TY - JOUR
T1 - Hereditær hæmoragisk telangiektasi
AU - Nanthan, Kumanan Rune
AU - Tørring, Pernille M
AU - Kjeldsen, Jens
AU - Fialla, Annette
AU - Lange, Bibi
AU - Nielsen, Troels Halfeld
AU - Kofoed, Mikkel Seremet
AU - Haahr, Pernille Darre
AU - Jørgensen, Gitte Maria
AU - Kjeldsen, Anette Drøhse
PY - 2025/6/2
Y1 - 2025/6/2
N2 - Hereditary haemorrhagic telangeiectasia (HHT) is an autosomal dominant hereditary disease, which affects 15.6/100,000 people in Denmark. In this review, we summarize the current Danish practice on screening, diagnosis, treatment and outpatient control of HHT patients, put an emphasis on the importance of proper screening and treatment of HHT-associated anaemia, and address the latest addition of biological treatment and advances in genetic sequencing to be utilized in HHT.
AB - Hereditary haemorrhagic telangeiectasia (HHT) is an autosomal dominant hereditary disease, which affects 15.6/100,000 people in Denmark. In this review, we summarize the current Danish practice on screening, diagnosis, treatment and outpatient control of HHT patients, put an emphasis on the importance of proper screening and treatment of HHT-associated anaemia, and address the latest addition of biological treatment and advances in genetic sequencing to be utilized in HHT.
U2 - 10.61409/V11240781
DO - 10.61409/V11240781
M3 - Tidsskriftartikel
SN - 0041-5782
JO - Ugeskrift for Læger
JF - Ugeskrift for Læger
M1 - V11240781
ER -