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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

Clinicopathological Characteristics of Light and Heavy Chain Deposition Disease: A Case Series.
Wang Y, Chen D, Hu R, Zhang Y, Liang D, Xu F, Liu F, Zhu X, Lin Y, Yang X, Liu X, Xing G, Liang S, Zeng C
Am J Kidney Dis 2024 Oct;84(4):447-456.e1. Epub 2024 May 14 doi: 10.1053/j.ajkd.2024.03.021. PMID: 38750878
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
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
Nonamyloidotic monoclonal immunoglobulin deposition disease. Light-chain, heavy-chain, and light- and heavy-chain deposition diseases.
Buxbaum J, Gallo G
Hematol Oncol Clin North Am 1999 Dec;13(6):1235-48. doi: 10.1016/s0889-8588(05)70123-4. PMID: 10626147
Monoclonal and biclonal immunoglobulin-producing disorders.
Osterborg A, Mellstedt H
Eur J Haematol Suppl 1989;51:11-8. PMID: 2697582

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
Heavy chain diseases.
Wahner-Roedler DL, Kyle RA
Best Pract Res Clin Haematol 2005;18(4):729-46. doi: 10.1016/j.beha.2005.01.029. PMID: 16026747
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
Heavy-chain diseases.
Fermand JP, Brouet JC
Hematol Oncol Clin North Am 1999 Dec;13(6):1281-94. doi: 10.1016/s0889-8588(05)70127-1. PMID: 10626151

Therapy

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
Unravelling the immunopathological mechanisms of heavy chain deposition disease with implications for clinical management.
Bridoux F, Javaugue V, Bender S, Leroy F, Aucouturier P, Debiais-Delpech C, Goujon JM, Quellard N, Bonaud A, Clavel M, Trouillas P, Di Meo F, Gombert JM, Fermand JP, Jaccard A, Cogné M, Touchard G, Sirac C
Kidney Int 2017 Feb;91(2):423-434. Epub 2016 Oct 20 doi: 10.1016/j.kint.2016.09.004. PMID: 27773425
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
Alpha heavy chain disease.
Seligmann M
Blut 1975 Jul;31(1):1-4. doi: 10.1007/BF01635434. PMID: 1148399
Mu-chain disease.
Lee SL, Rosner F, Ruberman W, Glasberg S
Ann Intern Med 1971 Sep;75(3):407-14. doi: 10.7326/0003-4819-75-3-407. PMID: 5568152

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
Heavy chain diseases.
Wahner-Roedler DL, Kyle RA
Best Pract Res Clin Haematol 2005;18(4):729-46. doi: 10.1016/j.beha.2005.01.029. PMID: 16026747
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

Clinical prediction guides

A case of heavy-chain deposition disease with good long-term renal survival and a literature review.
Cai X, Zou W, Chen H, Xing C, Yu X
BMC Nephrol 2024 Sep 19;25(1):312. doi: 10.1186/s12882-024-03755-z. PMID: 39300330Free PMC Article
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
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
A case of γ1-heavy chain deposition disease successfully treated with melphalan and prednisolone therapy.
Oe Y, Nakaya I, Yahata M, Sakuma T, Sato H, Soma J
Intern Med 2010;49(14):1411-5. Epub 2010 Jul 15 doi: 10.2169/internalmedicine.49.3499. PMID: 20647658
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

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