Beta-2 microglobulin related amyloidosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Amandeep Singh M.D.[2]
Synonyms and keywords:Dialysis related amyloidosis, β2-microglobulin amyloidosis, β2 amyloidosis, Amyloidosis due to dialysis, Amyloidosis due to Beta 2 microglobulin
Overview
In 1975, Warren and Otieno were thee first to discover the association between β2-microglobulin related amyloidosis and Carpal tunnel syndrome. In 1985, Gejyo et al. identified β2-microglobulin as the protein precursor of the amyloid associated with chronic hemodialysis. There is no established system for the classification of beta2-microglobulin related amyloidosis. The exact pathogenesis of β2-microglobulin related amyloidosis is not fully understood.
Historical Perspective
- In 1975, Warren and Otieno were thee first to discover the association between β2-microglobulin related amyloidosis and Carpal tunnel syndrome.[1]
- In 1985, Gejyo et al. identified β2-microglobulin as the protein precursor of the amyloid associated with chronic hemodialysis.[2]
- In 1993, advanced glycation end products were first implicated in the pathogenesis of β2-microglobulin related amyloidosis by Miyata et al.[3]
Classification
There is no established system for the classification of beta2-microglobulin related amyloidosis.
Pathophysiology
- The exact pathogenesis of β2-microglobulin related amyloidosis is not fully understood.
- Advanced glycation end products can be responsible for β2-microglobulin deposition.[3]
Causes
The exact cause of β2-microglobulin related amyloidosis has not been identified.
Differentiating β2-Microglobulin Related Amyloidosis from other Diseases
β2-microglobulin related amyloidosis must be differentiated from other diseases that cause joint pain and joint stiffness, such as bursitis and Carpal tunnel syndrome.
Epidemiology and Demographics
- The exact incidence/prevalence of β2-microglobulin related amyloidosis can not be determined as the biopsy is the only way to find out the diagnosis and can not be done in every patient undergoing hemodialysis.[4]
- In a prospective postmortem study, amyloid deposition in joints was found in 21% of patients receiving hemodialysis for < 2 years, in 50% at 4 to 7 years, in 90 percent at 7 to 13 years, and in 100 percent at > 13 years.[5]
- The incidence of β2-microglobulin related amyloidosis increases with age especially in patients on chronic dialysis.
- It can be seen in as much as 20% of patients after 2–4 years of dialysis and in 100% of patients after 13 years of hemodialysis.
- There is no racial predilection to β2-microglobulin related amyloidosis.
Risk Factors
The most potent risk factor in the development of beta2-microglobulin related amyloidosis is chronic Hemodialysis. Other risk factors include initiation of dialysis in young age, hemodialysis treatment with low purity dialysate and use of dialysis membranes with low flux.[6]
Screening
There is insufficient evidence to recommend routine screening for beta2-microglobulin related amyloidosis
Natural History, Complications, and Prognosis
- Common complications of beta2-microglobulin related amyloidosis include bone complications that comprises carpal tunnel syndrome[7], chronic arthropathy like spondyloarthropathy[8], presence of subchondral bone cysts and pathological fracture.[9][10]
- Pulmonary complications include Pulmonary hypertension
- Cardiac complications are rare but include heart failure and Mitral regurgitation.[11]
Diagnosis
Diagnostic Study of Choice
- The diagnostic study of choice is biopsy which is considered the gold standard diagnostic technique.[12]
- The diagnosis of β2-microglobulin related amyloidosis is made with the combination of clincal and radiological features where biopsy is not or can't be performed.
History and Symptoms
- The majority of patients with beta2 microglobulin related amyloidosis initially are asymptomatic.
- A positive history of chronic hemodialysis expressing Carpal tunnel syndrome is suggestive of beta2 microglobulin related amyloidosis. The most common symptoms of β2-microglobulin related amyloidosis include joint pain, tingling; enlargement of the tongue, dysphonia,Dysphagia and Dysgeusia(when gastrointestinal tract is involved)
Physical Examination
Common physical examination findings of beta2 microglobulin related amyloidosis include Tinel's sign.
Laboratory Findings
- There are no diagnostic laboratory findings associated with beta2-microglobulin related amyloidosis.
Electrocardiogram
- There are no ECG findings associated with beta2-microglobulin related amyloidosis.
X-ray
- An x-ray may be helpful in the diagnosis of beta2-microglobulin related amyloidosis. Findings on an x-ray suggestive of beta2-microglobulin related amyloidosis include radiolucent lesions or bone cysts, frequently with thin sclerotic margins.[13]
Echocardiography
- Echocardiography may be helpful in the diagnosis of [disease name]. Findings on an echocardiography suggestive of beta2-microglobulin related amyloidosis include findings of heart failure and Mitral regurgitation.
- For more findings of echocardiography of cardiac amyloidosis due to beta2-microglobulin related amyloidosis, please click here.
CT scan
- CT scan may be helpful in the diagnosis of beta2-microglobulin related amyloidosis. Findings on CT scan suggestive of beta2-microglobulin related amyloidosis include [finding 1], [finding 2], and [finding 3].[13]
MRI
- MRI may be helpful in the diagnosis of beta2-microglobulin related amyloidosis Findings on MRI suggestive of beta2-microglobulin related amyloidosis include [finding 1], [finding 2], and [finding 3].
Other Imaging Findings
- Scintigraphy may be helpful in the diagnosis of beta2-microglobulin related amyloidosis. Findings suggestive of beta2-microglobulin related amyloidosis include amyloid deposits in the carpal tunnel.[14]
Other Diagnostic Studies
- Biopsy is helpful in the diagnosis of beta2-microglobulin related amyloidosis . Findings diagnostic of beta2-microglobulin related amyloidosis include apple-green birefringence under polarized light when prestained with Congo red.
