The psychological burden of an initially unexplained illness: patients with sternocostoclavicular hyperostosis before and after delayed diagnosis

Abstract

BackgroundSternocostoclavicular hyperostosis (SCCH) is a rare, debilitating, chronic inflammatory disorder of the anterior chest wall due to a chronic sterile osteomyelitis of unknown origin. SCCH is largely underdiagnosed and often misdiagnosed. In individual cases it can remain unrecognized for years. The purpose of this study is twofold. Firstly, to evaluate the psychological condition of SCCH patients, both in the sometimes quite extended pre-diagnostic period between first manifestations and confirmed diagnosis of the disease, and in the current situation. Secondly, to investigate the relationships between the pre-diagnostic and the current psychological conditions of confirmed SCCH patients.MethodsStructured interviews were held with 52 confirmed SCCH patients. Questionnaires were included to assess posttraumatic stress symptoms, social support, aspects of pain, illness perceptions, self-reported health status, and quality of life.ResultsSCCH patients reported stronger posttraumatic stress symptoms, more unfavorable illness perceptions, lower health status, and poorer quality of life than healthy individuals and patients with other diseases or traumatic experiences. Psychological distress in the pre-diagnostic period was associated with unfavorable conditions in the current situation.ConclusionSCCH is an illness with serious psychological consequences. Psychological monitoring of patients with unexplained complaints is recommended as long as a diagnosis has not been reached.

Can the EVIDEM Framework Tackle Issues Raised by Evaluating Treatments for Rare Diseases: Analysis of Issues and Policies, and Context-Specific Adaptation

“…preventing, curing, or alleviating) severe diseases have higher value than those targeting less severe diseases Severe, chronic, progressive, and life-threatening diseases, with multiple medical and nonmedical (i.e. psychological, social) consequences [ 1 – 3 , 57 , 72 ] Significant impact on caregivers’ QoL [ 1 – 3 , 69 ] Lack of knowledge/data on natural history [ 4 ] Addition of subcriteria defining all key aspects of disease severity: Effect on life expectancy Effect on morbidity (includes disability and function) Effect on patient QoL Effect on caregiver QoL Size of population affected Alleviate suffering in as many individuals as possible (utility theory) Interventions benefiting large numbers of individuals have greater value than those benefiting few individuals Definition of rare disease Rarity in itself not a prioritization criterion [ 51 , 52 , 63 , 66 ] Challenge in obtaining high-quality epidemiological data [ 5 – 8 ] Specification of scoring scale options with standard definitions of rare and ultra-rare diseases Unmet needs Alleviate suffering in individuals with limited alternative interventions (theory of justice) Interventions for which there are no alternatives or where alternative interventions have major limitations have greater value than those for which there are alternatives that have only minor limitations Limited number of targeted treatments [ 3 ] Limited number of clinicians familiar with a rare condition [ 3 ] Limited access to appropriate health services [ 3 ] No adaptation required Objective: providing large improvements in health outcomes Comparative effectiveness Alleviate suffering to the greatest extent (beneficence, deontology) Interventions that provide major improvements in efficacy/effectiveness have greater value than those with lower efficacy/effectiveness than comparators Need to define most relevant efficacy/effectiveness outcomes for each disease [ ...…”

“…libertarian, communitarian, egalitarian, and utilitarian) [ 79 ], solidarity with those most in need is a key concept [ 56 ], as expressed in surveys of the general European population [ 51 , 63 ]. Patients with rare diseases may be seen as a particularly disadvantaged population as they are often affected by social isolation [ 1 , 57 ], delayed diagnosis [ 1 , 3 , 72 ], and inequalities in access to adequate treatment and care [ 1 ]. The disadvantaged status of these patients is acknowledged in regulatory policies that support research in orphan diseases [ 11 , 12 ].…”

Sternocostoclavicular Hyperostosis: Positive Clinical and Radiological Response on Pamidronate

“…SCCH is a rare inflammatory bone disorder, of which the precise underlying mechanisms remain yet to be determined. Low awareness among physicians, consequent diagnostic and therapeutic delay, and associated decreased quality of life and psychological wellbeing of patients, all contribute to a challenging care process ( 5 , 17 ).…”

“…Structural change, however, is commonly progressive, developing from enthesopathy of the costoclavicular ligament with erosion and increased bone turnover, into increased local sclerosis, followed by further hyperostosis and involvement of soft tissue. The latter often results in continuous pain due to secondary degenerative changes, altogether leading to further disease burden and impaired quality of life ( 5 , 17 , 21 ). In our two cases, we observed a local reduction in bone turnover on scintigraphy in both, with persistent sclerosis in the first, and, remarkably, resolution of sclerosis in the second.…”

Understanding self-management behaviors in symptomatic adults with uncertain etiology using an illness perceptions framework

“…These individuals often face misdiagnosis, diagnostic delay, and uncertainty in treatment options (Nettleton et al, 2005; The Lancet, 2009; van der Kloot et al, 2010). Research reveals that these factors contribute to extensive testing and consultations with specialists.…”