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We report the case of a 27-year-old man with transthyretin amyloidosis secondary to the p.Val142Ile mutation with an atypical clinical presentation of predominantly lower limb polyneuropathy without cardiac involvement. p.Val142Ile is mainly associated with cardiopathy, whereas the neuropathic phenotype is mainly associated with p.Val50Met. Our patient belongs to a non-endemic region and due to his lack of support network a possible familial component is unknown. His case represents a diagnostic challenge given the wide heterogeneity of clinical manifestations associated with the disease, with other possible diagnoses of polyneuropathy being reasonably excluded according to prevalence and frequency. The particularly unusual genotype-phenotype association distinguishes this case from the classic description of transthyretin amyloidosis secondary to p.Val142Ile.

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Background: Aortic diseases in some orphan rheumatological diseases require medical, surgical or peripheral endovascular intervention because they can be catastrophic. Objectives: to analyze the main clinical and epidemiological characteristics of patients with Takayasu arteritis (TA), Marfan syndrome (MS) and similar conditions that were treated with cardiothoracic surgery and peripheral endovascular intervention. Methods: Retrospective and descriptive cohort study that included patients of any age and gender with TA (as per the criteria of the American College of Rheumatology and EULAR/PRINTO), MS (according to Ghent criteria), and similar conditions who underwent cardiothoracic surgery or peripheral endovascular intervention. Data were collected from electronic charts. Results: A total of 77 patients with TA and 135 patients with MS and similar conditions were included. The frequency of surgical or interventional requirements in patients with TA and MS/similar conditions was 77/364 (21.2%) and 135/300 (45%), respectively; such patients were followed for a median of 6 [2-12] and 3.29 (0.42-6.62) years, with (maximum follow-up range of 47 and 21.37 years, respectively). Aneurysms were present in 11 (14.3%) and 66 (48.9%) in patients with TA and MS/similar conditions, respectively. Aortic, mitral and tricuspid valve damage occurred in 8 (10.4%) patients, 4 (5.2%) patients and 1 (1.3%) patient with TA, respectively; corresponding frequencies in patients with MS/similar conditions were 98 (72.6%), 50 (37.0%) and 20 (14.8%). We identified that 20% of patients with TA died after 5.08 years (95% CI: 0.23-25.42 years) and 20 % of the patients with MS and other similar conditions died after 7.52 years (95% CI: 1.10-9.02 years). Conclusions: The frequency of surgical intervention was low in this study. Long-term prognosis is good if surgery is performed in a timely manner. Epidemiological studies provide relevant information for public health decisions related to the management of orphan rheumatological diseases.

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Resumen Introducción: la fibrosis pulmonar idiopática (FPI) es una enfermedad pulmonar intersticial (EPID) de mal pronóstico, considerada huérfana en Colombia. Un diagnóstico correcto tiene implicaciones para el paciente y los costos de atención. Los grupos de discusión multidisciplinaria (GDM) se consideran el estándar de oro en el diagnóstico. No hay estudios previos en Colombia de la experiencia de un GDM. Objetivos: evaluar el impacto de un GDM en una institución de cuarto nivel en Bogotá en cambio de diagnóstico de pacientes con EPID y la concordancia entre el diagnóstico inicial y final de FPI. Material y métodos: pacientes con EPID evaluados entre 2015-2018 por el GDM conformado por neumólogos, radiólogo, patólogo y reumatólogos. Criterios ATS/ERS/JRS/ALAT de diagnóstico de FPI. Descripción del cambio en el diagnóstico y concordancia entre el diagnóstico inicial y del GDM en FPI. Resultados: de 165 pacientes con EPID se cambió el diagnóstico en 35.2%. En 77.3% pacientes con diagnóstico inicial de FPI y en 6.7% con diagnóstico inicial diferente a FPI el GDM confirmó FPI. Al descartar FPI, los principales diagnósticos fueron neumonitis de hipersensibilidad en fase crónica (29.4%) y neumonía intersticial no específica (23.5%). El índice kappa entre el diagnóstico inicial y final de FPI fue 0.71 (0.60-0.82). Conclusiones: el GDM en EPID tuvo un importante impacto clínico demostrado por un alto porcentaje de cambió del diagnóstico de remisión. Se descartó el diagnóstico inicial de FPI en un porcentaje significativo de pacientes y se ratificó en un grupo menor sin esta sospecha clínica inicial. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2017).

