Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study

Abstract

Quality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications. In this retrospective cohort study we explored the effect of pain (measured by the Brief Pain Inventory), phenotype, treatment, and FD-related complications on QoL. QoL data of Fabry patients as assessed by the EuroQol five dimension questionnaire (EQ-5D) from two international centers of excellence were collected. The aim of this study was to evaluate the effect of sex, phenotype, age, different states of disease severity, pain, and ERT on EQ-5D utilities. For 286 adult FD patients (mean age 42.5 years, 40% men, 60% classical phenotype) 2240 EQ-5Ds were available. QoL is decreased in men as well as women with FD, especially in older men with a classical phenotype. At age 50, utility was lower in men with classical FD compared to those with non-classical disease (β = −0.12, 95% CI: -0.23 – 0.01, p = 0.037) with further difference in the years thereafter. Cardiovascular complications, stroke or transient ischemic attacks, multiple FD-related complications and pain were also associated with decreased utilities. Overall, no change in utility was seen in patients on ERT over a mean follow-up of 6.1 years. FD leads to a decreased QoL compared to the general population. Disease complications and pain both negatively influence QoL. Adequate assessment and treatment of pain as well as improved strategies to prevent disease complications are needed to improve QoL in the FD population.Electronic supplementary materialThe online version of this article (10.1007/s10545-017-0095-6) contains supplementary material, which is available to authorized users.

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

“…This instrument revealed overall HrQoL impairment in a wide range of IMDs, including Fabry disease [ 52 – 59 ], Gaucher disease type I [ 60 , 61 ], Pompe disease [ 62 – 65 ], mevalonate kinase deficiency [ 66 ], hereditary hemochromatosis [ 67 ], acute porphyrias [ 68 ], MELAS [ 69 ], McArdle disease [ 70 ], MPS [ 35 , 71 ], Niemann-Pick type B [ 47 ], Niemann-Pick type C [ 72 ] and X-linked hypophosphatemia [ 73 ]. The EQ-5D (15%) showed consistently low HrQoL scores in Fabry disease [ 52 , 53 , 74 ], Pompe disease [ 75 ], MPS [ 76 , 77 ] and acute porphyrias [ 68 ]. Less frequently used tools, namely TAAQOL (6%), SF-12 (4%), PLC (4%), SIP-136 (one study) and WHOQOL-BREF (one study), detected reduced HrQoL in galactosemia (only at the mental level) [ 78 , 79 ], hypophosphatasia [ 80 ], MELAS [ 69 ] and oculocutaneous albinism (only at the physical level) [ 81 ].…”

“…The detrimental effect of IMDs on patients’ HrQoL is mainly attributed to disease severity and associated complications, but also to its emotional and financial burden. We found several parameters and comorbidities associated with impaired HrQoL, namely, age, kidney and respiratory function, pain, overweight, the burden of a restrictive diet as well as gastrointestinal, cardiovascular, skeletal and neurologic involvement [ 52 , 57 , 58 , 60 , 61 , 63 , 74 , 76 – 79 , 87 – 92 ].…”

Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease

“…Meanwhile several hundred diverse mutations have been described, which are mostly ‘private’ in terms of being present only in members of one single family. Due to X‐linked inheritance, hemizygous men are always affected; however, women may also develop severe symptoms . Molecular genetic testing in specialized laboratories is expensive and time‐consuming.…”

The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia

“…Other symptoms found to be associated with FD include: nausea, vomiting and diarrhoea; dyspnoea; auditory and vestibular symptoms such as hearing loss, vertigo, and tinnitus; lymphoedema; and osteopenia and osteoporosis [1]. Fabry disease has been found to be linked with poorer quality of life compared to the general population [6,7], particularly for those with kidney manifestations, more severe disease and amongst older patients [6].…”