From January 26 to 28, the Aula Magna of the Luigi Einaudi University Campus in Turin hosted the usual annual meeting on autoimmune diseases and rare and orphan diseases organized by Professor Dario Roccatello, which always includes a session entirely dedicated to Lymphedema and Lipedema. On the sidelines of the meeting, on the morning of Saturday, January 28, Elodie Stasi brought together patients, health professionals, and patient associations at a room of the Hotel Genova to discuss some of the aspects of Primary Lymphedema. In addition to several patients and the President of the Lymphido Association, this meeting included Christine Moffat, Isabelle Queré, Jean Paul Belgrado, Francesco Boccardo, Marina Cestari, and Sandro Michelini. After some considerations of psychological interest concerning both patients and family members, some of the problems related to the primary disease emerged, such as the possibility of transmission of the disease to more than one child, the management of chronic physical treatment, problems related to genital localization, both male and female, and the problems of performing and interpreting the lymphoscintigraphic examination for which we are still far from standardization.
A very interesting experience that saw active participation of the entire room in the various discussions. In particular, the writer, regarding the incidence of transmission of the disease pointed out that the truly familial forms are about 5% and this corresponds, in clinical practice, to the impossibility of transmission of the primary form of Lymphedema to offspring in more than 90% of cases. And in relation to the ‘guilt’ that some parents (lymphedema carriers) had feared toward their affected children (a problem that had already emerged in a discussion during a Campus at Candia Canavese) it was pointed out that lymphedema constitutes only one ‘different ability’ among the many abilities a person has: and in this regard the comparison with Beethoven’s parents who, if they had not conceived a ‘deaf’ son, as he did, would have deprived us of the wonderful nine symphonies, returns, testifying that the potential in the active life of every living being is linked to many factors and none of the seemingly negative aspects can deny him to extrinsicate himself in his best aspects.
There were then alternating presentations by Boccardo (all ‘arm-in-arm’ as part of the collegial discussion) on the opportunities that surgery offers in individual clinical cases, by Isabelle Queré on the management of pediatric forms and the relationship with care givers, Marina Cestari who outlined some aspects related to information and health education of patients and families, Belgrade who highlighted the additional diagnostic opportunities offered by dynamic videofluoroscopic examination, and Christine Moffat who further reinforced the concept of family information, especially in pediatric Lymphedema cases. All of this was over a very knowledgeable ‘essential’ set list of slides that carried anatomy and clinical information, prepared in an extremely informative and practical manner by Elodie Stasi.
In the afternoon, we moved to the University Campus for the session ‘Key topics in Lymphology and primary Lymphoedema,’ moderated by the writer and Elodie Stasi, in which the speakers on the lineup again took turns, in front of a copious interested audience, including the undersigned who presented the latest on the management of primary Lymphoedema and Lipedema, illustrating some of the ongoing studies for the recognition of new germline and somatic mutations in primary forms of Lymphedema and an experimental study, still in progress, addressed to anatomo-pathological, genetic and functional (RNA) aspects related to Lipedema , with new interesting non-invasive diagnostic and therapeutic perspectives.
Francesco Boccardo then highlighted some technical and related aspects of the ‘timing’ of the operative act in primary forms of Lymphedema. Marina Cestari illustrated the instrumental diagnostic pathway in primary forms that cannot disregard, regardless of the patient’s age, lymphoscintigraphic examination. Belgrade then showed suggestive videofluoroscopy films in some clinical cases.
Christine Moffat emphasized some aspects related to the quality of life of the patient with Primary Lymphedema, a condition that has to be lived with, regardless of the various stages of treatment, throughout life. Isabelle Queré explained how to categorize the groups of Primary Lymphedema from a genetic point of view into various subgroups, mentioning once again how important genetic testing is to know the type of mutation that, in addition to lymphedema per se, can also lead to problems in other organs and systems. Elodie Stasi then highlighted aspects of a study she is conducting to try to systematize the diagnostic moment with a harmonious synthesis and proper use of the instrumental methods available in individual cases. He then closed Roccatello with a presentation on the Lymphatic System in the Kidney confirming that in chronic renal failure the local lymphatic system is also impaired in its function contributing to organ failure. He then closed the proceedings thanking all present also for the quality level of the reports and giving appointment for next year.