The economic impact of Marfan syndrome: a non-experimental, retrospective, population-based matched cohort study

Abstract

BackgroundMarfan syndrome is a rare disease of the connective tissues, affecting multiple organ systems. Elevated morbidity and mortality in these patients raises the issue of costs for sickness funds and society. To date, there has been no study analysing the costs of Marfan syndrome from a sickness fund and societal perspective.ObjectiveTo estimate excess health resource utilisation, direct (non-)medical and indirect costs attributable to Marfan syndrome from a healthcare payer and a societal perspective in Germany in 2008.MethodsA retrospective matched cohort study design is applied, using claims data. For isolating the causal effect of Marfan syndrome on excess costs, a genetic matching algorithm was used to reduce differences in observable characteristics between Marfan syndrome patients and the control group. 892 patients diagnosed with Marfan syndrome (ICD-10 Q87.4) were matched from a pool of 26,645 control individuals. After matching, we compared health resource utilisation and costs.ResultsFrom the sickness fund perspective, an average Marfan syndrome patient generates excess annual costs of €2496 compared with a control individual. From the societal perspective, excess annual costs amount to €15,728. For the sickness fund, the strongest cost drivers are inpatient treatment and care by non-physicians. From the sickness fund perspective, the third (25–41 years) and first (0–16 years) age quartiles reveal the greatest surplus in total costs. Marfan syndrome patients have 39% more physician contacts, a 153% longer average length of hospital stay, 119% more inpatient stays, 33% more prescriptions, 236% more medical imaging and 20% higher average prescription costs than control individuals. Depending on the prevalence, the economic impact from the sickness fund perspective ranges between €24.0 million and €61.4 million, whereas the societal economic impact extends from €151.3 million to €386.9 million.ConclusionsRelative to its low frequency, Marfan syndrome requires high healthcare expenditure. Not only the high costs of Marfan syndrome but also its burden on patients’ lives call for more awareness from policy-makers, physicians and clinical researchers. Consequently, the diagnosis and treatment of Marfan syndrome should begin as soon as possible in order to prevent disease complications, early mortality and substantial healthcare expenditure.

Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy

“…3,4,25,26 Although participants with supportive employers and good insurance coverage perceived a lower economic burden than participants without these protections, study narratives suggest that a discussion of the family's economic situation may be a useful addition to genetic counseling sessions. 32,33 Indeed, at-risk individuals need to know that a positive test result generally makes them ineligible for life insurance.…”

“…[24][25][26][27] Despite this, relatively little is known about their associated economic burden beyond direct medical costs. 24,25 However, a more comprehensive understanding of disease burden, including nonclinical burdens such as financial impact, is required to personalize disease management according to families' needs.…”

“…For example, economic burden data may assist in developing effective intervention programs, facilitate treatment evaluation, and potentially inform the development of financial support policies for patients and their families. [24][25][26] A recent systematic review of cost of illness evidence across 10 rare diseases (most of them genetic) reported that cost evidence was meager for all but two disorders: cystic fibrosis and hemophilia. 25 Nonetheless, the review found a substantial economic burden of rare diseases, including both direct costs (e.g., treatment) and indirect costs-in particular, productivity losses incurred by informal caregivers.…”

“…28 Some of this study's participants noted the direct travel and medication costs associated with management of ARVC, in line with recent research on rare diseases. [24][25][26] Some families affected by Lynch syndrome in our jurisdiction have also suggested that prohibitive costs are a barrier to recommended colon cancer screening and ongoing risk management. 29 Beyond these direct costs, however, study findings revealed the breadth of perceived economic impact associated with ARVC, consistent with a recent systematic review that suggested that indirect costs were as burdensome for sufferers of rare diseases as direct costs.…”

Involvement of cardiovascular system in hereditary disorders of connective tissue

“…10-летняя смертность пациентов после расслоения аневризмы составляет 50-70% [6], что обуславли-вает важность ранней диагностики, правильного медикаментозного лечения, а также своевременно и качественно проведенного хирургического лече-ния. Средняя продолжительность жизни больных синдромом Марфана составляет около 70 лет [1].…”