Editorial
RiHHTa, a Spanish clinical registry as an example of networked multicentre activities for a rare disease
RiHHTa, un registro clínico español ejemplo de trabajo multicéntrico en red para una enfermedad rara
L.M. Botella
Centro de Investigaciones Biológicas, CSIC, Grupo U-707 CIBERER del ISCiii, Madrid, Spain
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Riera-Mestre, J.M. Mora Luján, R. Sanchez Martínez, M.A. Torralba Cabeza, J.L. Patier de la Peña, M.C. Juyol Rodrigo, D. Lopez Wolf, A. Ojeda Sosa, L. Monserrat, M. López Rodríguez" "autores" => array:11 [ 0 => array:2 [ "nombre" => "A." "apellidos" => "Riera-Mestre" ] 1 => array:2 [ "nombre" => "J.M." "apellidos" => "Mora Luján" ] 2 => array:2 [ "nombre" => "R." "apellidos" => "Sanchez Martínez" ] 3 => array:2 [ "nombre" => "M.A." "apellidos" => "Torralba Cabeza" ] 4 => array:2 [ "nombre" => "J.L." "apellidos" => "Patier de la Peña" ] 5 => array:2 [ "nombre" => "M.C." "apellidos" => "Juyol Rodrigo" ] 6 => array:2 [ "nombre" => "D." "apellidos" => "Lopez Wolf" ] 7 => array:2 [ "nombre" => "A." "apellidos" => "Ojeda Sosa" ] 8 => array:2 [ "nombre" => "L." "apellidos" => "Monserrat" ] 9 => array:2 [ "nombre" => "M." "apellidos" => "López Rodríguez" ] 10 => array:1 [ "colaborador" => "on behalf of the Researchers of the RiHHTa Registry" ] ] ] 1 => array:2 [ "autoresLista" => "" "autores" => array:1 [ 0 => array:1 [ "colaborador" => "Members of the RiHHTa Registry of the Working Group on Minority Diseases of the Spanish Society of Internal Medicine" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0014256518302212" "doi" => "10.1016/j.rce.2018.07.002" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0014256518302212?idApp=WRCEE" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2254887418301437?idApp=WRCEE" "url" => "/22548874/0000021800000009/v2_201811290638/S2254887418301437/v2_201811290638/en/main.assets" ] ] "en" => array:12 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Editorial</span>" "titulo" => "RiHHTa, a Spanish clinical registry as an example of networked multicentre activities for a rare disease" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "479" "paginaFinal" => "480" ] ] "autores" => array:1 [ 0 => array:3 [ "autoresLista" => "L.M. Botella" "autores" => array:1 [ 0 => array:3 [ "nombre" => "L.M." "apellidos" => "Botella" "email" => array:1 [ 0 => "cibluisa@cib.csic.es" ] ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Centro de Investigaciones Biológicas, CSIC, Grupo U-707 CIBERER del ISCiii, Madrid, Spain" "identificador" => "aff0005" ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "RiHHTa, un registro clínico español ejemplo de trabajo multicéntrico en red para una enfermedad rara" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">The publication of data from the Spanish clinical registry RiHHTa,<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> on hereditary hemorrhagic telangiectasia (HHT), by the Rare Diseases Group of the Spanish Society of Internal Medicine, is an important and useful milestone that deserves discussion. It is worth emphasizing the importance of this registry, given its coordinated multicenter efforts.</p><p id="par0010" class="elsevierStylePara elsevierViewall">HHT is a rare, multisystemic vascular dysplasia, with autosomal dominant inheritance, which progresses with epistaxis, telangiectasia and vascular invasion of internal organs (liver, lungs, brain and gastrointestinal tract). The physiological cause of HHT is the disappearance of the capillary bed, resulting in a direct arteriovenous connection. Genetically, mutations in the <span class="elsevierStyleItalic">Endoglin</span> and <span class="elsevierStyleItalic">ACVRL1/ALK1</span> genes cause the disease in 90% of cases, both of which are involved in the intracellular signaling of the transforming growth factor-beta superfamily.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">The disease can be diagnosed in adults by clinical criteria and by the Curaçao criteria,<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">3</span></a> which include epistaxis, telangiectasia, vascular invasion of internal organs and autosomal dominant inheritance. A genetic diagnosis is required for children and adolescents in whom telangiectasia is still not visible and whose families have an index case of known mutation.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Implementing registries is a necessary task for dealing with rare diseases. These registries collect cases of diseases that are dispersed and occur in insufficient numbers for proper understanding of the disease, thereby enabling the prescription of medical interventions.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Spain has various registries for rare diseases by autonomous community and at the national level, and there are registries for individual diseases at the national European and international level. However, these initiatives are no easy task. A registry on rare diseases as a group does not provide a clear benefit, beyond demographic data, when recording all rare diseases (more than 7000).</p><p id="par0030" class="elsevierStylePara elsevierViewall">Disease registries should be planned with a focused goal of achieving benefits for the patients. The data need to be kept completely anonymous and should only be consulted by authorized experts with passwords. RiHHTa is an example of a registry focused on patients with HHT and provides physicians with a dynamic source of knowledge for consultation. There are several reasons for this registry's unique importance.</p><p id="par0035" class="elsevierStylePara elsevierViewall">HHT is a fairly common disease among rare diseases, with a prevalence of approximately 1:5000.