Author/Editor		Kmecl, Tanja; Arzenšek, Jože; Benedičič, Ana
Title		Primarni dedni linfedem - klinični primer
Type		članek
Source		In: Miljković J, editor. Strokovno srečanje z mednarodno udeležbo 3. dermatološki dnevi; 2005 nov 11-12; Maribor. Maribor: Splošna bolnišnica Maribor,
Publication year		2005
Volume		str. 73-81
Language		slo
Abstract		Background. Primary hereditary lymphoedema is a rare hereditary disease of lymphatic system, which is represented by abnormal swelling particularly of the lower extremity. It can be present at birth, appear at puberty or in the third decade of life. It results from a congenital abnormality of the lymphatic system, that is connected to genetic disorders which still haven't been completely researched. The diagnosis is based on clinical history and physical examination, but the most important diagnostic tool to confirm primary lymphoedema is lymphoscintigraphy. Good cooperation of the patient during the treatment is very important. Patients and methods. We are presenting a family of patients with primary hereditary lymphoedema, where five out of seven children are affected. The diagnosis was established clinically, and confirmed by a dye test. Other diagnostic methods were done to exclude other possible causes of the condition, as well as a family inquiry. Patients were treated conservatively with a compression therapy and lymphatic drainage. We have begun working on their pedigree. Conclusions. Treating the patients with hereditary lymphoedema, the conservative therapy with the short-stretch bandages and lymphatic drainage was shown as a successful method for reducing lymphoedema of the lower extremity. To sustain the condition and to prevent complications, a lifelong treatment with compression stockings and occasionally lymphatic drainage will be necessary. In the near future good results with the molecular researches are expected in order to detect the casual genetic mutations. We expect also the genetic treatment to be available in the future.
Descriptors		LYMPHEDEMA MEIGE SYNDROME