Prevalence of anemia in patients with epidermolysis bullosa registered in Australia

BACKGROUND: Anemia is a common complication of epidermolysis bullosa (EB). To date, no extensive data on the prevalence of anemia in EB patients have been well characterized worldwide. OBJECTIVE: To determine and to characterize the prevalence of anemia in the Australian EB population by conducting a retrospective cross-sectional study. METHODS: All (n = 368) EB patients registered in the Australasian Epidermolysis Bullosa Registry (AEBR) from 2006 to 2012 were reviewed for pathological evidence of anemia. Patients with EB without anemia and those without hematological parameters were excluded from the study. Patients’ particulars were separated into pediatric (< 18 years old) and adult (≥ 18 years old) male and female subgroups. RESULTS: One-hundred sixty-nine out of 368 EB patients had eligible blood results to be analyzed, as milder forms of EB did not routinely have laboratory testing; 27.8% (n = 47/169) of EB patients were anemic at any time point in their lifetime. All generalized severe junctional EB (JEB-GS) cases (100%, n = 4/4); 68.0% (n = 17/25) of recessive dystrophic EB (RDEB); and 37.5% (n = 6/16) of generalized intermediate JEB (JEB-I) patients were anemic. LIMITATIONS: As EB is an orphan disease, the limited sample size may have affected the significance of the study result. CONCLUSION: The high prevalence of anemia seen in RDEB and JEB generalized severe (JEB-GS) patients in our cohort is similar to those reported in case series.