Using pre-existing social networks to determine the burden of disease and real-life needs in rare diseases: the example of Thygeson's superficial punctate keratitis

Abstract

Background Thygeson’s superficial punctate keratitis (TSPK) is a rare and still poorly understood disease of the ocular surface, responsible for recurrent episodes of photophobia and eye pain. While TSPK is considered as a benign condition, a subset of patients has frequent recurrences or even chronic disease, two situations in which there are currently no therapeutic guidelines. We used a preexisting Facebook TSPK patient support group to assess the clinical journey and the burden of disease of TSPK. Results An online survey was sent to the patient support group. The first part of the questionnaire gathered information on demographics and the patient’s clinical journey [diagnostic modalities, symptoms, duration and frequency of recurrent episodes (RE), efficacy and tolerance to treatments]. The second part focused on quality of life (QoL) using the Ocular Surface Disease-QoL (OSD-QoL) questionnaire. Seventy-two patients out of 595 members of the support group completed the questionnaire during the 3-months study period. Eighty percent of patients developed symptoms before 30 years old, and 47% reported a delay in the diagnosis above 1 year. Sixty percent of patients reported over 5 RE yearly, and 18% of RE lasted more than 3 months. Forty percent of all patients used cyclosporine eyedrops (50% of those with > 5 episodes/year) and it was perceived as effective by 72% of these patients. The impact on daily life activities was judged as severe by 22% of patients, while 38% reported reduced professional activity and 80% were deeply saddened by their eye condition. Conclusion TSPK patients may present with frequent recurrences and/or chronic disease, that result in a severe impact on QoL, and an off-label use of topical immunomodulatory eye drops, suggesting the urgent need for controlled studies. The utility of using social networks for rare ophthalmic disease research includes, faster data collection, data from patients across the globe, and also raises relevant questions about their real needs.

Rare Case of Thygeson Superficial Punctate Keratitis After COVID-19 Vaccination

“…8,9 Although considered a generally benign condition, the recurrent nature of the disease, often characterized by pain and photophobia, makes TSPK a particularly distressful condition with a significant impact on quality of life. 10…”

“…8,9 Although considered a generally benign condition, the recurrent nature of the disease, often characterized by pain and photophobia, makes TSPK a particularly distressful condition with a significant impact on quality of life. 10 The etiology of TSPK remains to be fully elucidated and several hypotheses regarding pathogenesis have been proposed over the years. Historically, the condition has been believed to be infectious in nature, given the isolation of viral particles in early reports.…”

Thygeson Superficial Punctate Keratitis: A Clinical and Immunologic Review

“…According to a recent study of a TSPK online community, approximately 65% of patients diagnosed with TSPK had .6 month delay after symptom onset. 57 Although largely self-resolving, the study reported that the impact on daily life was moderate for 53% of patients and 22% for severe TSPK and 80% report being deeply saddened by their eye condition. 57 TREATMENT Drug delivery is a common obstacle in the treatment of inflammatory diseases of the corneal surface.…”

“…57 Although largely self-resolving, the study reported that the impact on daily life was moderate for 53% of patients and 22% for severe TSPK and 80% report being deeply saddened by their eye condition. 57 TREATMENT Drug delivery is a common obstacle in the treatment of inflammatory diseases of the corneal surface. The tear film and epithelial surfaces are a formidable barrier for drops or ointments with poor ocular penetration.…”

“…57 Although largely self-resolving, the study reported that the impact on daily life was moderate for 53% of patients and 22% for severe TSPK and 80% report being deeply saddened by their eye condition. 57…”