McCune Albright Syndrome: Gastrointestinal Polyps and Platelet Dysfunction over 12 Years.


Journal

Hormone research in paediatrics
ISSN: 1663-2826
Titre abrégé: Horm Res Paediatr
Pays: Switzerland
ID NLM: 101525157

Informations de publication

Date de publication:
2020
Historique:
received: 27 01 2020
accepted: 24 03 2020
pubmed: 11 5 2020
medline: 20 4 2021
entrez: 11 5 2020
Statut: ppublish

Résumé

Gastrointestinal (GI) polyps with unknown malignant potential and a platelet storage pool deficiency that increases the risk of severe intraoperative and other types of bleeding have been identified in McCune-Albright syndrome (MAS). The natural course of these disorders has not been well characterized. The aim of this study was to report the follow-up of GI polyps and platelet dysfunction (PD) in a cohort of 28 patients with MAS. Twenty-eight patients with MAS (15 females) were included. Endoscopic screening for GI polyps was undertaken in 14 subjects and 19 were tested for PD. Six subjects (5 males) were diagnosed with GI polyps at a median age of 23 (range 15-43) years, and were monitored for a median period of 8 (range 4.5-11.5) years. At endoscopic follow-up, the 4 patients with hamartomatous polyps at first endoscopy had either normal findings (n = 2), or duodenal gastric metaplasia (n = 2). Two patients with caecal polyps were identified. Of 8 subjects with a platelet storage pool deficiency, 5 required transfusions during surgery, and subsequent platelet cover in 2 markedly reduced intraoperative blood loss. New polyps with uncertain malignant potential are diagnosed after long term follow-up in MAS. Platelet cover reduces the need for red blood cell transfusion during orthopaedic surgery and may be useful to reduce non-operative bleeding events. We recommend regular upper and lower endoscopy and screening for PD in all MAS patients.

Sections du résumé

BACKGROUND AND OBJECTIVE OBJECTIVE
Gastrointestinal (GI) polyps with unknown malignant potential and a platelet storage pool deficiency that increases the risk of severe intraoperative and other types of bleeding have been identified in McCune-Albright syndrome (MAS). The natural course of these disorders has not been well characterized. The aim of this study was to report the follow-up of GI polyps and platelet dysfunction (PD) in a cohort of 28 patients with MAS.
METHODS METHODS
Twenty-eight patients with MAS (15 females) were included. Endoscopic screening for GI polyps was undertaken in 14 subjects and 19 were tested for PD.
RESULTS RESULTS
Six subjects (5 males) were diagnosed with GI polyps at a median age of 23 (range 15-43) years, and were monitored for a median period of 8 (range 4.5-11.5) years. At endoscopic follow-up, the 4 patients with hamartomatous polyps at first endoscopy had either normal findings (n = 2), or duodenal gastric metaplasia (n = 2). Two patients with caecal polyps were identified. Of 8 subjects with a platelet storage pool deficiency, 5 required transfusions during surgery, and subsequent platelet cover in 2 markedly reduced intraoperative blood loss.
CONCLUSIONS CONCLUSIONS
New polyps with uncertain malignant potential are diagnosed after long term follow-up in MAS. Platelet cover reduces the need for red blood cell transfusion during orthopaedic surgery and may be useful to reduce non-operative bleeding events. We recommend regular upper and lower endoscopy and screening for PD in all MAS patients.

Identifiants

pubmed: 32388508
pii: 000507442
doi: 10.1159/000507442
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

40-45

Informations de copyright

© 2020 S. Karger AG, Basel.

Auteurs

Francisca Grob (F)

Division of Paediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile, fgrob@med.puc.cl.
Department of Endocrinology, The Royal Children's Hospital, Parkville, Victoria, Australia, fgrob@med.puc.cl.
Murdoch Children's Research Institute, Parkville, Victoria, Australia, fgrob@med.puc.cl.

Margaret Zacharin (M)

Department of Endocrinology, The Royal Children's Hospital, Parkville, Victoria, Australia.
Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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Classifications MeSH