Primary hereditary systemic amyloidosis (type V) characterized by cardiac
and airway implications. Clinical features include corneal lattice dystrophy
and cranial neuropathy (e.g., facial paresis), nephrotic syndrome and renal
failure, and cutis laxa. Peripheral polyneuropathy mainly affecting
vibration and touch senses may be present in these individuals.
Amyloidosis Type V; Finnish Type Amyloidosis; Meretoja
Type Amyloidosis; Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy;
Amyloidosis due to Mutant Gelsolin; Generalized Amyloid Disease.
Amyloidosis type V results from the extracellular
deposition of gelsolin, a proteinaceous material. These deposits impair
Amyloid deposits in the skin, kidneys, and heart.
Genetic mutation in gelsolin (asp187-to-asn) found in all Finnish families
and in several Scottish American cases studied and can therefore be
diagnostic. The Melkersson-Rosenthal syndrome may be considered in the
Arises from infiltration of all tissues by
amyloid deposits. Functional impairment may lead to death, particularly when
the liver, kidney, brain, or heart is affected. Cardiac conduction system
dysfunction with bradyarrhythmia and hypotension. This amyloidosis is often
associated with macroglossia and benign tumors of the tracheobronchial tree.
Assess the airways because of the extensive
amyloidosis deposits. In adults, if possible obtain an endoscopic status down to the carina. Obtain a
detailed cardiac history; look for dysrhythmias, syncopes, pacemaker. Ask for signs of
diastolic dysfunction, sudden dyspnea attacks, orthopnea. Obtain ECG and echocardiogram.
Be prepared for difficult laryngoscopy and tracheal
intubation (fiberoptic intubation). Be prepared for (complete) heart block:
atropine, isoprenaline, dopamine, and/or external pacemaker should be
available and ready for use. Arterial line. Be prepared for diastolic
dysfunction; titrate fluids carefully. Pulmonary artery catheter and/or
echocardiography can be useful.
Avoid drugs that may exacerbate
bradycardia. Avoid cardiac ischemia and cardiodepressant drugs.
Meretoja J: Genetic aspects of familial amyloidosis with corneal lattice
dystrophy and cranial neuropathy. Clin Genet
Rothstein A, Auran J, Wittpen JR, et al: Confocal microscopy in meretoja
Seguin P, Freidel M, Perpoint B: Amyloid disease and extreme macroglossia.
Apropos of a case. Rev Stomatol Chir Maxillofac
Shah H, Garbe L, Nussbaum E, et al: Benign tumors of the tracheobronchial
tree. Endoscopic characteristic and role of laser resection. Chest