Cost evaluation of the medical management of neurofibromatosis 1: a prospective study on 201 patients

Abstract

Neurofibromatosis 1 (NF1) is associated with many internal complications as well as skin manifestations, and patients may require a variety of medical and surgical interventions. We aimed to assess the medical needs of NF1 patients, and to evaluate the financial cost of the resources used for them in relation to the severity of the disease. We conducted a prospective analysis on a cohort of 201 patients in our referral centre for adults. Severity of the disease was assessed. Therapeutic management was considered as multidisciplinary if it required more than three different specialists. Plastic and dermatological surgery procedures performed were recorded. Hospital costs were computed over a 3-year period and included all hospitalization days, clinic visits and procedures performed in all departments where the patients were admitted. One hundred and thirty-seven patients had at least one out-patient procedure or one hospitalization during the follow-up period. The mean cost per patient per year was pound810 (median 240; range 0-13, 860). Multidisciplinary procedures were more frequent in moderately and severely affected NF1 patients than in milder cases (P < 0. 0001); hence, the costs for moderate and severe cases were higher than for less severe groups (P = 0.005). Plastic and/or dermatological surgery was performed with the same frequency in the different severity groups (71%). Regardless of the presence of serious intractable complications, the patients' priority is for treatment of the disfigurement due to the disease. The management of these patients can be considered relatively inexpensive from the viewpoint of the healthcare system.

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients

“…Defining easily recognizable clinical features as potential predictors of mortality is a further step in the clinical management of neurofibromatosis. We have previously shown that systematic investigations in patients with NF1 do not significantly improve the detection of complications when compared to a clinical follow‐up and is not cost effective [Wolkenstein et al, 2000; Drappier et al, 2003]. The clinical features associated with mortality define a new population at risk for complications that may need closer clinical follow‐up.…”

Spinal deformity in neurofibromatosis type-1: diagnosis and treatment

“…Approximately 50% of patients with NF-1 will develop severe orthopaedic complications during childhood with spinal deformity and congenital pseudarthrosis of the tibia creating the most challenging therapeutic dilemmas [12,71]. A recent study reported that 70% of affected individuals would require hospitalization to address surgical or medical issues directly related to neurofibromatosis [79]. Familiarity with the various manifestations of NF-1 in different anatomic locations is, therefore, critical in making an early diagnosis and optimizing treatment.…”

Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1

“…Whereas these are the most common manifestations of NF1, the precise constellation of findings in any one individual is extremely variable, both within a family and between different families. Although a number of studies have examined adults' perceptions of NF1, no studies have examined this issue from an adolescent point of view [4,6]. Given the important developmental tasks of adolescence, such as development of cognitive abilities and abstract thought, it is important that clinicians understand factors that may impact these tasks, including a patient's perception of a chronic illness.…”