Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis

Gelsolin-related amyloidosis (AGel amyloidosis) is a rare autosomal dominan t disorder, reported worldwide in kindreds carrying a G654A or G654T gelsol in gene mutation. The main clinical signs are cutis laxa, cranial and perip heral neuropathy and corneal lattice dystrophy but heavy intermittent snori ng also occurs. To evaluate whether sleep apnoea is present we performed no cturnal sleep recordings, cephalometric and spirometric analyses and multip le sleep latency tests (MSLT) in five snoring patients with a G654A gelsoli n gene mutation. Four patients had obstructive sleep apnoea syndrome (OSAS) with redundant oropharyngeal and hypopharyngeal soft tissues, macroglossia and cranial neuromuscular dysfunction. The fifth patient had hypersomnia w ithout obstructive sleep apnoea. Nasal continuous positive airway pressure (CPAP) was an effective treatment. This study presents the first evidence i n favour of an association between AGel amyloidosis and OSAS, but further s tudies are needed to define the prevalence of OSAS and the pathogenetic rol es of amyloid and variant gelsolin in its evolution.