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**Cyclin D1 gene translocation and oncogene action observerd in 8% of adenomas
**Cyclin D1 gene translocation and oncogene action observerd in 8% of adenomas
**Cyclin D1 gene overexpression is pbserved in 20% to 40% of parathyroid adenomas
**Cyclin D1 gene overexpression is pbserved in 20% to 40% of parathyroid adenomas
*MEN1 gene:<ref name="pmid19373510">{{cite journal| author=Westin G, Björklund P, Akerström G| title=Molecular genetics of parathyroid disease. | journal=World J Surg | year= 2009 | volume= 33 | issue= 11 | pages= 2224-33 | pmid=19373510 | doi=10.1007/s00268-009-0022-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19373510  }} </ref>
*MEN1 gene:
**MEN1 is a tumor supressor gene on chronosome 11q13.
**MEN1 is a tumor supressor gene on chronosome 11q13.
**Somatic loss of single MEN1 allele is observed in  25% to 40% of sporadic parathyroid adenomas.
**Somatic loss of single MEN1 allele is observed in  25% to 40% of sporadic parathyroid adenomas.
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===Less common cause===
===Less common cause===
*Long standing celiac disease<ref name="pmid17148709">{{cite journal |vauthors=Maida MJ, Praveen E, Crimmins SR, Swift GL |title=Coeliac disease and primary hyperparathyroidism: an association? |journal=Postgrad Med J |volume=82 |issue=974 |pages=833–5 |year=2006 |pmid=17148709 |pmc=2653933 |doi=10.1136/pgmj.2006.045500 |url=}}</ref>
*Long standing celiac disease




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*If left untreated, some of patients with hyperparathyroidism may develop marked hypercalcemia, marked hypercalciuria, cortical bone demineralization and nephrolithiasis.
*If left untreated, some of patients with hyperparathyroidism may develop marked hypercalcemia, marked hypercalciuria, cortical bone demineralization and nephrolithiasis.
*These complications resolves after the treatment.
*These complications resolves after the treatment.
 
*Untreated complication may be fatal.<ref name="pmid3878002">{{cite journal |vauthors=Corlew DS, Bryda SL, Bradley EL, DiGirolamo M |title=Observations on the course of untreated primary hyperparathyroidism |journal=Surgery |volume=98 |issue=6 |pages=1064–71 |year=1985 |pmid=3878002 |doi= |url=}}</ref>
 
