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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
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
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

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

Immunoglobulin heavy chain gene rearrangement in heavy chain deposition disease suggests it is a plasma cell disease: a case report.
Rao Q, Xu R, Wan Q
J Int Med Res 2022 Mar;50(3):3000605221086428. doi: 10.1177/03000605221086428. PMID: 35301906Free 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
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
Immunobiology and pathogenesis of alpha chain disease.
Seligmann M
Ciba Found Symp 1977 Apr 26-28;(46):263-81. doi: 10.1002/9780470720288.ch13. PMID: 416936

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

Long-term renal survival of γ3-heavy chain deposition disease: a case report.
Katsuno T, Mizuno S, Mabuchi M, Tsuboi N, Komatsuda A, Maruyama S
BMC Nephrol 2017 Jul 17;18(1):239. doi: 10.1186/s12882-017-0645-z. PMID: 28716013Free PMC Article
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
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

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