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Heavy chain disease

MedGen UID:
5469
•Concept ID:
C0018852
•
Neoplastic Process
Synonyms: Heavy Chain Disease; Heavy Chain Diseases
SNOMED CT: Heavy chain disease (68979007); Heavy chain disease (6381009)
 
Monarch Initiative: MONDO:0019464
Orphanet: ORPHA86864

Definition

Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHeavy chain disease
Follow this link to review classifications for Heavy chain disease in Orphanet.

Professional guidelines

PubMed

Alpha-heavy chain disease, Mediterranean lymphoma, and immunoproliferative small intestinal disease: a review of clinicopathological features, pathogenesis, and differential diagnosis.
Fine KD, Stone MJ
Am J Gastroenterol 1999 May;94(5):1139-52. doi: 10.1111/j.1572-0241.1999.01057.x. PMID: 10235185
Multiple myeloma: recognition and management.
George ED, Sadovsky R
Am Fam Physician 1999 Apr 1;59(7):1885-94. PMID: 10208707

Recent clinical studies

Etiology

Heavy Chain Deposition Disease: Clinicopathologic Characteristics of a Chinese Case Series.
Zhang Y, Li X, Liang D, Xu F, Liang S, Zhu X, Zheng N, Huang X, Liu Z, Zeng C
Am J Kidney Dis 2020 May;75(5):736-743. Epub 2019 Nov 5 doi: 10.1053/j.ajkd.2019.08.013. PMID: 31699519
The clinicopathologic characteristics of kidney diseases related to monotypic IgA deposits.
Vignon M, Cohen C, Faguer S, Noel LH, Guilbeau C, Rabant M, Higgins S, Hummel A, Hertig A, Francois H, Lequintrec M, Vilaine E, Knebelmann B, Pourrat J, Chauveau D, Goujon JM, Javaugue V, Touchard G, El Karoui K, Bridoux F
Kidney Int 2017 Mar;91(3):720-728. Epub 2017 Jan 6 doi: 10.1016/j.kint.2016.10.026. PMID: 28069266
Renal monoclonal immunoglobulin deposition disease: a report of 64 patients from a single institution.
Nasr SH, Valeri AM, Cornell LD, Fidler ME, Sethi S, D'Agati VD, Leung N
Clin J Am Soc Nephrol 2012 Feb;7(2):231-9. Epub 2011 Dec 8 doi: 10.2215/CJN.08640811. PMID: 22156754
Heavy chain disease.
Witzig TE, Wahner-Roedler DL
Curr Treat Options Oncol 2002 Jun;3(3):247-54. doi: 10.1007/s11864-002-0014-3. PMID: 12057070
Idiopathic (asymptomatic) monoclonal gammopathies.
Ritzmann SE, Loukas D, Sakai H, Daniels JC, Levin WC
Arch Intern Med 1975 Jan;135(1):95-106. PMID: 122892

Diagnosis

Gamma-heavy chain disease.
Kušnierová P, Zeman D, Jelínek T, Hájek R
Klin Onkol 2020 Summer;33(4):282-285. doi: 10.14735/amko2020280. PMID: 32894957
IgD heavy-chain deposition disease: detection by laser microdissection and mass spectrometry.
Royal V, Quint P, Leblanc M, LeBlanc R, Duncanson GF, Perrizo RL, Fervenza FC, Kurtin P, Sethi S
J Am Soc Nephrol 2015 Apr;26(4):784-90. Epub 2014 Sep 5 doi: 10.1681/ASN.2014050481. PMID: 25194005Free PMC Article
Understanding and interpreting serum protein electrophoresis.
O'Connell TX, Horita TJ, Kasravi B
Am Fam Physician 2005 Jan 1;71(1):105-12. PMID: 15663032
Heavy chain disease.
Witzig TE, Wahner-Roedler DL
Curr Treat Options Oncol 2002 Jun;3(3):247-54. doi: 10.1007/s11864-002-0014-3. PMID: 12057070
Electrophoresis of proteins.
Lewis LA
CRC Crit Rev Clin Lab Sci 1970 May;1(2):233-45. doi: 10.3109/10408367009021490. PMID: 4376075

