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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

A novel immune prognostic index for stratification of high-risk patients with early breast cancer.
Lee H, Kwon MJ, Koo BM, Park HG, Han J, Shin YK
Sci Rep 2021 Jan 8;11(1):128. doi: 10.1038/s41598-020-80274-5. PMID: 33420250Free PMC Article
Monoclonal and biclonal immunoglobulin-producing disorders.
Osterborg A, Mellstedt H
Eur J Haematol Suppl 1989;51:11-8. PMID: 2697582
Monoclonal immunoglobulins.
Franklin EC
Ann Clin Lab Sci 1980 May-Jun;10(3):181-6. PMID: 6772084
Myeloma and other paraproteinemias.
Bonnet JD
Postgrad Med 1977 Feb;61(2):216-20. doi: 10.1080/00325481.1977.11712128. PMID: 401995
Human immunoglobulins: classes, subclasses, genetic variants, and idiotypes.
Natvig JB, Kunkel HG
Adv Immunol 1973;16:1-59. doi: 10.1016/s0065-2776(08)60295-3. PMID: 4125921

Diagnosis

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 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
Mu-chain disease.
Franklin EC
Arch Intern Med 1975 Jan;135(1):71-2. PMID: 1111471
Alpha chain disease.
Seligmann M, Mihaesco E, Frangione B
Ann N Y Acad Sci 1971 Dec 31;190:487-500. doi: 10.1111/j.1749-6632.1971.tb13558.x. PMID: 5003015
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
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-chain disease.
Rambaud JC, Seligmann M
Clin Gastroenterol 1976 May;5(2):341-58. PMID: 828567
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
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

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
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
Multiple myeloma: recognition and management.
George ED, Sadovsky R
Am Fam Physician 1999 Apr 1;59(7):1885-94. PMID: 10208707
Small intestinal lymphoma.
Cooper BT, Read AE
World J Surg 1985 Dec;9(6):930-7. doi: 10.1007/BF01655398. PMID: 3936285
The non-Hodgkin's lymphomas.
Sng I
Ann Acad Med Singap 1979 Apr;8(2):193-211. PMID: 121217

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
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
Subclass restriction pattern of antigen-specific antibodies in donors with defective expression of IgG or IgA subclass heavy chain constant region genes.
Hammarström L, Carbonara AO, DeMarchi M, Lefranc G, Möller G, Smith CI, Zegers BJ
Clin Immunol Immunopathol 1987 Dec;45(3):461-70. doi: 10.1016/0090-1229(87)90097-3. PMID: 2445511
Radiological characteristics of primary intestinal lymphoma of the "Mediterranean" type: observations on twelve cases.
Ramos L, Marcos J, Illanas M, Hernández-Mora M, Pérez-Payá F, Picouto JL, Santana P, Chantar C
Radiology 1978 Feb;126(2):379-85. doi: 10.1148/126.2.379. PMID: 414303
Complement-immunoglobulin relation: deficiency of C'1q associated with impaired immunoglobulin G synthesis.
Kohler PF, Müller-Eberhard HJ
Science 1969 Jan 31;163(3866):474-5. doi: 10.1126/science.163.3866.474. PMID: 4973792

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