Deposition Diseases

Helms LR, Wetzel R. Specificity of abnormal assembly in immunoglobulin light chain deposition disease and amyloidosis. J Mol Biol 1996 ... 

Rheumatic disease is defined as disease of connective tissue and medical disorders of the musculoskeletal system . The medical discipline concerned with these diseases is referred to as rheumatology. The majority of rheumatic diseases are soft tissue rheumatism and nonspecific low back pain (LBP), autoimmune inflammatory rheumatic diseases, osteoarthritis (OA), osteoporosis, crystal-deposition disease and infectious arthritis. 

The etiologies of the autoimmune inflammatory diseases, OA, osteoporosis and crystal-deposition disease are still not known in exact details. This is in contrast with impressive molecular insights gained recently. However, there is consensus that manifestations of autoimmune diseases are precipitated by either acute and/or chronic interactions of genetic and environmental risk factors. 

Gouty arthritis is an inflammatory response to the deposition of monosodium urate monohydrate crystals secondary to hyperuricemia. It is called monosodium urate crystal deposition disease. Hyperuricemia is a serum urate concentration > 7 mg% in males and >6 mg% in females. Hyperuricemia results from overproduction (10-15% of individuals) or a renal excretion of urate lower than 400 mg uric acid/24 hours (85-90% of individuals). The urate under-excretors have a urate clearance of <6 ml/min or a urate to creatinine clearance ratio of <6%. The combination of a relative excess of dietary purine consumption together with urate under-excretion is often the basis for hyperuricemia. 

Pharmaceutical therapy of acute arthritis of crystal-deposition disease is effective, in particular for gout and hyperuricemia. Treatment is directed towards termination of acute arthritis, prevention of recurring attacks and prophylaxis and reversal of complications of chronic gout. Such complications include tophi, urolithiasis, nephropathy and with hyperuricemia associated medical problems that can be prevented, inhibited, and sometimes reversed. 

Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, Jones Y, Marchegiani R, Reginato A, Russell RG, Wordsworth BP, Carr AJ, Brown MA. 2002. Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. Am J Hum Genet. 71 985-91. 

Ganeval, D. Noel, L.H. Preud home, J.L. Droz, D. Grunfeld, J.P. Light-chain deposition disease its relation with AL-type amyloidosis. Kidney Int. 1984, 2d (1), 1-9. 

Buxbaum, J.N. Chuba, J.V. Heilman, G.C. Solomon, A. Gallo, G.R. Monoclonal immunoglobulin deposition disease light chain and light and heavy chain deposition diseases and their relation to light chain amyloidosis. Clinical... 

Buxbaum, J. Mechanisms of disease monoclonal immunoglobulin deposition. Amyloidosis, light chain deposition disease, and light and heavy chain deposition disease. Hematol./Oncol. Clin. North Am. 1992, 6 (2), 323-346. 

Immunoglobulin (Ig) light chains are responsible for quite a few protein deposition diseases. Some immunoglobulin chains form amyloid deposits, whereas others do not. A protein conformational change in the partially folded protein is involved that subsequently leads to association and fibril formation. During the folding pathway of especially larger proteins, hydrophobic patches may be exposed. ... 

In both the schemes, the intermediates lead to the formation of amorphous and fibrillar aggregates that causes light chain deposition disease and light chain... 

Mullins, R.F. et al. Dmsen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elas-tosis, amyloidosis, and dense deposit disease. FASEB J. 14 (2000) 835-46. 

Cori, G.T. Biochemical aspects of glycogen deposition diseases. Mod. 

Herlitz LC, Bomback AS, Markowitz GS, Stokes MB, Smith RN, Colvin RB, Appel GB, D Agati VD (2012) Pathology after eculizumab in dense deposit disease and C3 GN. J Am Soc Nephrol 23 1229-1237... 

Field, R. A. Glycogen deposition diseases, in The Metabolic Basis of Inherited Disease, p. 178. Ed. Stanbury, W3Uigaarden, Fredrickson. New York McGraw-Hill Book Co. 1960. 

Colombat M, Stem M, Groussard O, et al. Pulmonary cystic disorder related to light chain deposition disease. Am J Respir Crit Care Med 2006 173(7) 777-780. 

Histologic Considerations 150 Normal US Anatomy and Scanning Technique 153 Pathologic Changes 156 Joint Effusion 156 Rheumatoid Arthritis and Other Inflammatory Arthropathies 158 Septic Arthritis 162 Traumatic Injuries 163 Degenerative Joint Disease (Osteoarthritis) 166 Deposition Diseases 169 Postoperative Complications 173... 

Fig. 5.34a-g. Calcium pyrophosphate deposition disease, a-c Transverse 12-5 MHz US images obtained over a the femoral trochlea, b the posterior aspect of the medial condyle and c the lateral meniscus in a patient with bilateral degenerative osteoarthritis of the knee reveal scattered hyperechoic foci (arrowheads) due to crystal deposition within the hyaline cartilage, the medial meniscus and the joint capsule (arrows). F, femur T, tibia. Note that crystals tend to be deposited in the middle layer of the cartilage, parallel to the subchondral bone, d-f Radiographic correlation, g Schematic drawing illustrates the typical deposition pattern of pyrophosphate crystals within the cartilage... 

The intra-articular involvement of calcium hydroxyapatite deposition disease—a condition more commonly referred to as calcifying tendinitis because of the involvement of tendons near to their osseous insertion—may produce an acute arthritis (chronic apatite arthropathy) possibly mimicking an infectious condition (see Chapter 6). 

Steinbach LC (2004) Calcium pyrophosphate dehydrate and calcium hydroxyapatite crystal deposition diseases imaging perspectives. Radiol Clin North Am 42 185-205 Steiner GM, Sprigg A (1992) The value of ultrasound in the assessment of bone. Br J Radiol 65 589-593 Stieber JR, Dormans JP (2005) Manifestations of hereditary multiple exostoses. J Am Acad Orthop Surg 13 110-120 Stone M, Bergin D, Whelan B et al (2001) Power Doppler ultrasound assessment of rheumatoid hand synovitis. J Rheumatol 28 1979-1982... 

Among the degenerative arthropathies that typically involve the shoulder, there are a variety of conditions related to crystal deposition diseases, including renal osteodystrophy, milk alkali syndrome, hyper-vitaminosis D and the so-called Milwaukee shoulder syndrome . This last condition, which is also known as apatite-associated destructive arthritis, hemorrhagic shoulder or rapid destructive arthritis of the shoulder, consists of massive rotator cuff tear, osteoarthritic changes, hlood-stained noninflammatory joint effusion containing calcium hydroxyapatite and calcium pyrophosphate dihydrate crystals, synovial hyperplasia and extensive destruction... 

Fig. 6.141a,b. Chondrocalcinosis. a Oblique coronal 12-5 MHz US image over the supraspinatus tendon with b radiographic correlation demonstrates a continuum of fine hyperechoic spots (arrows) located in series within the hypoechoic articular cartilage of the humeral head (HH), reflecting calcium pyrophosphate dihydrate crystal deposition disease... 

Cooper AM, Hayward C, Williams BD (1993) Calcium pyrophosphate deposition disease involvement of the acromioclavicular joint with pseudocyst formation. Br J Rheumatol 32 248-250... 

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