Abstract
Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS, affects ~6–15% carriers); however, emerging evidence indicates that some of these women experience complex health profiles beyond FXPOI and FXTAS.Methods: In an effort to better understand predictors for these comorbid conditions, we collected self-reported medical histories on 413 women who carry an FMR1 PM.Results: There were 22 health conditions reported by at least 9% of women. In an exploratory analysis, 12 variables were tested in logistic regression models for each comorbid condition, including demographic variables, environmental variables, PM-associated factors, and endorsement of depression and/or anxiety. More than half of the comorbid conditions studied were associated with women who self-reported having anxiety. Age, smoking, body mass index (BMI), and depression were also significant predictor variables for specific comorbid conditions.Conclusions: Age, smoking, and BMI were significantly associated with a subset of the comorbid conditions analyzed. Importantly, depression or anxiety were also significantly associated with many of the comorbid health conditions. This work highlights some of the modifiable factors associated with complex health profiles among women with an FMR1 PM.
Highlights
Individuals that carry an FMR1 premutation (PM) allele (55–199 CGG repeats) are at risk for varied health consequences, some of which are unique to women
Fragile X-associated tremor-ataxia syndrome occurs in women and men with a PM, typically after age 60 [6, 7], women have a lower absolute risk for fragile X-associated tremor-ataxia syndrome (FXTAS) compared with men [8]
Additional studies have suggested that women who carry a PM are at higher risk for developing other health problems, including autoimmune disorders, chronic pain disorders, fibromyalgia, endocrine disorders, thyroid problems, hypertension, seizures, mental health disorders, and symptoms related to FXTAS [11,12,13,14]
Summary
Individuals that carry an FMR1 premutation (PM) allele (55–199 CGG repeats) are at risk for varied health consequences, some of which are unique to women. Women with a PM are at risk for Fragile X Premutation Associated Conditions (FXPAC) which include fragile X-associated primary ovarian insufficiency (FXPOI), fragile X-associated tremor-ataxia syndrome (FXTAS), and Fragile X-Associated Neuropsychiatric Disorders (FXAND). Additional studies have suggested that women who carry a PM are at higher risk for developing other health problems, including autoimmune disorders, chronic pain disorders, fibromyalgia, endocrine disorders, thyroid problems, hypertension, seizures, mental health disorders, and symptoms related to FXTAS [11,12,13,14]. Movaghar et al [18] identified several mental health diagnoses in a review of 20,000 electronic health records, including agoraphobia, social phobia, and anxiety disorder, as occurring more frequently in PM women
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