Localized Amyloidosis

Amyloid fibril protein typing in 132 localized cases revealed 120 AL (91%), 8 AA (6%), 3 ATTR (2%), and 1 AB2M (55). All analyzed lung-related cases have been composed of light chain (AL) immunoglobulin, typically encompassing the variable region of k1 or Xlll (61-63). The presence of clonal plasma 

Three anatomic patterns of TBA exist, each with distinct pulmonary function test characteristics (i) proximal trachea, ii) mainstem bronchi, and (Hi) distal airways. Proximal disease limits expiratory airflows, producing flow-volume loop changes consistent with extrathoracic upper airway obstruction. Mainstem bronchial disease affects large airways flow, decreasing FEVl/FWC ratio. In contrast, distal airway involvement results in decreased small airway or FEF 25 to 75 flows (56). Bronchoscopically, TBA appears as submucosal plaques or diffuse infiltration in 44% cases, nodular disease in 28%, and circumferential lesions in 28% (58). 

Amyloid nodules are usually clinically silent and incidental radiographic findings, generally presenting at 64 years (73). Consequently, the true prevalence 

Radiology of Localized Amyloidosis (Table 4) Table 4 Radiographic Manifestations of Localized Amyloidosis 

Parenchymal Hyperinflation Airway calcification Volume loss/focal atelectasis Diffuse interstitial Airway lumen narrowing Amyloid deposit calcification Irregular endolumenal surfaces Inters titial/interlobular  

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Creutzfeldt-Jakob disease (CJD) Alzheimer s disease (AD) Hemodialysis-related amyloidosis Primary systemic amyloidosis Secondary systemic amyloidosis Familial amyloid polyneuropathy I Familial amyloid polyneuropathy III Cerebral amyloid angiopathy Finnish hereditary systemic amyloidosis Type II diabetes Injection-localized amyloidosis Medullary thyroid carcinoma Atrial amyloidosis... 

Swift B. Examination of insulin injection sites an unexpected finding of localized amyloidosis. Diabet Med 2002 19(10) 881-2. 

Cutaneous amyloidosis localized amyloidosis of the skin Lambda immunoglobulin light chains of variable subgroup I Systemic... 

Morilla ME, Kocher J, Harmaty M. Localized amyloidosis at the site of enfuvirtide injection. Ann Intern Med 2009 151(7) 515-6. 

Gal R, Korzets A, Schwartz A, et al. Systemic distribution of beta 2-microglobulin-derived amyloidosis in patients who undergo long-term hemodialysis. Report of seven cases and review of the literature. Arch Pathol Lab Med 1994 118(7) 718-721. Biewend ML, Menke DM, Calamia KT. The spectrum of locahzed amyloidosis a case series of 20 patients and review of the hterature. Amyloid 2006 13(3) 135-142. O Regan A, Fenlon HM, Beamis JF Jr., et al. Tracheobronchial amyloidosis the Boston University experience from 1984 to 1999. Medicine (Baltimore) 2000 79(2) 69-79. Paccahn M, Hachulla E, Cazalet C, et al. Localized amyloidosis a survey of 35 French cases. Amyloid 2005 12(4) 239-245. 

Berg AM, Troxler RF, Grillone G, et al. Localized amyloidosis of the larynx evidence for light chain composition. Ann Otol Rhinol Laryngol 1993 102(11) 884-889. 

HI. Haan, J., Maat-Schieman, M. L., van Duinen, S. G., Jensson, O., Thorsteinsson, L., and Roos, R. A., Co-localization of 3/A4 and cystatin C in cortical blood vessels in Dutch, but not in Icelandic hereditary cerebral hemorrhage with amyloidosis. Acta Neurol. Scand. 89(5), 367-371 (1994). 

Aortic medial amyloidosis Medin (lactadherin) Local... 

Type II diabetes, pancreatic islet amyloidosis Amyhn, also known as lAPP Local... 

Fibrinogen amyloidosis Variants of fibrinogen a-chain Local... 

Restrictive amyloid heart ApoAI amyloidosis Apohpoprotein A1 Local... 

ApoAIV amyloidosis N-terminal fragment of apohpoprotein AIV Local... 

A physieal examination is necessary to find out if the organs are functioning properly. Blood, urine and bone marrow tests may also be done. A small tissue sample (biopsy) may be taken from the rectum, abdominal fat or bone marrow to determine if the person has amyloidosis. These biopsies are relatively minor procedures done in an outpatient setting with a local anesthetic. Occasionally, samples are taken from the liver, nerve, heart or kidney. This may require hospitalization and can help diagnose the specific oi an affected by amyloidosis. Blood or urine tests can detect the protein, but only bone marrow tests or other small samples of tissue can positively establish the di nosis of amyloidosis. 

The formation of this insoluble variety of protein, resistant to normal proteolysis due to its P-conformation, is the one characteristic common to aU types of amyloid, whatever their composition. Amyloid fibrils may have multiple soluble plasma protein precursors that are either increased in quantity or modified by proteolysis to make them insoluble. The result is a disease group with diverse etiologies, called amyloidosis. The deposits can be local or systemic. They exert pressure on vital structures and eventually cause death. No details are known about the local mechanism of formation of these deposits or the determinant for the site of deposition. 

Restrictive myocardial disease may result from several local or systemic disorders. Amyloidosis, hemochromatosis, scleroderma, carcinoid, sarcoidosis, diabetes, pseudoxanthoma elasticum, and endomyocardial fibrosis have been known to cause restrictive cardiomyopathy. The most common cause of restrictive cardiomyopathy in the industrialized world is amyloidosis, whereas endomyocardial fibrosis is a common cause in tropical areas of the world. There may be a genetic predisposition to idiopathic restrictive cardiomyopathy. ... 

The other changes found at autopsy in Addison s disease depend upon the course of the disease. For example, Addison s disease may be associated with generalized tuberculosis or generalized amyloidosis. Secondary changes, such as localized atrophy of the gland s basophilic cells, have been described in the hypophysis of patients with Addison s disease. 

Skin Local injection site reactions are common with enfuvirtide. In the TORO 2 study, among the 338 patients given enfuvirtide 98% had at least one injection site reaction. The common signs and symptoms of injection site reactions were induration, erythema, nodules, and cysts only 3.3% discontinued treatment as a result [213 ]. There were similar and consistent findings in the TORO 1 study, which was conducted in North and South America [214 ]. Biopsies of the lesion showed an inflammatory response consistent with a localized hypersensitivity reaction [216 ]. In a 47-year-old man amyloidosis occurred at the injection site [217 ]. 

Senile systemic or age-related amyloidosis (SSA) results from the misfolding of wild-type transthyretin protein. Age-related amyloidosis occurs in systemic and localized (isolated atrial amyloid, senile aortic amyloidosis) forms. Elderly men are almost uniformly involved. Ng et al. (49) recently reported 18 SSA patients ranging in age from 67 to 86 years. 

Setoguchi M, Hoshii Y, Kawano H, et al. Analysis of plasma cell clonality in localized AL amyloidosis. Amyloid 2000 7(l) 41-45. 

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