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Besonderheiten in Diagnostik und Therapie des hereditären primären Hyperparathyreoidismus

Special features of the diagnostics and treatment of hereditary primary hyperparathyroidism

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Zusammenfassung

Die hereditären Formen des primären Hyperparathyreoidismus (hpHPT) werden bei 2–10 % aller Patient:innen mit primärem Hyperparathyreoidismus (pHPT) diagnostiziert. Sie treten vermehrt bei jüngeren Patienten vor dem 40. Lebensjahr, bei Persistenz und Rezidiven des pHPT und bei pHPT-Patient:innen mit einer Mehrdrüsenerkrankungen („multi-glandular disease“, MGD) auf. Die unterschiedlichen hpHPT-Erkrankungen können in vier syndromale (hPHPT verbunden mit Erkrankung andere Organsysteme) und vier nur auf die Nebenschilddrüsen begrenzte Erkrankungen eingeteilt werden. Etwa 40 % der hpHPT-Patient:innen leiden an einer multiplen endokrinen Neoplasie Typ 1 (MEN-1) oder weisen eine Keimbahnmutation des MEN-1-Gens auf. Insgesamt sind heute Keimbahnmutationen auf 13 unterschiedlichen Genen für hpHPT-Patient:innen nachgewiesen, die eine eindeutige Diagnose der Erkrankung ermöglichen. Eine klare Genotyp-Phänotyp-Korrelation besteht jedoch nicht, wenn auch der völlige Ausfall eines kodierten Proteins (z. B. „calcium sensing receptor“ durch Frame-shift-Mutationen) oft eine stärkere klinische Auswirkung zeigt als die nur verminderte Funktion desselben (z. B. durch Punkmutation). Da die verschiedenen hpHPT-Erkrankungen unterschiedliches therapeutisches Vorgehen verlangen, welches nicht der des sporadischen pHPT entspricht, ist die klare Definition der spezifischen hpHPT-Erkrankung immer anzustreben. Damit ist vor der Operation eines pHPT mit klinischem, biochemischem oder bildgebendem Verdacht auf einen hpHPT der genetische Nachweis oder Ausschluss des hpHPT erforderlich. Nur anhand der Klinik und der Ergebnisse aller o. g. Befunde lässt sich das differenzierte therapeutische Vorgehen beim hpHPT definieren.

Abstract

Between 2% and 10% of patients with primary hyperparathyroidism (pHPT) are diagnosed with hereditary forms of primary hyperparathyroidism (hpHPT). They are more prevalent in younger patients before the age of 40 years, in patients with persistence or recurrence of pHPT and pHPT patients with multi-glandular disease (MGD). The various forms of hpHPT diseases can be classified into four syndromes, i.e., hpHPT associated with diseases of other organ systems, and four diseases that are confined to the parathyroid glands. Approximately 40% of patients with hpHPT suffer from multiple endocrine neoplasia type 1 (MEN-1) or show germline mutations of the MEN‑1 gene. Currently, germline mutations that lead to a specific diagnosis in patients with hpHPT have currently been described in 13 different genes, which enables a clear diagnosis of the disease; however, a clear genotype-phenotype correlation does not exist, even though the complete loss of a coded protein (e.g. due to frame-shift mutations in the calcium sensing receptor, CASR) often leads to more severe clinical consequences than merely a reduced function of the protein (e.g. due to point mutation). As the various hpHPT diseases require different treatment approaches, which do not correspond to that of sporadic pHPT, a clear definition of the specific form of hpHPT must always be strived for. Therefore, before surgery of a pHPT with clinical, imaging or biochemical suspicion of hpHPT, genetic proof or exclusion of hpHPT is necessary. The differentiated treatment approach for hpHTP can only be defined by taking the clinical and diagnostic results of all the abovenamed findings into account.

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  1. Chirurgische Klinik, Charité Campus Mitte/Campus Virchow-Klinikum, Berlin, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt-Universität zu Berlin, Charitéplatz 1, 10117, Berlin, Deutschland

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Correspondence to Martina T. Mogl.

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M.T. Mogl und F.P.E. Goretzki geben an, dass kein Interessenkonflikt besteht.

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Mogl, M.T., Goretzki, P.E. Besonderheiten in Diagnostik und Therapie des hereditären primären Hyperparathyreoidismus. Chirurgie 94, 586–594 (2023). https://doi.org/10.1007/s00104-023-01897-8

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