Abstract Introduction: idiopathic pulmonary fibrosis (IPF) is an interstitial lung disease (ILD) with a poor prognosis, considered an orphan disease in Colombia. An accurate diagnosis has implications for the patient and healthcare costs. Multidisciplinary discussion groups (MDGs) are considered the gold standard for diagnosis. There are no prior studies in Colombia on the experience of an MDG. Objectives: to evaluate the impact of an MDG in a quaternary care institution in Bogotá on the change in the diagnosis of patients with ILD and the concordance between the initial and final diagnosis of IPF. Materials and methods: patents with ILD evaluated from 2015-2018 by the MDG made up of pulmonologists, a radiologist, a pathologist and rheumatologists. The ATS/ERS/JRS/ALAT diagnostic criteria for IPF. A description of changes in the diagnosis and the agreement between the initial diagnosis and the MDG diagnosis of IPF. Results: out of 165 patients with ILD, the diagnosis was changed in 32.5%. The MDG confirmed IPF in 77.3% of patients with an initial diagnosis of ILD and 6.7% of those with a different initial diagnosis. When IPF was ruled out, the main diagnoses were chronic hypersensitivity pneumonitis (24.8%) and nonspecific interstitial pneumonia (23.5%). The Kappa index between the initial and final IPF diagnoses was 0.71 (0.60-0.82). Conclusions: the MDG on ILD had a significant clinical impact evidenced by a high percentage of change in the referral diagnosis. The initial diagnosis of IPF was ruled out in a significant percentage of patients and confirmed in a smaller group which did not have this initial clinical suspicion. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2017).

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Resumen En este reporte se llama la atención de los colegas ante la posibilidad de encontrar un caso de enfermedad de Fabry entre múltiples pacientes que consultan. Se exponen las condiciones clínicas de estos pacientes que los hacen únicos, a causa de una enfermedad huérfana. Es posible que muchas de estas condiciones clínicas hayan pasado inadvertidas y al no tenerlas presentes no se tenga un grado de sospecha que lleve al diagnóstico.

Abstract In this report is call the attention of our colleagues the possibility of finding a case of Fabry's disease within the multitude of patients in our practice. It is expose the clinical conditions of these patients which make them unique, due to a disease denominated as orphan. It is possible that many of these clinical conditions have gone unnoticed and by not having them present prevent/impide us from having a high degree of suspicion which would lead to a diagnosis.

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Background: Movement disorders are often a prominent part of the phenotype of many neurologic rare diseases. In order to promote awareness and diagnosis of these rare diseases, the International Parkinson's and Movement Disorders Society Rare Movement Disorders Study Group provides updates on rare movement disorders. Methods: In this narrative review, we discuss the differential diagnosis of the rare disorders that can cause chorea. Results: Although the most common causes of chorea are hereditary, it is critical to identify acquired or symptomatic choreas since these are potentially treatable conditions. Disorders of metabolism and mitochondrial cytopathies can also be associated with chorea. Discussion: The present review discusses clues to the diagnosis of chorea of various etiologies. Authors propose algorithms to help the clinician in the diagnosis of these rare disorders.