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">4–6</span></a> An HHT registry can therefore provide sufficient data on the disease's natural history, diagnosis, management and follow-up. As mentioned earlier in the article, an HHT registry can also provide data on unique conditions that require an in-depth understanding of HHT for treating patients with this disease, in circumstances not so rare in the general population, such as hypertension, thromboembolism, dental procedures and infections.</p><p id="par0040" class="elsevierStylePara elsevierViewall">The creation of the RiHHTa registry represents an example to follow, especially in rare diseases. The registry is the result of coordinated work among internal medicine physicians united by an interest in HHT. As with other multisystemic diseases, internal medicine specialists are the ideal physicians for coordinating HHT treatment by gathering the diagnostic tests from the various involved specialties, collecting and integrating the results, submitting a diagnosis, prescribing a treatment and scheduling the follow-up. It is worth emphasizing the RiHHTa registry's online multicenter coordination of a disease that, due to its multisystemic nature, requires multidisciplinary action at each point in the network.</p><p id="par0045" class="elsevierStylePara elsevierViewall">The RiHHTa registry, which in its first year collected data from 141 patients with HHT, provides us important information:<ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">-</span><p id="par0050" class="elsevierStylePara elsevierViewall">In Spain, the predominant HHT is type 2 and is caused by mutations in the <span class="elsevierStyleItalic">ACVRL1 (ALK1</span>) gene in 68.8% of cases compared with 31.2% of <span class="elsevierStyleItalic">endoglin</span> mutations. This characteristic has been found in other Mediterranean countries.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">7</span></a></p></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">-</span><p id="par0055" class="elsevierStylePara elsevierViewall">The mean age at HHT diagnosis is 42 years, which indicates a late diagnosis requiring radical improvement. A diagnosis as early as possible increases the patient's quality of life because it prevents or delays the development of symptoms that increase from childhood to the fourth decade of life.</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">-</span><p id="par0060" class="elsevierStylePara elsevierViewall">The most common and earliest disorder in HHT is epistaxis, which progresses with age and can become a severe problem by interfering with the patient's life. The latest disorder is gastrointestinal tract hemorrhage, which appears in the fifth or sixth decade of life. The onset of anemia not explained by epistaxis should be an alert symptom.</p></li><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">-</span><p id="par0065" class="elsevierStylePara elsevierViewall">Hepatic impairment is the most common of the visceral disorders and occurs in 95% of patients with type 2 HHT. In most cases, these hepatic disorders do not result in functional abnormalities, but patient follow-up is essential. Symptoms of heart failure can be due to hepatic fistulas.</p></li><li class="elsevierStyleListItem" id="lsti0025"><span class="elsevierStyleLabel">-</span><p id="par0070" class="elsevierStylePara elsevierViewall">Pulmonary fistulas are more common in patients with type 1 HHT, occur in 64% of cases of type 1 HHT and require early screening to prevent severe complications such as brain abscesses. The RiHHTa registry has data on 7 patients who experienced brain abscesses due to the presence of pulmonary fistulas, which were not detected with an early screening of the fistulas.</p></li><li class="elsevierStyleListItem" id="lsti0030"><span class="elsevierStyleLabel">-</span><p id="par0075" class="elsevierStylePara elsevierViewall">The correct method for detecting pulmonary fistulas is echocardiography with contrast passage and is essential for screening pulmonary fistulas and thereby preventing infectious abscesses. Patients without contrast passage or grade 1 passage do not require chest computed tomography angiography, thereby avoiding radiation exposure and the implementation of an unnecessary test. Echocardiography shows that these patients have no fistula or have single fistula that are small and nonembolizable.</p></li><li class="elsevierStyleListItem" id="lsti0035"><span class="elsevierStyleLabel">-</span><p id="par0080" class="elsevierStylePara elsevierViewall">Abdominal computed tomography angiography is highly useful for defining subtypes of hepatic vascular invasion and detecting extrahepatic vascular invasion.</p></li><li class="elsevierStyleListItem" id="lsti0040"><span class="elsevierStyleLabel">-</span><p id="par0085" class="elsevierStylePara elsevierViewall">In conclusion, the registry is an initiative of coordinated networked efforts to provide information for the better screening, treatment and follow-up of patients with HHT, including the complications that these patients might present.</p></li></ul></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Botella LM. RiHHTa, un registro clínico español ejemplo de trabajo multicéntrico en red para una enfermedad rara. Rev Clin Esp. 2018;218:479–480.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:7 [ 0 => array:3 [ "identificador" => "bib0040" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Registro Informatizado de la Telangiectasia Hemorrágica Hereditaria (Registro RiHHTa) en España: objetivos, métodos y resultados preliminares" "autores" => array:1 [ 0 => array:3 [ "colaboracion" => "for the RiHHTa Investigators of the Minoritary Diseases Working Group from the Spanish Society of Internal Medicine" "etal" => true "autores" => array:6 [ 0 => "A. Riera-Mestre" 1 => "J.M. Mora Lujána" 2 => "R. Sanchez Martínez" 3 => "M.A. Torralba Cabeza" 4 => "J.L. Patier de la Peña" 5 => "M.C. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2023 March | 3 | 4 | 7 |
| 2020 September | 0 | 1 | 1 |
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| 2018 November | 1 | 2 | 3 |