==Complications==
==Complications==
Complications of primary hyperparathyroidism are due to hypercalcemia. Common complications of primary hyperparathyroidism include:
Complications of primary hyperparathyroidism are due to hypercalcemia. Common complications of primary hyperparathyroidism include:
*Bone related complication: <ref name="pmid251660472">{{cite journal |vauthors=Bandeira F, Cusano NE, Silva BC, Cassibba S, Almeida CB, Machado VC, Bilezikian JP |title=Bone disease in primary hyperparathyroidism |journal=Arq Bras Endocrinol Metabol |volume=58 |issue=5 |pages=553–61 |year=2014 |pmid=25166047 |pmc=4315357 |doi= |url=}}</ref><ref name="pmid9801732">{{cite journal |vauthors=Mazzuoli GF, D'Erasmo E, Pisani D |title=Primary hyperparathyroidism and osteoporosis |journal=Aging (Milano) |volume=10 |issue=3 |pages=225–31 |year=1998 |pmid=9801732 |doi= |url=}}</ref><ref name="pmid114935802">{{cite journal| author=Lips P| title=Vitamin D deficiency and secondary hyperparathyroidism in the elderly: consequences for bone loss and fractures and therapeutic implications. | journal=Endocr Rev | year= 2001 | volume= 22 | issue= 4 | pages= 477-501 | pmid=11493580 | doi=10.1210/edrv.22.4.0437 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11493580  }}</ref><ref name="pmid20305774">{{cite journal |vauthors=Michael JW, Schlüter-Brust KU, Eysel P |title=The epidemiology, etiology, diagnosis, and treatment of osteoarthritis of the knee |journal=Dtsch Arztebl Int |volume=107 |issue=9 |pages=152–62 |year=2010 |pmid=20305774 |pmc=2841860 |doi=10.3238/arztebl.2010.0152 |url=}}</ref>
*Bone related complication:  
**Brown tumor
**Brown tumor
**Osteitis fibrous cystica
**Osteitis fibrous cystica
Line 131: Line 130:
**Cardiac calcific deposits in the myocardium
**Cardiac calcific deposits in the myocardium
**Aortic and mitral valve calcification
**Aortic and mitral valve calcification
*Endocrine complications:<ref name="pmid228748072">{{cite journal |vauthors=Bai HX, Giefer M, Patel M, Orabi AI, Husain SZ |title=The association of primary hyperparathyroidism with pancreatitis |journal=J. Clin. Gastroenterol. |volume=46 |issue=8 |pages=656–61 |year=2012 |pmid=22874807 |pmc=4428665 |doi=10.1097/MCG.0b013e31825c446c |url=}}</ref>
*Endocrine complications:
**Pancreatitis
**Pancreatitis
**Parathyroid crisis
**Parathyroid crisis
*Gastrointestinal complications:<ref name="pmid38780022">{{cite journal |vauthors=Corlew DS, Bryda SL, Bradley EL, DiGirolamo M |title=Observations on the course of untreated primary hyperparathyroidism |journal=Surgery |volume=98 |issue=6 |pages=1064–71 |year=1985 |pmid=3878002 |doi= |url=}}</ref>
**Peptic ulcer disease
*Neuromuscular complications:
*Neuromuscular complications:
*Pregnancy related complications:
*Pregnancy related complications:
**Neonatal hypoparathyroidism
**Neonatal hypoparathyroidism
*Psychiatric complications:<ref name="pmid21917870">{{cite journal |vauthors=Espiritu RP, Kearns AE, Vickers KS, Grant C, Ryu E, Wermers RA |title=Depression in primary hyperparathyroidism: prevalence and benefit of surgery |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=11 |pages=E1737–45 |year=2011 |pmid=21917870 |doi=10.1210/jc.2011-1486 |url=}}</ref>
*Psychiatric complications:
**Depression
**Depression
*Renal complications:<ref name="pmid22470864">{{cite journal |vauthors=Lila AR, Sarathi V, Jagtap V, Bandgar T, Menon PS, Shah NS |title=Renal manifestations of primary hyperparathyroidism |journal=Indian J Endocrinol Metab |volume=16 |issue=2 |pages=258–62 |year=2012 |pmid=22470864 |pmc=3313745 |doi=10.4103/2230-8210.93745 |url=}}</ref>
*Renal complications:
**Nephrolithiasis
**Nephrolithiasis
**Nephrocalcinosis
**Nephrocalcinosis

Revision as of 20:44, 21 August 2017

Hyperparathyroidism Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Classification

Classification of hyperparathyridism
Features Primary hyperparathyroidism Secondary hyperparathyroidism Tertiary hyperparathyroidism
Pathology Hyperfunction of parathyroid cells due to hyperplasia, adenoma or carcinoma. Physiological stimulation of parathyroid in response to hypocalcaemia. Following long term physiological stimulation leading to hyperplasia.
Cause
Associations May be associated with multiple endocrine neoplasia. Usually due to chronic renal failure or other causes of Vitamin D deficiency. Seen in chronic renal failure.
Serum calcium High Low/Normal High
Serum phosphate Low/Normal High High
Management Usually surgery if symptomatic. Cincacalcet can be considered in those not fit for surgery. Treatment of underlying cause. Usually cinacalcet or surgery in those that don't respond.

Causes

Overview

Hyperparathyroidism is caused by an increase in concentration of parathyroid hormone in serum. There are three type of hyperparathyroidism including primary, secondary and tertiary hyperparathyroidism. The are an array of different causes for all types of hyperparathyroidism.

