Familial hipercholesterolemia - pathogenesis, clinic and management
Journal Title: Przewodnik Lekarza - Year 2006, Vol 85, Issue 3
Abstract
Familial hypercholesterolemia (FH) is a genetic disorder, which occurs in two forms, as homozygous FH with frequency 1/1 000 000 persons or heterozygous FH with frequency 1/500 persons, what makes about 78 000 cases in Poland. The lack of LDL receptors or deficiency of half of LDL receptors, due to various mutations of genes encoding the proteins of these receptors, is responsible for homozygous FH or heterozygous FH respectively. Familial FH is a very strong risk factor for premature CHD. The diagnosis of this disorder is based on high LDL cholesterol level in the patient and his close relatives. Additionally xanthomata, particularly of tendon, are present in some cases. Strong statins are drugs of choice for heterozygous FH treatment. Atorvastatin in a daily dose of 80 mg and rosuvastatin (not registered in Poland) are particularly recommended. In future the combination therapy with statins and ezetimibe (still not available in Poland) may be an option. LDL-apheresis at 1 to 2 weekly intervals is the best method of treatment of homozygous FH. For all the time patients should be treated with a strong statin.
Authors and Affiliations
Longina Kłosiewicz-Latoszek, Barbara Cybulska
Aneurysms of the aorta and peripheral arteries
Aneurysms are segmental dilatations of the artery wall that cause the vessel to be larger than 1.5 times its normal diameter. It is quite often diagnosis, especially in older patients. Most of the artery dilatation is...
Zespół Tourette’a
Zespół Tourette’a po raz pierwszy został opisany w 1885 r. jako zaburzenie układu nerwowego, charakteryzujące się nieskoordynowanymi ruchami, z towarzyszącą echolalią i koprolalią przez Georgesa Alberta Édouarda Brutusa...
Diagnostics of coronary heart disease in patients with diabetes mellitus
Diabetes mellitus is a well known risk-factor of development of atherosclerosis. Specific features of coronary heart disease in diabetic patients are early manifestation of disease, oligosymptomatic course, different a...
Social idea of rationalization of people with movement organs disfunction
In Poland such as in other countries we can see that the number of disability people is growing. Disabilition is a particular social problem. Essential factor which assigns its rank is a number of this people. Today it...
Równoprawne partnerstwo. VIII Kongres Europejskiego Towarzystwa Medycyny Seksualnej w Kopenhadze, 4–7 grudnia 2005 r.