Treatment
Medical Therapy
- The mainstay of treatment for beta2-microglobulin related amyloidosis is Kidney transplantation
- Those who are not able to get a kidney transplant needs Hemodialysis with high flux membrane and dialysate[15]
Surgery
- Surgical intervention is not recommended for the management of beta2-microglobulin related amyloidosis.
- Arthroscopic surgery done in the cases with joint infiltration with B2 microglobulin where removal of synovium provides relief.[16]
Primary Prevention
- There are no established measures for the primary prevention of beta2-microglobulin related amyloidosis.
- Effective measures for the primary prevention of beta2-microglobulin related amyloidosis include kidney transplant as soon as available.
Secondary Prevention
- Effective measures for the secondary prevention of beta2-microglobulin related amyloidosis include avoiding the use of low flux membrane, clearing dialysate regularly, performing DEXA scan.
References
- ↑ Warren DJ, Otieno LS (1975). "Carpal tunnel syndrome in patients on intermittent haemodialysis". Postgrad Med J. 51 (597): 450–2. doi:10.1136/pgmj.51.597.450. PMC 2496055. PMID 1187497.
- ↑ Gejyo F, Yamada T, Odani S, Nakagawa Y, Arakawa M, Kunitomo T; et al. (1985). "A new form of amyloid protein associated with chronic hemodialysis was identified as beta 2-microglobulin". Biochem Biophys Res Commun. 129 (3): 701–6. doi:10.1016/0006-291x(85)91948-5. PMID 3893430.
- ↑ 3.0 3.1 Miyata T, Oda O, Inagi R, Iida Y, Araki N, Yamada N; et al. (1993). "beta 2-Microglobulin modified with advanced glycation end products is a major component of hemodialysis-associated amyloidosis". J Clin Invest. 92 (3): 1243–52. doi:10.1172/JCI116696. PMC 288264. PMID 8376584.
- ↑ Kay, Jonathan (2009). "β2-microglobulin amyloidosis". Amyloid. 4 (3): 187–211. doi:10.3109/13506129709014384. ISSN 1350-6129.
- ↑ Jadoul M, Garbar C, Noël H, Sennesael J, Vanholder R, Bernaert P; et al. (1997). "Histological prevalence of beta 2-microglobulin amyloidosis in hemodialysis: a prospective post-mortem study". Kidney Int. 51 (6): 1928–32. doi:10.1038/ki.1997.262. PMID 9186884.
- ↑ Davison AM (1995). "beta 2-microglobulin and amyloidosis: who is at risk?". Nephrol Dial Transplant. 10 Suppl 10: 48–51. PMID 8825433.
- ↑ Kopeć J, Gadek A, Drozdz M, Miśkowiec K, Dutka J, Sydor A; et al. (2011). "Carpal tunnel syndrome in hemodialysis patients as a dialysis-related amyloidosis manifestation--incidence, risk factors and results of surgical treatment". Med Sci Monit. 17 (9): CR505–9. doi:10.12659/msm.881937. PMC 3560521. PMID 21873947.
- ↑ Ohashi K, Hara M, Kawai R, Ogura Y, Honda K, Nihei H; et al. (1992). "Cervical discs are most susceptible to beta 2-microglobulin amyloid deposition in the vertebral column". Kidney Int. 41 (6): 1646–52. doi:10.1038/ki.1992.237. PMID 1501421.
- ↑ Yamamoto S, Kazama JJ, Maruyama H, Nishi S, Narita I, Gejyo F (2008). "Patients undergoing dialysis therapy for 30 years or more survive with serious osteoarticular disorders". Clin Nephrol. 70 (6): 496–502. doi:10.5414/cnp70496. PMID 19049706.
- ↑ Matsumoto K, Kikuchi J, Kaneko Y, Yasuoka H, Suzuki K, Tokuyama H; et al. (2018). "Persistent fever and destructive arthritis caused by dialysis-related amyloidosis: A case report". Medicine (Baltimore). 97 (1): e9359. doi:10.1097/MD.0000000000009359. PMC 5943088. PMID 29505515.
- ↑ Campistol JM, Solé M, Muñoz-Gomez J, Lopez-Pedret J, Revert L (1990). "Systemic involvement of dialysis-amyloidosis". Am J Nephrol. 10 (5): 389–96. doi:10.1159/000168154. PMID 2080789.
- ↑ National Kidney Foundation (2003). "K/DOQI clinical practice guidelines for bone metabolism and disease in chronic kidney disease". Am J Kidney Dis. 42 (4 Suppl 3): S1–201. PMID 14520607.
- ↑ 13.0 13.1 Kiss E, Keusch G, Zanetti M, Jung T, Schwarz A, Schocke M; et al. (2005). "Dialysis-related amyloidosis revisited". AJR Am J Roentgenol. 185 (6): 1460–7. doi:10.2214/AJR.04.1309. PMID 16303998.
- ↑ Tan SY, Baillod R, Brown E, Farrington K, Soper C, Percy M; et al. (1999). "Clinical, radiological and serum amyloid P component scintigraphic features of beta2-microglobulin amyloidosis associated with continuous ambulatory peritoneal dialysis". Nephrol Dial Transplant. 14 (6): 1467–71. doi:10.1093/ndt/14.6.1467. PMID 10383009.
- ↑ National Kidney Foundation (2003). "K/DOQI clinical practice guidelines for bone metabolism and disease in chronic kidney disease". Am J Kidney Dis. 42 (4 Suppl 3): S1–201. PMID 14520607.
- ↑ Takenaka R, Fukatsu A, Matsuo S, Ishikawa K, Toriyama T, Kawahara H (1992). "Surgical treatment of hemodialysis-related shoulder arthropathy". Clin Nephrol. 38 (4): 224–30. PMID 1424310.