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En esta investigación se preguntó por la vida cotidiana de las personas con Enfermedad de Huntington (EH), una enfermedad genética, neurodegenerativa que se desarrolla en la vida adulta joven y que se caracteriza por la triada de alteraciones de la conducta, motoras y cognitivas, lleva a la muerte en un proceso crónico de 10 a 20 años y aún no existe para ella tratamiento curativo, es considerada enfermedad huérfana debido a que se presenta en menos de 1 en 5000 personas en Colombia. El objetivo fue comprender cómo viven la vida cotidiana las personas con dicha enfermedad. Se utilizó como referente metodológico el paradigma comprensivo, siguiente los postulados de la teoría fundamentada de Strauss y Corbin. Los datos se construyeron a partir de entrevistas semiestructuradas y en conversación informal, en visita familiar a personas afectadas o a riesgo, es decir, hijos de las afectadas. Fueron 33 participantes de diferentes regiones del país, como Bogotá, Medellín, Santa Marta y Chocó y principalmente Juan de Acostas en el Atlántico paradigmático por ser la segunda región del mundo con mayor número de afectados después de Venezuela; se complementó la información con entrevistas a familiares, cuidadores, líderes de asociaciones y personas expertas en el tema; se realizó revisión documental, observación participante y se elaboró diario de campo. El análisis y la recolección fueron concurrentes, se hicieron preguntas y comparaciones a los datos, de donde surgió la categoría central perderse de sí mismo hasta la muerte, para explicar la vida cotidiana de las personas con EH a partir de un esquema explicativo que se compone de cuatro categorías, el contexto que involucra las subcategorías el micro-contexto de las regiones, el sistema de salud, la situación económica y las intervenciones del estado y las asociaciones y fundaciones; la otra categoría tiene que ver con perderse de sí mismo, se compone de las subcategorías: lo que sabíamos de la enfermedad, reconocerse a riesgo, no darse cuenta, tener consciencia de la enfermedad, los cambios y las pérdidas; la dependencia y la pérdida del yo hasta la muerte y las consecuencias para los que cuidan. La otra categoría fue nombrada las relaciones de amores y amarguras apoyos y desafíos que se compone de los arreglos familiares, las relaciones difíciles distantes y dolorosas y las relaciones con los amigos y vecinos y la cuarta categoría, la vida cotidiana que se compone de organizar el tiempo, las mismas rutinas, el cuidado y la muerte. Las personas desarrollan la vida en un contexto de pobreza y precariedad, la cual se incrementa con la enfermedad que los empobrece más, al perder el empleo los pocos que lo tenían de manera formal, no logran la pensión de invalidez y la enfermedad incrementa los gastos con nuevas necesidades. La relación con el sistema de salud es difícil y no se compadece con la legislación que existe en nuestro Estado social de derecho; frente a estas condiciones en algunas regiones existen recursos del Estado para atender a aquellos que llegan a la vulnerabilidad psicosocial y desafiliación como la condición de calle. Las asociaciones y fundaciones emprenden acciones que no logran ser suficientes en medio de tanta precariedad. En esta complejidad de pobreza y enfermedad, las relaciones familiares aunque en muchos casos se des-configuran hasta el abandono, en otras se reconfiguran en arreglos familiares y apoyos solidarios en los que se comparte la pobreza. Las alteraciones de la salud mental de los afectados son un desafío para la convivencia. Cuando inician los síntomas muchos de los afectados no se dan cuenta de ello, lo que dificulta la atención y los pone en riesgo, al igual que a otros por su quehacer en la vida cotidiana. La enfermedad pasa por un proceso de cambios, pérdidas y deterioro tanto del cuerpo como de la mente, que además de llevar a la pérdida del yo, estigmatiza, sobre todo por los movimientos y las alteraciones de la conducta. Las personas van perdiendo lo que eran hasta llegar a requerir de un cuidador del cual llegan a ser dependientes al perder entre tantas otras cosas, el lenguaje, la deglución y la movilidad. En esta condición de cautiverio en su propio ser sin salida, se estructuró de los datos la teoría sustantiva sobre la vida cotidiana de las personas con enfermedad de Huntington: La inversión del mito de la caverna, de la alegoría de Platón que expresa que los habitantes de la caverna nacieron prisioneros y solo podían ver las sombras reflejadas por la hoguera en la pared; las personas afectadas por la EH, nacieron libres, al iniciar la enfermedad ingresan a la caverna, la cual los limita, los encoge, los reduce, los deja prisioneros en su propio cuerpo y del exterior solo tienen las sombras, los recuerdos. No hay salida de la caverna, la salida es la muerte. Conclusión: La vida de las personas con EH es de gran adversidad y precariedad, presentan necesidades especiales con relación a la población general por lo que su intervención, por la complejidad, requiere atención interdisciplinaria e intersectorial en la cual el cuidado de enfermería tiene importancia para ofrecer educación y liderar programas en todos los niveles de prevención. Las acciones de cuidado requieren enfermeros competentes con estructura en los patrones de conocimiento de Carper: empírico, personal, ético, estético y los de Chinn y Kramer sociopolítico y emancipatorio. (AU)

