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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
Immunoproliferative small intestinal disease: Mediterranean lymphoma and alpha heavy chain disease.
Martin IG, Aldoori MI
Br J Surg 1994 Jan;81(1):20-4. doi: 10.1002/bjs.1800810107. PMID: 8313111

Diagnosis

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
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

Therapy

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
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
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
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
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
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
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis?
Husby G
Curr Opin Rheumatol 2000 Jan;12(1):65-70. doi: 10.1097/00002281-200001000-00011. PMID: 10647957
Implications of heavy chain disease protein sequences for multiple gene theories of immunoglobulin synthesis.
Terry WD, Ohms J
Proc Natl Acad Sci U S A 1970 Jun;66(2):558-63. doi: 10.1073/pnas.66.2.558. PMID: 4194868Free PMC Article

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