Journal of Genetic Syndromes & Gene Therapy
Open Access

The prevalence of rare diseases in the population of hospitalized patients

2^nd World Congress on Rare Diseases and Orphan Drugs

June 29-30, 2017 London, UK

Karina Levina

Latvian University, Latvia

Posters & Accepted Abstracts: J Genet Syndr Gene Ther

Abstract :

Rare diseases are life-threatening or chronically debilitating diseases with a low prevalence but a high level of complexity. In European Union as well as in Latvia disease is considered rare if it affects 5 out of 10000 (1 out of 2000) people. There are approximately 2 million people living in Latvia at the moment, in this way disease in our country is considered rare if less than 1000 people are affected by the disease. Due to fact that there is no unified rare disease accounting system in Latvia, as well as rare endocrine disease register, such patients as well as their disease incidence and diagnosis trends analysis are unrecorded. With this said most probably there are numerous undiagnosed rare endocrine disease cases in Latvia. Aim of the work: Analize rare endorcine disease patient amount and flow in PSKUS in a five year period. Determine the incidence of rare endocrine disease among stationed patients. Materials and methods: Retrospective descriptive study was performed at Pauls Stradins Clinical University hospital (PSKUS) endocrine center. Rare endocrine disease list was made using In 2011 ��? 2015 time period 154 patients of 163 diagnosis with 30 rare endocrine diseases were selected.Patient��?s data suffering from rare endocrine diseases was analized by age, gender, incidence, duration of hospitalization and year of hospitalization. Obtained data was grouped and statistically processed using Microsoft Office Excel 2013 and IBM Statistical Package for social science (SPSS) statistics 22 program. Results: 113 (73%) of 154 rare endocrine disease patients were women meanwhile 41 (27%) were male. The average patient��?s age was 54 years in an age range from 19 to 90 years old. Following diseases were found among endocrinology hospital stationed patients: acromegaly (35 patients, 22,7% out of all selected rare diseases), follicular thyroid cancer (20 patients, 13,0%), pheochromocytoma (16 patients, 10,4%). Amount of women suffering from acromegaly was 27 (23,7%) meanwhile men with acromegaly were 8 patients (7,0%). 18 women (15,8%) and 2 men (1,8%) had follicular thyroid cancer. Computed theoretically expected patients amount with rare endocrine diseases was 75 patients with acromegaly, 16 patients with follicular thyroid cancer and about 284 patients suffering from pheochromocytoma could be treated in other hospitals in Latvia or were not diagnosed at all.

Biography :

Karina Levina is the Latvian University Medical Faculty Graduate. She devoted her thesis to rare endocrine diseases. Starting from 2017, she is an active member of Latvian Rare Disease Specialist Association. She gathered information on rare diseases which will help patient treatment planning, diagnose and rehabilitation as well as gives basis for further studies.

Email: karinechka@inbox.lv