This research examined about people with Huntington's Disease daily life (HD), is a genetic, neurodegenerative disease that develops in young adult life and is characterized by triad alteration from behavioral, motor and cognitive disorders, It leads to death in a chronic process from 10 to 20 years and there is not curative treatment for it yet, it is considered an orphan disease because it occurs in less than 1 in 5000 people in Colombia. Its objective was to understand daily life from those people with this disease. A comprehensive paradigm was used as a methodological reference, following Strauss and Corbin's e postulates from grounded theory Data were constructed from semi-structured interviews and in informal conversation, in family visits to affected or at-risk people, that is, children of those affected. There were 33 participants from different regions of our country, such as Bogotá, Medellin, Santa Marta and Chocó and mainly Juan de Acosta in the Atlantic, paradigmatic for the reason that it is the second region in the world with the highest number of affected people after Venezuela; the information was complemented with interviews with family members, caregivers, association leaders and experts in this subject; Documentary review, participant observation and field diary was prepared. The analysis and collection were concurrent, questions and comparisons were made to the data, from which the central category arose from losing itself to death, to explain the daily life of people with HD from an explanatory scheme that is composed of four categories, the context involves the subcategories micro-context from regions, health system, the economic situation and the state's interventions and the associations and foundations; the other category has to do with losing oneself, it is made up by subcategories: what we knew about the disease, recognizing oneself at risk, not realizing it, being aware of the disease, changes and losses; dependence and loss of self until death and them consequences for those who care. The other category about family relationship was named the relationships of love and bitterness, supports and challenges that is made up, difficult distant and painful relationships and relationships with friends and neighbors and the fourth category, the daily life that is made up of organizing the time, the same routines, care and death. Due to poverty and precariousness's context in which people develop their life, it increases with this disease that impoverishes them, moreover, when they lost their employment: the few who had it formally lose their jobs, they do not obtain a disability benefits and the disease increases expenses with new essentials. Their relationship with the health system is difficult and does not concordance with our legislation that exists in our law at social state level; In the face of these conditions in some regions there are some resources from our state to meet those who reach psychosocial vulnerability and disaffiliation as the street condition. The associations and foundations undertake actions that cannot be enough in the midst of such precariousness. In this complexity of poverty and disease, family relationships, although in many cases they are family breakdown until abandonment, in others they are reconfigured into family arrangements and solidarity support in which poverty is shared. Mental health alterations from those suffered are challenge for a peaceable living. When those symptoms begin many of those affected do not realize it, which makes attention difficult and puts them at risk, as well as others for their daily life's work the disease goes through a process of changes, losses and deterioration of both the body and the mind, which in addition to leading to the loss of the self, stigmatizes, especially the movements and alterations of behavior. People lose what they were until they came to require a caregiver that they become dependent upon losing, among many other things, language, swallowing and mobility. In this captivity condition in his/her own dead-end being, the substantive theory about the daily life of people with Huntington's disease was structured from data: Cave myth, inversion is a Plato's allegory that expresses that the inhabitants Prisoners were born from the cave and could only see the shadows reflected by the fire on the wall; people affected by HD, were born free, at the beginning of the disease they enter into a cave, which limits them, shrinks them, reduces them, leaves them prisoners in their own bodies and from the outside they only have shadows, memories. There is no exit from this cave, his/her exit is death. Conclusion: Daily life from people with HD is of great adversity and precariousness, they have special essentials in relation to general population, so their intervention, due to the complexity, requires interdisciplinary and intersectoral assistance in which nursing care is important for offer education and lead programs at all levels of prevention and include palliative care at the end of life. Care actions require competent nurses with structure in Carper's knowledge patterns: empirical, personal, ethical, aesthetic and those of socio-political and emancipatory Chinn and Kramer. (AU)

