Pituitary function and morphology in Fabry disease

Abstract

Endocrine abnormalities are known to affect patients with Fabry disease (FD). Pituitary gland theoretically represents an ideal target for FD because of high vascularization and low proliferation rate. We explored pituitary morphology and function in a cohort of FD patients through a prospectic, monocentric study at an Academic Tertiary Center. The study population included 28 FD patients and 42 sex and age-matched normal subjects. The protocol included a contrast enhancement pituitary MRI, the assessment of pituitary hormones, anti-pituitary, and anti-hypothalamus antibodies. At pituitary MRI, an empty sella was found in 11 (39%) FD patients, and in 2 (5%) controls (p < 0.001). Pituitary volume was significantly smaller in FD than in controls (p < 0.001). Determinants of pituitary volume were age and alpha-galactosidase enzyme activity. Both parameters resulted independently correlated at multivariate analysis. Pituitary function was substantially preserved in FD patients. Empty sella is a common finding in patients with FD. The major prevalence in the elderly supports the hypothesis of a progressive pituitary shrinkage overtime. Pituitary function seems not to be impaired in FD. An endocrine workup with pituitary hormone assessment should be periodically performed in FD patients, who are already at risk of cardiovascular complications.

Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study

“…Maione et at. have studied the pituitary function in 28 patients with FD and respective controls, by assessing MRI, baseline hormonal and stimulated hormonal parameters [ 20 ]. Even though the authors found an increase incidence of empty sella in patients with FD, pituitary function was not impaired.…”

“…Endocrine organs are frequently referred as targets for glycosphingolipid accumulations [ 16 , 17 ], basically, due to their high vascularisation and their low proliferation rate. Moreover, case–control studies regarding endocrine dysfunctions in patients with FD included only small number of patients [ 18 , 19 ] or focused on a specific organ such as the pituitary [ 20 ] or thyroid gland [ 21 ]. Overall, the connection of endocrine diseases found in patients and the pathophysiology of FD remains unclear.…”

Hipofizer disfonksiyonu olan Fabry hastası: alışılmadık bir görünüm

“…Maione et al 12 detailed investigated pituitary morphology and function in a cohort of patients with Fabry Disease and aged-matched healthy controls. At pituitary MRI, empty sella was increased in patients with Fabry Disease (39%) than control subjects (5%).…”

Fabry Disease, a Complex Pathology Not Easy to Diagnose

“…The endocrine system has been the object of deep investigations: it frequently presents a deficit related to high vascularity and low cellular turnover that are typical of endocrine tissue. 8,9 Besides the impairment of the peripheral nervous system, Fabry patients present a direct involvement of the brain with juvenile ischemic strokes and possible hemorrhagic episodes. However, the classic clinical picture, with all the typical manifestations of the disease, is observed only in about 30% of affected patients.…”