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Familial isolated hyperparathyroidism(FIHP)

MedGen UID:
1643161
•Concept ID:
C4551961
•
Disease or Syndrome
Synonym: Hyperparathyroidism, Familial Isolated Primary
SNOMED CT: Familial isolated hyperparathyroidism (786037006); FIHPT - familial isolated hyperparathyroidism (786037006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015027
OMIM®: 145000; 613733
Orphanet: ORPHA99879

Definition

A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumours in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumours and/or systemic manifestations. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial isolated hyperparathyroidism

Professional guidelines

PubMed

Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism.
Cristina EV, Alberto F
Best Pract Res Clin Endocrinol Metab 2018 Dec;32(6):861-875. Epub 2018 Sep 28 doi: 10.1016/j.beem.2018.09.010. PMID: 30665551
Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management.
Cetani F, Pardi E, Ambrogini E, Lemmi M, Borsari S, Cianferotti L, Vignali E, Viacava P, Berti P, Mariotti S, Pinchera A, Marcocci C
Clin Endocrinol (Oxf) 2006 Feb;64(2):146-52. doi: 10.1111/j.1365-2265.2006.02438.x. PMID: 16430712
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.
Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J
J Med Genet 2004 Mar;41(3):155-60. doi: 10.1136/jmg.2003.016725. PMID: 14985373Free PMC Article

Recent clinical studies

Etiology

Neurodegeneration: Microglia: Nf-Kappab Signaling Pathways.
Singh A, Ansari VA, Mahmood T, Ahsan F, Wasim R
Drug Res (Stuttg) 2022 Nov;72(9):496-499. Epub 2022 Sep 2 doi: 10.1055/a-1915-4861. PMID: 36055286
GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.
Vincze S, Peters NV, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Riccardi A, Parham K, Carling T, Costa-Guda J, Arnold A
J Clin Endocrinol Metab 2022 Apr 19;107(5):e2021-e2026. doi: 10.1210/clinem/dgab929. PMID: 34967908
Genetics of monogenic disorders of calcium and bone metabolism.
Newey PJ, Hannan FM, Wilson A, Thakker RV
Clin Endocrinol (Oxf) 2022 Oct;97(4):483-501. Epub 2021 Dec 21 doi: 10.1111/cen.14644. PMID: 34935164Free PMC Article
Hereditary Primary Hyperparathyroidism.
Newey PJ
Endocrinol Metab Clin North Am 2021 Dec;50(4):663-681. doi: 10.1016/j.ecl.2021.08.003. PMID: 34774240
Sporadic and hereditary primary hyperparathyroidism.
Pepe J, Cipriani C, Pilotto R, De Lucia F, Castro C, Lenge L, Russo S, Guarnieri V, Scillitani A, Carnevale V, D'Erasmo E, Romagnoli E, Minisola S
J Endocrinol Invest 2011 Jul;34(7 Suppl):40-4. PMID: 21985979

Diagnosis

GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.
Vincze S, Peters NV, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Riccardi A, Parham K, Carling T, Costa-Guda J, Arnold A
J Clin Endocrinol Metab 2022 Apr 19;107(5):e2021-e2026. doi: 10.1210/clinem/dgab929. PMID: 34967908
Hereditary Primary Hyperparathyroidism.
Newey PJ
Endocrinol Metab Clin North Am 2021 Dec;50(4):663-681. doi: 10.1016/j.ecl.2021.08.003. PMID: 34774240
Familial and Hereditary Forms of Primary Hyperparathyroidism.
Cetani F, Saponaro F, Borsari S, Marcocci C
Front Horm Res 2019;51:40-51. Epub 2018 Nov 19 doi: 10.1159/000491037. PMID: 30641519
Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue.
Marx SJ, Lourenço DM Jr
Horm Metab Res 2017 Nov;49(11):805-815. Epub 2017 Nov 14 doi: 10.1055/s-0043-120670. PMID: 29136674
Genetics of parathyroid tumours.
Thakker RV
J Intern Med 2016 Dec;280(6):574-583. Epub 2016 Jun 16 doi: 10.1111/joim.12523. PMID: 27306766