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Introduction: Orphan diseases are low-prevalence conditions with chronically debilitating or life-threatening consequences. Their treatments are generally called orphan drugs (OD). Health-technology assessment processes have traditionally considered cost-effectiveness analysis (CEA), when making reimbursement and pricing decisions for health-care plans. Valuing OD with standard CEA raises important issues due to uncertain evidence, inability to meet cost-effectiveness thresholds for reimbursement and high budget impact, among others. Multi-criteria decision analysis (MCDA) allows to overcome these issues and improve the technical and ethical quality of decisions regarding prioritization, coverage, and reimbursement of OD. Areas covered: A scoping review was conducted in order to characterize MCDA frameworks for assessing OD and implementation experiences. We reviewed electronic databases (Medline, Embase, Cochrane Library, EBSCO, CINAHL, EconLit, Web of Science, LILACS, Google Scholar) key journals (Orphanet Journal of Rare Diseases and Value in Health) and organization repositories. Expert opinion: The theoretical framework for MCDA considers areas related to characteristics of orphan diseases and their technologies' clinical and economic impact. Participation processes are critical in incorporating societal values in weighting different dimensions and constructing decision rules. Local implementation pilots considering different stakeholders are necessary in order to pinpoint specific barriers and opportunities.

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OBJECTIVES: To report the efficacy of Human Botulism Immune Globulin Intravenous (BIG-IV) in the first 12 years following its licensure in 2003 and to characterize its use nationwide in treating patients with infant botulism. STUDY DESIGN: Medical records and billing information were collected for US patients treated with BIG-IV from 2003 to 2015. Length of hospital stay (LOS) and hospital charge information for treated patients were compared with the BIG-IV Pivotal Clinical Trial Placebo Group to quantify decreases in LOS and hospital charges. RESULTS: The use of BIG-IV reduced mean LOS from 5.7 to 2.2 weeks. This shortened hospital stay resulted in a mean decrease in hospital charges of $88 900 per patient. For all US patients 2003-2015, total decreases in LOS and hospital charges were 66.9 years and $86.2 million, respectively. The decrease in mean LOS was time dependent: BIG-IV treatment on hospital days 0-3 reduced mean LOS by 3.7 weeks (P <.001 vs the BIG-IV Pivotal Clinical Trial Placebo Group), on hospital days 4-7 by 2.6 weeks (P <.001 vs the BIG-IV Pivotal Clinical Trial Placebo Group) and on hospital days 8-10 by just 1 week (P = NS). Since licensure, 1192 patients in 48 states and Washington, DC, have been treated with BIG-IV. CONCLUSIONS: The use of BIG-IV since its licensure in 2003 treated approximately 93% of US patients with laboratory-confirmed infant botulism, and prevented >65 years in hospital stay and >$85 million in hospital charges from occurring. The greatest LOS reduction was achieved when BIG-IV was administered soon after hospital admission. Effective and appropriate use of BIG-IV in the US has continued in the postlicensure period.

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Introduction Mucopolysaccharidosis (MPS) are infrequent deposit diseases; generally, the diagnosis is delayed until symptoms appear. Age or presentation is related to the severity of the disease. A substantial number of patients are misdiagnosed since they describe nonspecific initial symptoms and signs in common. The aim of this study is to describe the common characteristics of patients with mucopolysaccharidosis already diagnosed, treated in hospitals of the Guanajuato Health System, with a special focus on early manifestations in order to review early clinical suspect manifestations. Methods A multicenter, descriptive, observational study was conducted to evaluate the cases of mucopolysaccharidosis treated and diagnosed. The study was carried out in the Pediatric departments of five big important hospitals of Bajio Mexico region in the period from February to August 2016. Results Eighteen patients were identified, 13 men and five women, with an average age of 8.6 years. The most frequent mucopolysaccharidosis was type IV A (Morquio) in seven patients, followed by type I (Hurler) in four patients, three patients for type III (San Filippo), two patients for type II (Hunter), and two patients for type VI (Maroteaux-Lamie). The commonest clinical manifestations at diagnosis were dimorphism, triangular dorsal hump, skeletal alterations (genu valgus, short stature, and flat feet), and a limited range of movement in the major joints. Non-skeletal manifestations, such as an umbilical/inguinal hernia and hepato-splenomegaly, were very frequent. In a majority of patients with mucopolysaccharidosis, the radiological data of the disease were found: they were most severe in type IV and type VI, mild in type I and II, and none in MPS III. A diagnosis was made in all patients by a clinical and radiological evaluation and confirmed by an enzymatic study. Conclusions In all rare diseases, a suspicion diagnosis is based on subtle characteristics that manifest themselves in a few different organs and systems may be mild. Suspicion by the physician and the need to strengthen collaboration patterns between different specialities play an important role in the early diagnosis and treatment of these conditions.

