Hyperphosphatemic familial tumoral calcinosis
Senast uppdaterad 18 aug 2020
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterised by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. Calcinosis usually occurs in and just under skin tissue around the joints, most often the hips, shoulders, and elbows. Calcinosis may also develop in the soft tissue of the feet, legs, and hands. Rarely, calcinosis occurs in blood vessels or in the brain and can cause serious health problems. The deposits develop over time and vary in size. Larger deposits form masses that are noticeable under the skin and can interfere with the function of joints and impair movement. These large deposits may appear tumour-like (tumoral), but they are not tumours or cancerous. The number and frequency of deposits varies among affected individuals; some develop few deposits during their lifetime, while others may develop many in a short period of time.
Beskrivning
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterised by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. Calcinosis usually occurs in and just under skin tissue around the joints, most often the hips, shoulders, and elbows. Calcinosis may also develop in the soft tissue of the feet, legs, and hands. Rarely, calcinosis occurs in blood vessels or in the brain and can cause serious health problems. The deposits develop over time and vary in size. Larger deposits form masses that are noticeable under the skin and can interfere with the function of joints and impair movement. These large deposits may appear tumour-like (tumoral), but they are not tumours or cancerous. The number and frequency of deposits varies among affected individuals; some develop few deposits during their lifetime, while others may develop many in a short period of time.
Other features of HFTC include eye abnormalities such as calcium buildup in the clear front covering of the eye (corneal calcification) or angioid streaks that occur when tiny breaks form in the layer of tissue at the back of the eye called Bruch's membrane. Inflammation of the long bones (diaphysis) or excessive bone growth (hyperostosis) may occur. Some affected individuals have dental abnormalities. In males, small crystals of cholesterol can accumulate (microlithiasis) in the testicles, which usually causes no health problems.
A similar condition called hyperphosphatemia-hyperostosis syndrome (HHS) results in increased levels of phosphate in the blood, excessive bone growth, and bone lesions. This condition used to be considered a separate disorder, but it is now thought to be a mild variant of HFTC.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
HFTC
Hyperphosphatemia hyperostosis
Hyperphosphatemia hyperostosis syndrome
Hyperphosphatemia tumoral calcinosis
Primary hyperphosphatemic tumoral calcinosis
Related patient information and medicines
Patient information leaflet
Hyperparatyreoidism
Hyperparatyreoidism occurs when too much parathyroid hormone is released by the parathyroid glands in the neck. ...hyroidism is caused by cancer in one of the parathyroid glandsHowever, in a very small number of people, it can be the result of an inherited condition called familial isolated hyperparathyroidism. Also, rarely, it may be inherited.
Patient information leaflet
Systemisk skleros
I systemic sclerosis, you can also get hardening of some of your internal organs. This stops them working normally. Systemic sclerosis cannot be cured but there are various treatments which can help. Newer treatments have improved the outlook for this condition. There are two kinds of scleroderma: Localised scleroderma (also known as morphoea)..
Patient information leaflet
Urinprov med teststicka
A urine dipstick test tests the urine using a special strip of paper that is dipped into a sample of urine. The result is available almost immediately. It is sometimes called a rapid urine test. Urine contains waste chemicals from all of the millions of chemical reactions that go on in the body all the time. However, in some conditions, chemicals.
Patient information leaflet
Kronisk lymfatisk leukemi
Chronic lymphocytic leukaemia (CLL) is a condition where you have many abnormal B lymphocyte white blood cells. What is chronic lymphocytic leukaemia. Chronic lymphocytic leukaemia (CLL) is a condition where you have many abnormal B lymphocyte white blood cells. The lymphocytes look normal under a microscope but are abnormal as they do not.
Patient information leaflet
Pemfigus vulgaris
It is rare. Pemfigus vulgaris is more serious than most other blistering skin conditions. Before treatment became available, most people with the condition used to die soon after the disease started. These diffe... Pemfigus vulgaris is the most common form of pemphigus and one of the most serious blistering skin conditions. This leaflet is only.
Patient information leaflet
BRCA-gener
There are a few known gene changes (mutations) that can increase the risk of certain cancers, and tests available for some of them, including BRCA1 och BRCA2 gene mutations. The BRCA1 and BRCA2 genes normally protect against certain cancers, particularly breast cancer and ovarian cancer. If there is a mutation in one of these genes then this may.
Vidare läsning och referenser
- Hyperphosphatemic familial tumoral calcinosis; MedlinePlus, National Library of Medicine.
- Carmichael KD, Bynum JA, Evans EB. Familial tumoral calcinosis: a forty-year follow-up on one family. J Bone Joint Surg Am. 2009 Mar 1;91(3):664-71. doi: 10.2106/JBJS.G.01512.
- Chefetz I, Sprecher E. Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. Biochim Biophys Acta. 2009 Sep;1792(9):847-52. doi: 10.1016/j.bbadis.2008.10.008. Epub 2008 Oct 25.
- Farrow EG, Imel EA, White KE. Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and alphaKlotho). Best Pract Res Clin Rheumatol. 2011 Oct;25(5):735-47. doi: 10.1016/j.berh.2011.10.020.
- Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M, Malandrinou FCh, Singhellakis PN, Le Merrer M, Econs MJ. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337.
- Sprecher E. Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. J Invest Dermatol. 2010 Mar;130(3):652-60. doi: 10.1038/jid.2009.337. Epub 2009 Oct 29.
- Yancovitch A, Hershkovitz D, Indelman M, Galloway P, Whiteford M, Sprecher E, Kilic E. Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. J Bone Miner Metab. 2011 Sep;29(5):621-5. doi: 10.1007/s00774-011-0260-1. Epub 2011 Feb 25.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Aug 2012 | Ursprungligen publicerad
Delta i konversationen
Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
Genom att prenumerera accepterar du våra Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.