Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Exocrine pancreatic insufficiency (ePI) with failure to absorb fat is a life-threatening condition. Patients are not only depleted of fats but may also suffer from coagulopathy, rickets, anemia, and corneal disease as a result of deficiency of fat-soluble vitamins. ePI is a common feature of cystic fibrosis (CF) and occurs in 95% of the patients. The association of ePI and hematologic dysfunction is rarer and has been reported in Shwachman-Bodian-Diamond syndrome (SBDS) and in Pearson syndrome (PS). In CF and SBDS, the pancreatic acinar cells are replaced by fat, whereas in PS the pancreas is atrophic and fibrotic. Hematologic abnormalities are common in patients with SBDS and PS; in SBDS the bone marrow is hypoplastic and fatty, and patients suffer from intermittent deficiency of myeloid lineages and susceptibility to infections, whereas in PS there is typically refractory sideroblastic anemia, which is usually macrocytic, and the bone marrow has normal cellularity and distinctive vacuolization. PS is caused by a deletion of mitochondrial DNA (mtDNA), and because of changing heteroplasmy, the condition may resolve spontaneously or progress to Kearns-Sayre syndrome (MIM 530000).4,5

Researchers reported a new syndrome characterized by ePI, dyserythropoietic anemia, and calvarial hyperostosis in four patients originating from two families of Arab-Muslim origin.[1]

References

  1. name="pmid19268275">Shteyer E, Saada A, Shaag A, Al-Hijawi FA, Kidess R, Revel-Vilk S, Elpeleg O (2009). "Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene". American Journal of Human Genetics. 84 (3): 412–7. doi:10.1016/j.ajhg.2009.02.006. PMC 2668012. PMID 19268275. Retrieved 2012-07-15. Unknown parameter |month= ignored (help)

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