Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis

Abstract

BackgroundHereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient’s quality of life (QL). In addition, different genotypes are identified as results of genetic tests in patients with suspected primary iron overload. In the present study, our aim was to evaluate whether domains of QL are different according to genotypic groups in patients suspected of HH.MethodsSeventy-nine patients with primary iron overload were included and two genotypic groups were formed (group 1: homozygous genotype for the HFE p.Cys282Tyr mutation; group 2: other genotypes).ResultsGroup 1 had higher means of plasma transferrin saturation (86 ± 19%) and serum ferritin (1669 ± 1209 ng/mL) compared to group 2 (71 ± 12%, 1252 ± 750 ng/mL, respectively; p = 0.001). Four domains were significantly different among groups 1 and 2: physical functioning (p = 0.03), bodily pain (p = 0.03), vitality (p = 0.02) and social functioning (p = 0.01).ConclusionsOur main finding was that patients with p.Cys282Tyr homozygosity had a worse QL scenario assessed by SF-36, compared with patients with iron overload without the same genotype. Being aware of this relationship between genotypes and QL might be helpful in the overall management of patients suspected of hereditary hemochromatosis.Electronic supplementary materialThe online version of this article (doi: 10.1186/s12881-017-0513-5) contains supplementary material, which is available to authorized users.

Quality of Life Scores Remained Different among the Genotypic Groups of Patients with Suspected Hemochromatosis, Even after Treatment Period

“…In an initial phase of the study by our group, evaluating the QL of 79 patients with suspected hemochromatosis, we observed that four of the eight domains of the SF-36 questionnaire were significantly different among genotypic groups of patients. Group 1 (patients with primary iron overload and that demonstrated homozygous genotype for the HFE p.Cys282Tyr) had worse QL scores compared with group 2 (the one that had the patients with primary iron overload and other genotypes) [ 13 ]. In this scenario, the main aims of the reported final phase of this study were to compare QL scores according to the genotypic groups of patients after a treatment period of approximately 3 years and to further analyze a possible association of the serum ferritin values with QL scores.…”

“…The first phase of this study was described by Fonseca et al [ 13 ]. In this phase, 79 patients were analyzed, in which they proposed to verify whether QL domains, assessed by SF-36, were different or not according to genotypic groups in the patients with suspected hemochromatosis.…”

“…The Short Form 36 (SF-36) questionnaire is a popular generic instrument to evaluate health-related quality of life [ 11 ]. It consists of eight domains comprising physical and mental component scores, and it has been validated for the Brazilian population in the Portuguese language [ 12 , 13 ].…”

Haemochromatosis revisited

“…The clinical diagnosis of iron overload is of course the starting point before treating and monitoring the patient. Early diagnosis and treatment are essential for improving survival and for a better quality of life[ 5 ]. The present review focuses on new information on classification, pathophysiology, and therapeutic recommendations.…”