Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers

Crall, Cary; Valle, M. Dalla; Kapur, Kush; Dies, Kira; Liang, Marilyn G.; Şahin, Mustafa; Huang, Jennifer T.

doi:10.1111/pde.12933

Cited by 17 publications

(18 citation statements)

References 17 publications

(31 reference statements)

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“…They reported that the total scores on the DLQI and CDLQI after 12 weeks of treatment did not differ markedly between the sirolimus gel group and the placebo group 7 . Similar ndings were reported in previous studies analyzing the QOL improvement of patients with topical mTOR inhibitors for FA associated with TSC using the DLQI and CDLQI 11,12 . The DLQI and CDLQI are often used for QOL assessments in the treatment of skin diseases 7,13,14 .…”

Section: Discussionsupporting

confidence: 89%

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Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex.

Hatano

Ohno

Imai

et al. 2020

Preprint

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Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient's quality of life (QOL). The aim of this study was to characterize the impact of topical sirolimus treatment on the health-related QOL in patients with FA associated with TSC.Methods: We investigated a total of 33 patients who received sirolimus gel treatment for FA associated with TSC and assessed the changes in the health-related QOL using the Medical Outcomes Study 36-Item Short Form (SF-36) Health Survey. SF-36 surveys were performed before and after three months of treatment. The conditions of the patients after using the sirolimus gel were categorized into the following three categories: "improved," "unchanged," and "aggravated." Adverse events were investigated using the CTCAE v5.0-JCOG.Results: The median age of the patients was 25 (range 14-55) years. After 3 months of sirolimus gel treatment, three scale scores of the SF-36, vitality (VT), social function (SF), and mental health (MH), were significantly improved compared to before the treatment. The VT and SF in patients who had improved FA were significantly better than those in the other patients. There were no significant differences in any scale scores between patients with and without adverse events at three months after the initiation of sirolimus gel treatment.Conclusions: This is the first report regarding improved health-related quality of life in patients treated with sirolimus gel for FA associated with TSC by using the SF-36. The three scale scores associated with mental health were significantly improved compared to before the treatment. The health-related QOL in patients receiving sirolimus gel treatment is more strongly affected by the treatment efficacy than adverse events. Mini-abstractSirolimus gel treatment improves the health-related QOL in patients with FA associated with TSC.

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Section: Discussionsupporting

confidence: 89%

“…FAs in uence the mental status of TSC patients and their families 12 . Since FAs often cause dis gurement, patients personality can become introverted, with reduced sociability 12 . Therefore, the treatment of FA might improve not only skin lesions but also mental health.…”

Section: Discussionmentioning

confidence: 99%

Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex.

Hatano

Ohno

Imai

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…They reported that the total scores on the DLQI and CDLQI after 12 weeks of treatment did not differ markedly between the sirolimus gel group and the placebo group 7 . Similar findings were reported in previous studies analyzing the QOL improvement of patients with topical mTOR inhibitors for FA associated with TSC using the DLQI and CDLQI 10,11 . The DLQI and CDLQI are often used for QOL assessments in the treatment of skin diseases 7,12,13 .…”

Section: Patient Characteristics Treatment Efficacy and Adverse Eventssupporting

confidence: 89%

Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex

Hatano

Ohno

Imai

et al. 2020

Preprint

View full text Add to dashboard Cite

Background : Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient's quality of life (QOL). The aim of this study was to characterize the impact of topical sirolimus treatment on the health-related QOL in patients with FA associated with TSC. Methods : We investigated a total of 33 patients who received sirolimus gel treatment for FA associated with TSC and assessed the changes in the health-related QOL using the Medical Outcomes Study 36-Item Short Form (SF-36) Health Survey. SF-36 surveys were performed before and after three months of treatment. The conditions of the patients after using the sirolimus gel were categorized into the following three categories: "improved," "unchanged," and "aggravated." Adverse events were investigated using the CTCAE v5.0-JCOG. Results : After 3 months of sirolimus gel treatment, three scale scores of the SF-36, vitality (VT), social function (SF), and mental health (MH), were significantly improved compared to before the treatment. The VT and SF in patients who had improved FA were significantly better than those in the other patients. There were no significant differences in any scale scores between patients with and without adverse events at three months after the initiation of sirolimus gel treatment. Conclusions : This is the first report regarding improved health-related quality of life in patients treated with sirolimus gel for FA associated with TSC by using the SF-36. The three scale scores associated with mental health were significantly improved compared to before the treatment. The health-related QOL in patients receiving sirolimus gel treatment is more strongly affected by the treatment efficacy than adverse events.

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“…As regards the proposed algorithm, we believe it is interesting but in our opinion topical rapamycin is always a good first choice and afterwards, if FA are still present (both in children and adults, and in mild but high emotional impact cases), a laser approach is useful, while curettage dermabrasion and electrocoagulation are now outdated. The use of laser therapy for the management of FA in TS has, in fact, been described since 1988 with good response, but long‐term follow‐up suggests high recurrence rates (a mean recurrence time of 3 years) .…”

Section: Discussionmentioning

confidence: 99%

Facial angiofibromas treated by rapamycin 0.05% ointment and a combined laser therapy

Negosanti¹,

Tengattini

Gurioli

et al. 2018

J of Cosmetic Dermatology

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Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers

Abstract: Presence and lack of treatment of AF significantly impacts QoL in TSC patients and their caregivers. Access to care for AF is limited by multiple factors and should be addressed by clinicians working with this patient population.

Cited by 17 publications

References 17 publications

Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex.

Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex.

Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex

Facial angiofibromas treated by rapamycin 0.05% ointment and a combined laser therapy

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