Therapy

Widespread intronic polyadenylation diversifies immune cell transcriptomes.
Singh I, Lee SH, Sperling AS, Samur MK, Tai YT, Fulciniti M, Munshi NC, Mayr C, Leslie CS
Nat Commun 2018 Apr 30;9(1):1716. doi: 10.1038/s41467-018-04112-z. PMID: 29712909Free PMC Article
Heavy Chain Disease of the Small Bowel.
Bianchi G, Sohani AR
Curr Gastroenterol Rep 2018 Jan 25;20(1):3. doi: 10.1007/s11894-018-0608-y. PMID: 29372346
Where disease pathogenesis meets protein formulation: renal deposition of immunoglobulin aggregates.
Demeule B, Gurny R, Arvinte T
Eur J Pharm Biopharm 2006 Feb;62(2):121-30. Epub 2005 Oct 10 doi: 10.1016/j.ejpb.2005.08.008. PMID: 16221544
Naturally occurring antibodies devoid of light chains.
Hamers-Casterman C, Atarhouch T, Muyldermans S, Robinson G, Hamers C, Songa EB, Bendahman N, Hamers R
Nature 1993 Jun 3;363(6428):446-8. doi: 10.1038/363446a0. PMID: 8502296
Plasma cell neoplasms.
Alexanian R
CA Cancer J Clin 1976 Jan-Feb;26(1):38-49. doi: 10.3322/canjclin.26.1.38. PMID: 812592

Prognosis

Gamma-heavy chain disease.
Kušnierová P, Zeman D, Jelínek T, Hájek R
Klin Onkol 2020 Summer;33(4):282-285. doi: 10.14735/amko2020280. PMID: 32894957
Heavy Chain Disease of the Small Bowel.
Bianchi G, Sohani AR
Curr Gastroenterol Rep 2018 Jan 25;20(1):3. doi: 10.1007/s11894-018-0608-y. PMID: 29372346
Understanding and interpreting serum protein electrophoresis.
O'Connell TX, Horita TJ, Kasravi B
Am Fam Physician 2005 Jan 1;71(1):105-12. PMID: 15663032
Heavy chain disease.
Witzig TE, Wahner-Roedler DL
Curr Treat Options Oncol 2002 Jun;3(3):247-54. doi: 10.1007/s11864-002-0014-3. PMID: 12057070
Small intestinal lymphoma.
Cooper BT, Read AE
World J Surg 1985 Dec;9(6):930-7. doi: 10.1007/BF01655398. PMID: 3936285

Clinical prediction guides

Diffuse Small Bowel Thickening.
Bandy A, Kobayashi Y, Stein AC
Gastroenterology 2021 Nov;161(5):e1-e3. Epub 2018 Feb 1 doi: 10.1053/j.gastro.2018.01.051. PMID: 29408577
A Targeted Mass Spectrometry Strategy for Developing Proteomic Biomarkers: A Case Study of Epithelial Ovarian Cancer.
Hüttenhain R, Choi M, Martin de la Fuente L, Oehl K, Chang CY, Zimmermann AK, Malander S, Olsson H, Surinova S, Clough T, Heinzelmann-Schwarz V, Wild PJ, Dinulescu DM, Niméus E, Vitek O, Aebersold R
Mol Cell Proteomics 2019 Sep;18(9):1836-1850. Epub 2019 Jul 9 doi: 10.1074/mcp.RA118.001221. PMID: 31289117Free PMC Article
Understanding and interpreting serum protein electrophoresis.
O'Connell TX, Horita TJ, Kasravi B
Am Fam Physician 2005 Jan 1;71(1):105-12. PMID: 15663032
Immunoproliferative small intestinal disease: a study of 13 cases with alpha heavy-chain disease.
Price SK
Histopathology 1990 Jul;17(1):7-17. doi: 10.1111/j.1365-2559.1990.tb00658.x. PMID: 2227833
Localization of the carbohydrate units in a human immunoglobulin light chain, protein Sm lambda.
Garver FA, Chang LS, Kiefer CR, Mendicino J, Chandrasekaran EV, Isobe T, Osserman EF
Eur J Biochem 1981 Apr;115(3):643-52. doi: 10.1111/j.1432-1033.1981.tb06250.x. PMID: 6786888

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