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. 2019 Aug;26(8):1111-1120.
doi: 10.1111/ene.13952. Epub 2019 Apr 30.

Urogenital symptoms in mitochondrial disease: overlooked and undertreated

O V Poole  1 , T Uchiyama  2   3   4 , I Skorupinska  1 , M Skorupinska  1 , L Germain  1 , D Kozyra  1 , S Holmes  1 , N James  1 , E Bugiardini  1 , C Woodward  5 , R Quinlivan  1   6 , A Emmanuel  7 , M G Hanna  1 , J N Panicker  2 , R D S Pitceathly  1
Affiliations

Urogenital symptoms in mitochondrial disease: overlooked and undertreated

O V Poole et al. Eur J Neurol. 2019 Aug.

Abstract

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-TL1 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-TL1 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-TL1 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.

Keywords: bladder symptoms; bowel symptoms; lower gastrointestinal tract symptoms; lower urinary tract symptoms; mitochondrial disease; sexual dysfunction; urogenital symptoms.

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Conflict of interest statement

Tomoyuki Uchiyama: International Continence Society/Pfizer International Fellowship 2017. All the other authors declare no financial or other conflicts of interest.

Figures

Figure 1
Figure 1
Urinary symptoms across domains of the Urinary Symptom Profile in adults with mitochondrial disease and controls. (a)–(c) Presence of symptoms in the total population and subgroups. (d)–(f) Severity of symptoms in the total population and subgroups demonstrating significant findings. LS, low stream; OAB, overactive bladder; SUI, stress urinary incontinence. *P < 0.05.
Figure 2
Figure 2
Sexual activity (a), sexual dysfunction (b) and bowel symptoms (c) in adults with mitochondrial disease and controls. *P < 0.05, **P < 0.01.
See this image and copyright information in PMC

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