Experiences of living with trimethyalminuria, a metabolic disorder which leads to breath and body odour

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BioMed Central
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Living with trimethylaminuria and body and breath malodour: personal perspectives - BMC Public Health

Background Many people suffer from body and breath malodour syndromes. One of these is trimethylaminuria, a condition characterized by excretion in breath and bodily fluids of trimethylamine, a volatile and odorous chemical that has the smell of rotting fish. Trimethylaminuria can be primary, due to mutations in the gene encoding flavin-containing monooxygenase 3, or secondary, due to various causes. To gain a better understanding of problems faced by United Kingdom residents affected by body and breath malodour conditions, we conducted a survey. Methods Two anonymous online surveys, one for adults and one for parents/guardians of affected children, were conducted using the Opinio platform. Participants were invited via a trimethylaminuria advisory website. Questions were a mix of dropdown, checkbox and open-ended responses. Forty-four adults and three parents/guardians participated. The dropdown and checkbox responses were analysed using the Opinio platform. Results All participants reported symptoms of body/breath odour. However, not all answered every question. Twenty-three respondents experienced difficulties in being offered a diagnostic test for trimethylaminuria. Problems encountered included lack of awareness of the disorder by medical professionals and reluctance to recognise symptoms. Of those tested, 52% were diagnosed with trimethylaminuria. The main problems associated with living with body/breath malodours were bullying, harassment and ostracism in either the workplace (90%) or in social settings (88%). All respondents thought their condition had disadvantaged them in their daily lives. Open-ended responses included loss of confidence, stress, exclusion, isolation, loneliness, depression and suicidal thoughts. Respondents thought their lives could be improved by greater awareness and understanding of malodour conditions by medical professionals, employers and the general public, and appreciation that the malodour was due to a medical condition and not their fault. Conclusions Breath and body malodour conditions can cause immense hardship and distress, both mentally and socially, having devastating effects on quality of life. It would be advantageous to establish a standardised pathway from primary care to a specialist unit with access to a robust and reliable test and diagnostic criteria. There is a need to recognise malodour disorders as a disability, giving affected individuals the same rights as those with currently recognised disabilities.

What is trimethylaminuria?

Trimethylaminuria is a rare disorder characterised by impaired metabolism of trimethylamine, a volatile amine which has a strong odour resembling rotting fish. Trimethylamine leaves the body as a gas through the breath, sweat and other bodily secretions, giving individuals an unpleasant and distinctive body odour. There are both acquired and inherited forms of the condition which arise from disturbance of a metabolic axis including the gut microbiome and a hepatic enzyme FMO3.


Why did we do this study?

Individuals with trimethylaminuria often appear physically healthy. However, we now understand the disorder in its biopsychosocial context and know that social isolation and stress eventually impact negatively on physical health. Until now there has been only anecdotal and small study evidence of the psychological and social consequences of living with trimethylaminuria. It is estimated that 1 in 40,000 people may have the inherited form of the disorder, with many more having a mixed or acquired version of the disorder. There is currently no guidance on the diagnosis and management of trimethylaminuria in the UK.

 

What did we find?

Our findings show that trimethylaminuria can cause immense hardship and distress. Quantitative data showed that 90% of respondents felt disadvantaged in the workplace, and 90% felt disadvantaged in their social lives. Interestingly, only 28% and 21% of respondents felt disadvantaged in school or university respectively. 90% of respondents had suffered bullying, harassment, and ostracism in the workplace. Another key theme which emerged was difficulty and delay in gaining a diagnosis or diagnostic test. Only 73% of respondents had been offered a diagnostic urine test for trimethylaminuria, and only 22% had been offered a genetic test. Qualitative responses highlighted a concerning lack of understanding and compassion from clinicians, and that people with trimethylaminuria generally felt unsupported by the health service.

What next?

Respondents had an opportunity to suggest changes which would improve quality of life. Many suggested that a greater understanding of trimethylaminuria and its consequences by their healthcare providers, authority figures and the public. Respondents wished that there were protections in place to stop them from being discriminated against, others thought that because of the unpredictable nature of symptoms more flexibility in work and study would be beneficial. These suggestions could be facilitated by classifying trimethylaminuria as a disability under the Equality Act 2010. This would protect individuals from discrimination and allow reasonable adjustments by employers and educators.

 

There are currently no definitive treatments for trimethylaminuria, but trimethylamine excretion can sometimes be lessened with a restrictive diet, riboflavin supplements, and probiotics. Short-term antibiotic therapy has been used in some individuals, however this does not cause long-term symptom relief. Importantly, there is no clinical guidance for the management of trimethylaminuria. Publication of such evidence-based advice would be hugely beneficial for clinicians and patients alike.

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