Orphanet J Rare Dis
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Orphanet J Rare Dis · Jan 2021
The patient journey toward a diagnosis of hereditary transthyretin (ATTRv) amyloidosis.
Despite emerging treatments for hereditary transthyretin (ATTRv) amyloidosis, the disease is often misdiagnosed, with reported diagnostic delays of up to several years. Knowledge of the patient journey leading up to diagnosis may help to promote earlier intervention. The study's objective was to examine patient clinical characteristics and healthcare utilization prior to ATTRv amyloidosis diagnosis. ⋯ Patients with ATTRv amyloidosis experience multiple neurological, cardiovascular, and other clinical manifestations, testing, and hospitalization prior to diagnosis. Occurrence of potential markers of illness is most common in the year before diagnosis.
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Orphanet J Rare Dis · Dec 2020
LetterDiagnostic testing for SARS-CoV-2 infection in HHT patients: nasopharyngeal versus oropharyngeal swab.
On March 11, 2020, WHO has defined the novel coronavirus disease SARS-CoV-2 (COVID-19) outbreak as a pandemic that still today continues to affect much of the world. Among the reasons for the rapid spread of SARS-CoV-2 infection, there is the role of asymptomatic or minimally symptomatic carriers. Therefore diagnostic testing is central to contain the global pandemic. ⋯ In HHT patients undergoing a diagnostic test to evaluate the SARS-CoV-2 infection status, especially in those patients with frequent epistaxis with a history of anemia and repeated hospitalizations, it is therefore advisable to perform an oropharyngeal swab. This, compared to the nasopharyngeal swab, exposes to a lower risk of severe nosebleeds related treatments, such as blood transfusions or invasive procedures. According to the risk-benefit assessment and based on our experience, we consider that, despite a lower diagnostic sensitivity, oropharyngeal swab is preferable to nasopharyngeal swab for the diagnosis of SARS CoV-2 infection in patients with HHT.
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Orphanet J Rare Dis · Nov 2020
A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland.
To ascertain the number of paediatric deaths (0-14 years) with an underlying rare disease in the Republic of Ireland between the years 2006-2016, and to analyse bed usage by a paediatric cohort of rare disease inpatients prior to in-hospital death. ⋯ Additional routine rare disease coding is necessary to identify rare diseases within Irish healthcare systems to enable better healthcare planning. Rare disease patients are overrepresented in paediatric mortality statistics and in-patient length of stay during hospital admission prior to death.
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Orphanet J Rare Dis · Sep 2020
Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.
An amendment to this paper has been published and can be accessed via the original article.
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Orphanet J Rare Dis · Aug 2020
A novel prognostic model for adult patients with Hemophagocytic Lymphohistiocytosis.
Hemophagocytic Lymphohistiocytosis (HLH) is a type of rare disease with low survival rate. We aimed to develop a model to evaluate the six-month prognosis in adult HLH patients. The data at discharge (will be called as post-treatment) for newly diagnosed adult HLH patients was collected and independent prognostic variables were selected for inclusion in the model. ⋯ These results point out that serum ferritin, platelets and ALT levels are independent elements of OS in adult patients with HLH, and that the proposed model have a better prognostic value than any of these markers alone.