Bekende Porfirielyers in Suid-Afrlka se Belewenis van, en Kennis oor hul Siekte

Abstract

The purpose of this prospective descriptive study is to describe the symptoms that manifest in known South African porphyria patients, how they experience their illness and what experiences they have had in respect of various aspects of the condition, like diagnosis and treatment. A review of the condition is presented. The data was collected by means of a postal questionnaire and the main results are: the mean age of the respondents was 30,8 years with 78% female; 12,2% were younger than 16 years when the diagnosis was confirmed; all except one were born in South Africa; the diagnosis was confirmed by a family physician in 39,I% of cases with laboratory investigations on blood, urine and stool specimens. Clinically skin problems manifested in 62,4% of respondents and more than 50% did not know the type of porphyria they were suffering from, although 37% indicated that they were suffering from acute porphyria. Almost 55% of respondents knew what caused an acute attack and the majority consulted a physician during such an attack. Alcohol ingestion and certain known foods had a negative effect on porphyria in almost one-third of cases. Oral contraception and hormone replacement therapy did not have a significant adverse effect on porphyria and very few females experienced porphyria-related problems during pregnancy or menstruation. Deficient knowledge of the dangers associated with porphyria was identified among the respondents and this should be addressed by the family physician on primary care level in order to protect the porphyria patient against unnecessary morbidity and mortality.