Premium
Urogenital symptoms in mitochondrial disease: overlooked and undertreated
Author(s) -
Poole O. V.,
Uchiyama T.,
Skorupinska I.,
Skorupinska M.,
Germain L.,
Kozyra D.,
Holmes S.,
James N.,
Bugiardini E.,
Woodward C.,
Quinlivan R.,
Emmanuel A.,
Hanna M. G.,
Panicker J. N.,
Pitceathly R. D. S.
Publication year - 2019
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.13952
Subject(s) - medicine , lower urinary tract symptoms , overactive bladder , genitourinary system , sexual dysfunction , mitochondrial dna , urinary system , disease , mitochondrial disease , erectile dysfunction , gastroenterology , urology , gynecology , pathology , prostate , biochemistry , chemistry , alternative medicine , cancer , gene
Background and purpose Bowel symptoms are well documented in mitochondrial disease. However, data concerning other pelvic organs is limited. A large case–control study has therefore been undertaken to determine the presence of lower urinary tract symptoms ( LUTS ) and sexual dysfunction in adults with genetically confirmed mitochondrial disease. Methods Adults with genetically confirmed mitochondrial disease and control subjects were recruited from a specialist mitochondrial clinic. The presence and severity of LUTS and their impact on quality of life, in addition to sexual dysfunction and bowel symptoms, were captured using four validated questionnaires. Subgroup analysis was undertaken in patients harbouring the m.3243A>G MT ‐ TL 1 mitochondrial DNA mutation. A subset of patients underwent urodynamic studies to further characterize their LUTS . Results Data from 58 patients and 19 controls (gender and age matched) were collected. Adults with mitochondrial disease had significantly more overactive bladder (81.5% vs. 56.3%, P = 0.039) and low stream (34.5% vs. 5.3%, P = 0.013) urinary symptoms than controls. Urodynamic studies in 10 patients confirmed that bladder storage symptoms predominate. Despite high rates of LUTS , none of the patient group was receiving treatment. Female patients and those harbouring the m.3243A>G MT ‐ TL 1 mutation experienced significantly more sexual dysfunction than controls (53.1% vs. 11.1%, P = 0.026, and 66.7% vs. 26.3%, P = 0.011, respectively). Conclusions Lower urinary tract symptoms are common but undertreated in adult mitochondrial disease, and female patients and those harbouring the m.3243A>G MT ‐ TL 1 mutation experience sexual dysfunction. Given their impact on quality of life, screening for and treating LUTS and sexual dysfunction in adults with mitochondrial disease are strongly recommended.