuals who had symptoms of the condition since childhood, but did not receive the specific diagnosis of IGS until later on. An individual may be diagnosed with another form of anemia and be treated with vitamin B12, which is also used to treat Imerslund-Grasbeck syndrome.[1]
Last updated: 1/7/2014

What are the signs and symptoms of Imerslund-Grasbeck syndrome?

Affected individuals often first experience non-specific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals also have mild proteinuria but no signs of kidney disease. Individuals may also have mild neurological damage. Congenital (present at birth) abnormalities of the urinary tract were present in some of the original reported cases. The age at diagnosis is usually anywhere from a few months of age to about 14 years of age.[2][3]
Last updated: 1/6/2014

How is Imerslund-Grasbeck syndrome diagnosed?

The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin B12 malabsorption must then be ruled out. Lastly, it must be shown that after correcting the deficiency, the only nutrient to be poorly absorbed is vitamin B12. The diagnosis can also be confirmed by having genetic testing of the genes that are known to cause the condition. While the presence of proteinuria is strongly suggestive of IGS, not all affected individuals have proteinuria.[2]
Last updated: 1/6/2014

References
  • Kishan Prasad Hosapatna Laxminarayana, Sunil Kumar Yeshvanth, Jayaprakash K Shetty, Harish S Permi, and Chandrika Rao. Unusual Cause of Childhood Anemia: Imerslund Grasbeck Syndrome. J Lab Physicians. July-December, 2011; 3(2):113–115. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249707/. Accessed 1/7/2014.
  • Ralph Gräsbeck. Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria). Orphanet J Rare Dis. May 19, 2006; 1(17):Accessed 1/6/2014.
  • Ralph Gräsbeck. Gräsbeck-Imerslund disease. Orphanet. May, 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35858. Accessed 1/6/2014.
Other Names for this Disease
  • Defect of enterocyte intrinsic factor receptor
  • Enterocyte cobalamin malabsorption
  • Familial megaloblastic anemia
  • Gräsbeck-Imerslund disease
  • IGS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.