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

Abstract

Background and 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 Mc-Cune-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: 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: 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 deficien-cy, 5 required transfusions during surgery, and subsequent platelet cover in 2 markedly reduced intraoperative blood loss. 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.

Severe Fibrous Dysplasia in McCune-Albright Syndrome: A Need for Continuous Surveillance

“…Gastrointestinal (GI) polyps are found in 43% of MAS patients. Regular follow-up is recommended as potential for malignant transformation over time is not currently known [2, 20]. The absence of malignant GI lesions in this autopsy is reassuring, although the patient was probably too young to be certain of benignity.…”

“…In addition, a platelet pool storage defect has been identified in some patients with MAS, possibly caused by constitutive activation of G protein-coupled receptors in the cell membrane of platelets, leading to intracellular increase in cAMP and inhibition of platelet aggregation [8]. The defect is characterized by increased ADP closure time in the presence of normal epinephrine closure time, but was known to be normal in this man [2]. In view of sudden SAH, evidence should be sought to confirm whether additional risk factors amenable to platelet transfusion may exist.…”

“…Other issues between ages 15 and 25 included evolution of hypophosphataemia, cholelithiasis secondary to octreotide, thyrotoxicosis with multinodular goitre treated with 131 I , a liver lesion thought to represent focal nodular hyperplasia, and high cardiac output without cardiomyopathy, treated with digoxin. On routine endoscopy from age 14, hamartomatous GI polyps were found throughout oesophagus, stomach, and duodenum, remaining benign after follow-up until near his death [2]. Mild hyperparathyroidism occurred at age 28, with a 1-cm hypoechoic nodule identified behind the thyroid gland.…”

Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright

“…Se describen hallazgos poco comunes en los pacientes con DF/SMA, como alteraciones gastrointestinales (hepatitis, adenomas hepáticos, pancreatitis, neoplasias mucinosas papilares intraductales, reflujo y pólipos gastrointestinales) 7,24,25 . En nuestra serie no encontramos este tipo de complicaciones, pero cabe mencionar que en la mayoría de los pacientes no se especificaba el seguimiento gastroenterológico buscando de manera activa morbilidad relacionada.…”

“…En nuestra serie no encontramos este tipo de complicaciones, pero cabe mencionar que en la mayoría de los pacientes no se especificaba el seguimiento gastroenterológico buscando de manera activa morbilidad relacionada. Se recomienda realizar estudio de imágenes en pacientes asintomáticos desde el punto de vista gastrointestinal 24,25 .…”