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AH amyloidosis

MedGen UID:
1684787
Concept ID:
C5204115
Neoplastic Process
Synonyms: AH Amyloidosis; Heavy chain amyloidosis; heavy chain amyloidosis
SNOMED CT: AH amyloidosis (1231149005); Heavy chain amyloidosis (1231149005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018613
Orphanet: ORPHA442582

Definition

A rare systemic amyloidosis with characteristics of the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerve involvement has also been described. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAH amyloidosis

Professional guidelines

PubMed

Ichimata S, Kobayashi M, Shimojo H, Katoh N, Yazaki M, Kanno H
Histopathology 2018 Aug;73(2):230-239. Epub 2018 May 31 doi: 10.1111/his.13631. PMID: 29660165
Picken MM
Contrib Nephrol 2007;153:135-55. doi: 10.1159/000096765. PMID: 17075228

Recent clinical studies

Etiology

Perry M, Delarche A, Ribes D, Vergez F, Guilbeau-Frugier C, Laurent C, Huart A, Tavitian S, El Hachem H, Oberic L, Chauveau D, Michallet AS, Ysebaert L, Faguer S
Am J Hematol 2014 Oct;89(10):969-73. Epub 2014 Jul 30 doi: 10.1002/ajh.23798. PMID: 25043930
Picken MM
Contrib Nephrol 2007;153:135-55. doi: 10.1159/000096765. PMID: 17075228

Diagnosis

Nakagawa M, Yazaki M, Kametani F, Katoh N, Yoshinaga T, Higuchi K, Sekijima Y
Pathol Int 2021 Apr;71(4):245-254. Epub 2021 Mar 13 doi: 10.1111/pin.13081. PMID: 33713540
Ichimata S, Kobayashi M, Shimojo H, Katoh N, Yazaki M, Kanno H
Histopathology 2018 Aug;73(2):230-239. Epub 2018 May 31 doi: 10.1111/his.13631. PMID: 29660165
Manabe S, Hatano M, Yazaki M, Nitta K, Nagata M
Am J Kidney Dis 2015 Dec;66(6):1095-100. Epub 2015 Sep 9 doi: 10.1053/j.ajkd.2015.08.016. PMID: 26362695
Picken MM
Contrib Nephrol 2007;153:135-55. doi: 10.1159/000096765. PMID: 17075228
Cohen AS, Connors LH
J Pathol 1987 Jan;151(1):1-10. doi: 10.1002/path.1711510102. PMID: 3550020

Therapy

Fu J, Lee LX, Zhou P, Fogaren T, Varga C, Comenzo RL
Am J Case Rep 2019 Jan 11;20:43-47. doi: 10.12659/AJCR.912282. PMID: 30631033Free PMC Article
Perry M, Delarche A, Ribes D, Vergez F, Guilbeau-Frugier C, Laurent C, Huart A, Tavitian S, El Hachem H, Oberic L, Chauveau D, Michallet AS, Ysebaert L, Faguer S
Am J Hematol 2014 Oct;89(10):969-73. Epub 2014 Jul 30 doi: 10.1002/ajh.23798. PMID: 25043930

Prognosis

Karam S, Leung N
Hematol Oncol Clin North Am 2020 Dec;34(6):1069-1079. Epub 2020 Sep 26 doi: 10.1016/j.hoc.2020.08.002. PMID: 33099424
Fu J, Lee LX, Zhou P, Fogaren T, Varga C, Comenzo RL
Am J Case Rep 2019 Jan 11;20:43-47. doi: 10.12659/AJCR.912282. PMID: 30631033Free PMC Article
Ichimata S, Kobayashi M, Shimojo H, Katoh N, Yazaki M, Kanno H
Histopathology 2018 Aug;73(2):230-239. Epub 2018 May 31 doi: 10.1111/his.13631. PMID: 29660165
Perry M, Delarche A, Ribes D, Vergez F, Guilbeau-Frugier C, Laurent C, Huart A, Tavitian S, El Hachem H, Oberic L, Chauveau D, Michallet AS, Ysebaert L, Faguer S
Am J Hematol 2014 Oct;89(10):969-73. Epub 2014 Jul 30 doi: 10.1002/ajh.23798. PMID: 25043930

Clinical prediction guides

Nakagawa M, Yazaki M, Kametani F, Katoh N, Yoshinaga T, Higuchi K, Sekijima Y
Pathol Int 2021 Apr;71(4):245-254. Epub 2021 Mar 13 doi: 10.1111/pin.13081. PMID: 33713540
Fu J, Lee LX, Zhou P, Fogaren T, Varga C, Comenzo RL
Am J Case Rep 2019 Jan 11;20:43-47. doi: 10.12659/AJCR.912282. PMID: 30631033Free PMC Article
Ichimata S, Kobayashi M, Shimojo H, Katoh N, Yazaki M, Kanno H
Histopathology 2018 Aug;73(2):230-239. Epub 2018 May 31 doi: 10.1111/his.13631. PMID: 29660165
Perry M, Delarche A, Ribes D, Vergez F, Guilbeau-Frugier C, Laurent C, Huart A, Tavitian S, El Hachem H, Oberic L, Chauveau D, Michallet AS, Ysebaert L, Faguer S
Am J Hematol 2014 Oct;89(10):969-73. Epub 2014 Jul 30 doi: 10.1002/ajh.23798. PMID: 25043930

Supplemental Content

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