In localised forms of amyloidosis deposition is produced and limited to one site or organ of the body. Well-known forms are Alzheimer's disease (amyloid deposition in the brain) and diabetes mellitus (amyloid deposition in the islands of Langerhans in the pancreas). However, in clinical practice we use the term localised amyloidosis more specifically for localised deposits in larynx, eyelids, conjunctivae, urine tract, and more of these sites.
In The Netherlands two families have been detected with AApoAI amyloidosis and clinically distinct laryngeal involvement.
In the Netherlands one family with gelsolin-derived amyloidosis has been described with the common G654A mutation. The disease is characterized by cornea lattice dystrophy, cranial neuropathy, cutis laxa, and sometimes peripheral or autonomic neuropathy, carpal tunnel syndrome, minor proteinuria and cardiac involvement. No specific therapy to cure the disease is currently available. In Finland this disease is seen more frequently.
Bartels H, Dikkers FG, van der Wal J, Lokhorst HM, Hazenberg BPC. Laryngeal amyloidosis: localized versus systemic disease and update on diagnosis and therapy. Ann Otol Rhinol Laryngol 2004; 113:741-8
Hazenberg AJ, Dikkers FG, Hawkins PN, Bijzet J, Rowczenio D, Gilbertson J, Posthumus MD, Leijsma MK, Hazenberg BP. Laryngeal presentation of systemic AApoAI amyloidosis in patients with apolipoprotein AI variants Leu174Ser and Leu178Pro. The Laryngoscope 2009; 119:608-15.