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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.

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Amyloidosis Type V; Finnish Type Amyloidosis; Meretoja Type Amyloidosis; Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy; Amyloidosis due to Mutant Gelsolin; Generalized Amyloid Disease.

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Autosomal dominant.

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Amyloidosis type V results from the extracellular deposition of gelsolin, a proteinaceous material. These deposits impair organ function.

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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 differential diagnosis.

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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.

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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.

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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.

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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 4:173, 1973.  [PubMed: 4543600]
Rothstein A, Auran J, Wittpen JR, et al: Confocal microscopy in meretoja syndrome. Cornea 21:364, 2002.  [PubMed: 11973384]
Seguin P, Freidel M, Perpoint B: Amyloid disease and extreme macroglossia. Apropos of a case. Rev Stomatol Chir Maxillofac 95:339, 1994.  [PubMed: 7984953]
Shah H, Garbe L, Nussbaum E, et al: Benign tumors of the tracheobronchial tree. Endoscopic characteristic and role of laser resection. Chest 107:1744, 1995.  [PubMed: 7781378]

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