Familial hypocalciuric hypercalcemia natural history, complications and prognosis: Difference between revisions
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{{Familial hypocalciuric hypercalcemia}} | {{Familial hypocalciuric hypercalcemia}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{Ajay}} | ||
==Overview== | ==Overview== | ||
Patients with [[familial hypocalciuric hypercalcemia]] are [[asymptomatic]] but rarely can present with [[signs]] and [[symptoms]] of [[hypercalcemia]]. Very rarely [[familial hypocalciuric hypercalcemia]] can cause complications such as [[pancreatitis]], [[gallstones]], [[chondrocalcinosis]]. [[Prognosis]] is excellent and patients with FHH have a normal [[lifespan]]. | |||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
===Natural History=== | ===Natural History=== | ||
Patients with [[familial hypocalciuric hypercalcemia]] are [[asymptomatic]] but rarely can present with [[signs]] and [[symptoms]] of [[hypercalcemia]].<ref name="pmid20059346">{{cite journal |vauthors=Whitcomb DC |title=Genetic aspects of pancreatitis |journal=Annu. Rev. Med. |volume=61 |issue= |pages=413–24 |year=2010 |pmid=20059346 |doi=10.1146/annurev.med.041608.121416 |url=}}</ref> | |||
===Complications=== | ===Complications=== | ||
* | * The complications associated with primary [[hyperparathyroidism]], like [[osteopenia]] and [[nephrolithiasis]], is not increased in persons with [[benign]] [[familial hypocalciuric hypercalcemia]], and the rates are similar to those in the general population. | ||
**[ | * Rarely, a severe form of this disease, [[neonatal]] severe primary [[hyperparathyroidism]] is seen in infants with [[homozygous]] CASR mutations.<ref name="pmid21478088">{{cite journal |vauthors=Varghese J, Rich T, Jimenez C |title=Benign familial hypocalciuric hypercalcemia |journal=Endocr Pract |volume=17 Suppl 1 |issue= |pages=13–7 |year=2011 |pmid=21478088 |doi=10.4158/EP10308.RA |url=}}</ref> | ||
**[ | * Very rarely FHH is associated with:<ref name="pmid7311809">{{cite journal |vauthors=Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW, Lasker RD |title=The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds |journal=Medicine (Baltimore) |volume=60 |issue=6 |pages=397–412 |year=1981 |pmid=7311809 |doi= |url=}}</ref><ref name="pmid3977197">{{cite journal |vauthors=Law WM, Heath H |title=Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families |journal=Ann. Intern. Med. |volume=102 |issue=4 |pages=511–9 |year=1985 |pmid=3977197 |doi= |url=}}</ref><ref name="pmid2673770">{{cite journal |vauthors=Heath H |title=Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of mild primary hyperparathyroidism |journal=Endocrinol. Metab. Clin. North Am. |volume=18 |issue=3 |pages=723–40 |year=1989 |pmid=2673770 |doi= |url=}}</ref> | ||
**[ | **[[Pancreatitis]] | ||
**[[Chondrocalcinosis]] | |||
**[[Gallstones]] | |||
===Prognosis=== | ===Prognosis=== | ||
[[Prognosis]] is good with a [[lifespan]] similar to the general population, in patients with [[familial hypocalciuric hypercalcemia]].<ref name="urlFamilial Benign Hypercalcemia (Hypocalciuric Hypercalcemia)Clinical and Pathogenetic Studies in 21 Families | Annals of Internal Medicine | American College of Physicians">{{cite web |url=http://annals.org/aim/article/699553 |title=Familial Benign Hypercalcemia (Hypocalciuric Hypercalcemia)Clinical and Pathogenetic Studies in 21 Families | Annals of Internal Medicine | American College of Physicians |format= |work= |accessdate=}}</ref> | |||
==References== | ==References== | ||
Latest revision as of 15:11, 16 October 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ajay Gade MD[2]]
Overview
Patients with familial hypocalciuric hypercalcemia are asymptomatic but rarely can present with signs and symptoms of hypercalcemia. Very rarely familial hypocalciuric hypercalcemia can cause complications such as pancreatitis, gallstones, chondrocalcinosis. Prognosis is excellent and patients with FHH have a normal lifespan.
Natural History, Complications, and Prognosis
Natural History
Patients with familial hypocalciuric hypercalcemia are asymptomatic but rarely can present with signs and symptoms of hypercalcemia.[1]
Complications
- The complications associated with primary hyperparathyroidism, like osteopenia and nephrolithiasis, is not increased in persons with benign familial hypocalciuric hypercalcemia, and the rates are similar to those in the general population.
- Rarely, a severe form of this disease, neonatal severe primary hyperparathyroidism is seen in infants with homozygous CASR mutations.[2]
- Very rarely FHH is associated with:[3][4][5]
Prognosis
Prognosis is good with a lifespan similar to the general population, in patients with familial hypocalciuric hypercalcemia.[6]
References
- ↑ Whitcomb DC (2010). "Genetic aspects of pancreatitis". Annu. Rev. Med. 61: 413–24. doi:10.1146/annurev.med.041608.121416. PMID 20059346.
- ↑ Varghese J, Rich T, Jimenez C (2011). "Benign familial hypocalciuric hypercalcemia". Endocr Pract. 17 Suppl 1: 13–7. doi:10.4158/EP10308.RA. PMID 21478088.
- ↑ Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW, Lasker RD (1981). "The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds". Medicine (Baltimore). 60 (6): 397–412. PMID 7311809.
- ↑ Law WM, Heath H (1985). "Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families". Ann. Intern. Med. 102 (4): 511–9. PMID 3977197.
- ↑ Heath H (1989). "Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of mild primary hyperparathyroidism". Endocrinol. Metab. Clin. North Am. 18 (3): 723–40. PMID 2673770.
- ↑ "Familial Benign Hypercalcemia (Hypocalciuric Hypercalcemia)Clinical and Pathogenetic Studies in 21 Families | Annals of Internal Medicine | American College of Physicians".