Download PDFPDF
Original research
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study
Compose Response

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g.
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Statement of Competing Interests


  • A rapid response is a moderated but not peer reviewed online response to a published article in a BMJ journal; it will not receive a DOI and will not be indexed unless it is also republished as a Letter, Correspondence or as other content. Find out more about rapid responses.
  • We intend to post all responses which are approved by the Editor, within 14 days (BMJ Journals) or 24 hours (The BMJ), however timeframes cannot be guaranteed. Responses must comply with our requirements and should contribute substantially to the topic, but it is at our absolute discretion whether we publish a response, and we reserve the right to edit or remove responses before and after publication and also republish some or all in other BMJ publications, including third party local editions in other countries and languages
  • Our requirements are stated in our rapid response terms and conditions and must be read. These include ensuring that: i) you do not include any illustrative content including tables and graphs, ii) you do not include any information that includes specifics about any patients,iii) you do not include any original data, unless it has already been published in a peer reviewed journal and you have included a reference, iv) your response is lawful, not defamatory, original and accurate, v) you declare any competing interests, vi) you understand that your name and other personal details set out in our rapid response terms and conditions will be published with any responses we publish and vii) you understand that once a response is published, we may continue to publish your response and/or edit or remove it in the future.
  • By submitting this rapid response you are agreeing to our terms and conditions for rapid responses and understand that your personal data will be processed in accordance with those terms and our privacy notice.
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

Other responses

Jump to comment:

  • Published on:
    • Anne Marie Jelsig, MD, Ph.D Dpt, of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

    To Angela E. Lin, medical geneticist, Mass General for Children (Massachusetts General Hospital. Thank you for your interest in our publication.
    We agree, as we mention as part of our conclusion, that surveillance regarding aorthopathy in JP-HHT is important. Danish patients with JP-HHT are systematically recommended cardiovascular assessment, including echocardiogram, in addition to HHT-and GI-surveillance.

    Conflict of Interest:
    None declared.
  • Published on:
    Expanding the phenotype of SMAD4-HHT: Connective tissue abnormalities and severe cardiovascular disease
    • Angela E. Lin, medical geneticist Mass General for Children (Massachusetts General Hospital)

    We applaud the Danish registry's wonderful contribution to the field of SMAD4-HHT research. We would like to alert readers to our recent review of 19 individuals (one new) about the connective tissue features, and severe aortic and valvar disease (Gheewalla et al., 2022). In addition, we called attention to the opposing phenotypes of SMAD4-HHT and SMAD4-Myhre syndrome as a result of loss-of-function and gain-of-function pathogenic variants, respectively. The nearly simultaneous publication of our paper would have prevented inclusion in this current article.
    REFERENCE: Gheewalla, G. M., Luther, J., Das, S., Kreher, J. B., Scimone, E. R., Wong, A. W., Lindsay, M. E., & Lin, A. E. (2022). An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. American journal of medical genetics. Part A, 10.1002/ajmg.a.62915. Advance online publication.

    Conflict of Interest:
    None declared.