Causes of Primary hyperparathyroidism

Causes of primary hyperparathyroidism are as follows:

Common causes

  • Parathyroid adenoma
    • Usually single gland affected
    • Sometimes multiple gland affected

Less common causes

  • Parathyroid hyperplasia
  • Parathyroid carcinoma
  • Familial isloated hyperparathyroidism
  • Radiation exposure (due to development of parathyroid adenoma or parathyroid hyperplasia)
  • Celiac disease

Genetic causes

  • HRPT2 gene mutations:
    • HRPT2 gene code for parafibromin protein.
    • HRPT2 gene mutations are found in a type of familial hyperparathyroidism, hyperparathyroidism-jaw tumor (HPT-JT) syndrome.
    • HRTP2 gene mutations increases risk of parathyroid carcinoma.
  • Cyclin D1 gene (CCND1)/PRAD1 gene:
    • PRAD1 (parathyroid adenoma 1) is a protooncogene located on chromosome 11q13.
    • Cyclin D1 gene translocation and oncogene action observerd in 8% of adenomas
    • Cyclin D1 gene overexpression is pbserved in 20% to 40% of parathyroid adenomas
  • MEN1 gene:
    • MEN1 is a tumor supressor gene on chronosome 11q13.
    • Somatic loss of single MEN1 allele is observed in 25% to 40% of sporadic parathyroid adenomas.

Causes of secondary hyperparathyroidism

Causes of secondary hyperparathyroidism are as follows:

Common causes

  • Chronic renal failure (leading to parathyroid hyperplasia)
  • Vitamin D deficiency

Less common causes

  • Severe calcium deficiency
  • Gastric bypass surgery, particularly roux-en-Y gastric bypass (RYGBP)
  • Malabsorption syndrome

Causes of tertiary hyperparathyroidism

Causes of tertiary hyperparathyroidism are as follows:

Common causes

  • Chronic renal failure (leading to parathyroid hyperplasia)
  • Renal transplant patients

Less common cause

  • Long standing celiac disease


Pathogenesis

Associated conditions

  • Hypercalcemia
  • Chronic renal failure
  • Osteitis fibrous cystica
  • Osteoporosis
  • Osteomalacia
  • Osteoarthritis
  • Brown tumor
  • Multiple endocrine neoplasia type 1, type 2A, and type 4
  • Familial isolated hyperparathyroidism
  • Neonatal severe hyperparathyroidism
  • Familial hypocalciuric hypercalcemia
  • Hyperparathyroid-jaw tumor syndrome
  • Pancreatitis

Natural history, Prognosis and Complications

Natural history

  • Primary hyperparathyroidism usually develops in the fifth decade of life, in post-menopausal women and starts as asymptomatic hypercalcemia in presence of increased parathyroid hormone.
  • If left untreated, some of patients with hyperparathyroidism may develop marked hypercalcemia, marked hypercalciuria, cortical bone demineralization and nephrolithiasis.
  • These complications resolves after the treatment.
  • Untreated complication may be fatal.[1]

Complications

Complications of primary hyperparathyroidism are due to hypercalcemia. Common complications of primary hyperparathyroidism include:

  • Bone related complication:
    • Brown tumor
    • Osteitis fibrous cystica
    • Osteoarthritis
    • Osteomalacia
    • Osteoporosis
  • Cardiac complications:
    • Left ventricular hypertrophy
    • Cardiac calcific deposits in the myocardium
    • Aortic and mitral valve calcification
  • Endocrine complications:
    • Pancreatitis
    • Parathyroid crisis
  • Gastrointestinal complications:[2]
    • Peptic ulcer disease
  • Neuromuscular complications:
  • Pregnancy related complications:
    • Neonatal hypoparathyroidism
  • Psychiatric complications:
    • Depression
  • Renal complications:
    • Nephrolithiasis
    • Nephrocalcinosis

References

  1. Corlew DS, Bryda SL, Bradley EL, DiGirolamo M (1985). "Observations on the course of untreated primary hyperparathyroidism". Surgery. 98 (6): 1064–71. PMID 3878002.
  2. Corlew DS, Bryda SL, Bradley EL, DiGirolamo M (1985). "Observations on the course of untreated primary hyperparathyroidism". Surgery. 98 (6): 1064–71. PMID 3878002.