Therapy

Hereditary hyperparathyroidism--a consensus report of the European Society of Endocrine Surgeons (ESES).
Iacobone M, Carnaille B, Palazzo FF, Vriens M
Langenbecks Arch Surg 2015 Dec;400(8):867-86. Epub 2015 Oct 8 doi: 10.1007/s00423-015-1342-7. PMID: 26450137
Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism.
Iacobone M, Barzon L, Porzionato A, Masi G, Macchi V, Marino F, Viel G, Favia G
Surgery 2007 Dec;142(6):984-91; discussion 984-91. doi: 10.1016/j.surg.2007.09.029. PMID: 18063086
Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree.
Kassem M, Kruse TA, Wong FK, Larsson C, Teh BT
J Clin Endocrinol Metab 2000 Jan;85(1):165-7. doi: 10.1210/jcem.85.1.6299. PMID: 10634381

Prognosis

Genetics of hereditary forms of primary hyperparathyroidism.
English KA, Lines KE, Thakker RV
Hormones (Athens) 2024 Mar;23(1):3-14. Epub 2023 Dec 1 doi: 10.1007/s42000-023-00508-9. PMID: 38038882Free PMC Article
Do Patients With Atypical Parathyroid Adenoma Need Close Follow-up?
Saponaro F, Pardi E, Mazoni L, Borsari S, Torregrossa L, Apicella M, Frustaci G, Materazzi G, Miccoli P, Basolo F, Marcocci C, Cetani F
J Clin Endocrinol Metab 2021 Oct 21;106(11):e4565-e4579. doi: 10.1210/clinem/dgab452. PMID: 34157106
Multiple endocrine neoplasia type 1 (MEN1).
Thakker RV
Best Pract Res Clin Endocrinol Metab 2010 Jun;24(3):355-70. doi: 10.1016/j.beem.2010.07.003. PMID: 20833329
Parathyroid hormone-dependent hypercalcemia.
Toke J, Patócs A, Balogh K, Gergics P, Stenczer B, Rácz K, Tóth M
Wien Klin Wochenschr 2009;121(7-8):236-45. doi: 10.1007/s00508-009-1149-z. PMID: 19562279
Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management.
Cetani F, Pardi E, Ambrogini E, Lemmi M, Borsari S, Cianferotti L, Vignali E, Viacava P, Berti P, Mariotti S, Pinchera A, Marcocci C
Clin Endocrinol (Oxf) 2006 Feb;64(2):146-52. doi: 10.1111/j.1365-2265.2006.02438.x. PMID: 16430712

Clinical prediction guides

GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.
Szalat A, Shpitzen S, Pollack R, Mazeh H, Durst R, Meiner V
Front Endocrinol (Lausanne) 2023;14:1254156. Epub 2023 Dec 7 doi: 10.3389/fendo.2023.1254156. PMID: 38130397Free PMC Article
Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.
Park HS, Lee YH, Hong N, Won D, Rhee Y
Front Endocrinol (Lausanne) 2022;13:853171. Epub 2022 Apr 28 doi: 10.3389/fendo.2022.853171. PMID: 35586626Free PMC Article
GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.
Vincze S, Peters NV, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Riccardi A, Parham K, Carling T, Costa-Guda J, Arnold A
J Clin Endocrinol Metab 2022 Apr 19;107(5):e2021-e2026. doi: 10.1210/clinem/dgab929. PMID: 34967908
Do Patients With Atypical Parathyroid Adenoma Need Close Follow-up?
Saponaro F, Pardi E, Mazoni L, Borsari S, Torregrossa L, Apicella M, Frustaci G, Materazzi G, Miccoli P, Basolo F, Marcocci C, Cetani F
J Clin Endocrinol Metab 2021 Oct 21;106(11):e4565-e4579. doi: 10.1210/clinem/dgab452. PMID: 34157106
Genetic defects associated with familial and sporadic hyperparathyroidism.
Hendy GN, Cole DE
Front Horm Res 2013;41:149-65. Epub 2013 Mar 19 doi: 10.1159/000345675. PMID: 23652676

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