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OBJECTIVE: Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have not yet been created in South America, a continent having a population of ~ 415 million inhabitants. In Colombia ~ 3 million of patients are affected by rare diseases. The aim of the present study was to establish the first Colombian national registry for rare diseases. The registry was created after the establishment of laws promoting the development of clinical guidelines for diagnosis, management, census and registry of patients suffering rare diseases. RESULTS: In total, 13,215 patients were recorded in the Colombian registry. The survey reported 653 rare diseases. The most common diseases were congenital factor VIII deficiency (hemophilia A) (8.5%), myasthenia gravis (6.4%), von Willebrand disease (5.9%), short stature due to growth hormone qualitative anomaly (4.2%), bronchopulmonary dysplasia (3.9%) and cystic fibrosis (3.2%). Although, a marked under-reporting of cases was observed, some pathologies displayed similar behavior to that reported by other initiatives and databases. The data currently available in the registry provides a baseline for improvement regarding local and regional surveys and the start for better understanding rare diseases in Colombia.

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Mucopolysaccharidosis IV A, better known as Morquio-A syndrome, is a rare condition with severe skeletal and multiorgan involvement. Sometimes is not easy to differentiate from other skeletal dysplasias. Prior to definitive diagnosis, patients have been delayed or misdiagnosis due to lack of knowledge of local physicians about this disease. The aim of this study is to compare the age of onset of clinical manifestations, age of diagnosis, as seen by the parent or primary caregiver and compare this age with other population reports worldwide. Self-administered questionnaires were conducted to the primary caregiver of confirmed patients, collecting information about the onset of symptoms, age, previous diagnoses and biological variables (age, gender, sex). Data from 50 patients, 23 men and 27 women was obtained. Mean age at definitive diagnosis was 5.6 years, age at onset of signs or symptoms was 4.14 years starting with pigeon chest deformity, valgus knees at 4.5 years, stiff hands and increasing mobility of wrists to the 5.8 years, followed by limitation to lift shoulders to 7.1 years. In 78% of patients the diagnosis was by a geneticist. First and subsequent observed clinical changes were orthopedic, starting as early as 4.4 years as noted by parents. Rise of suspicious may delay 16 months' average to definitive diagnosis based on other multi-systemic findings. The most frequent specialist aid in diagnosis is a clinical geneticist followed by orthopedic surgeon. The diagnosis of Morquio-A disease in Mexico is as early as reports from other centers.

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BACKGROUND: There is no agreement on a single cutoff point or prevalence for regarding a given disease as rare. The concept of what is a rare headache disorder is even less clear and the spectrum from a very frequent, frequent, occasional to rare headache syndrome is yet to be established. OBJECTIVE: An attempt has been made to estimate the lifetime prevalence of each of the headache subtypes classified in the ICHD-II. METHOD: Using the ICHD-II, 199 different headache subtypes were identified. The following classification was made according to the estimated lifetime prevalence of each headache disorder: very frequent (prevalence >10%); frequent (between 1 and 10%); occasional (between 0.07 and 1%); and unusual or rare (<0.07%). RESULTS: One hundred and fifty-four of 199 (77%) were categorized as unusual headache disorders, 7/199 (4%) as very frequent, 9/199 (5%) as frequent, and 29/199 (15%) as occasional forms of headache disorder. CONCLUSION: The unusual headache syndromes do not appear to be as infrequent in clinical practice as has been generally believed. About three-fourths of the classified headache disorders found in the ICHD-II can be considered as rare. This narrative review article may be regarded as an introduction to the concept of unusual headaches and a proposed classification of all headaches (at least those listed in the ICHD-II).

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