Adult-onset rare diseases

• Published in: Orvosi hetilap Vol. 155; no. 9; p. 334
• Main Authors: Pfliegler, György, Kovács, Erzsébet, Kovács, György, Urbán, Krisztián, Nagy, Valéria, Brúgós, Boglárka
• Format: Journal Article
• Language: Hungarian
• Published: Hungary 02.03.2014
• Subjects: Adolescent; Adult; Age of Onset; Aged; Autoimmune Diseases - diagnosis; Child; Delayed Diagnosis; Diagnostic Errors; Genetic Diseases, Inborn - diagnosis; Humans; Hungary - epidemiology; Infection - diagnosis; Lysosomal Storage Diseases - diagnosis; Middle Aged; Neoplasms - diagnosis; Polyarteritis Nodosa - diagnosis; Prevalence; Rare Diseases - diagnosis; Rare Diseases - epidemiology; Rare Diseases - etiology; Rare Diseases - genetics; Rare Diseases - immunology; Hungary; rare diseases; felnőtt formák; adult-onset; ritka betegségek; örökletes; inherited
• ISSN: 0030-6002
• DOI: 10.1556/OH.2014.29857

The present paper is focusing on rare diseases manifesting in late childhood or adulthood. A part of these syndromes are not of genetic origin, such as relatively or absolutely rare infections, autoimmune diseases, tumours, or diseases due to rare environmental toxic agents. In addition, even a large proportion of genetic disorders may develop in adulthood or may have adult forms as well, affecting are almost each medical specialization. Examples are storage disorders (e.g. adult form of Tay-Sachs disease, Gaucher-disease), enzyme deficiencies (e.g. ornithin-transcarbamylase deficiency of the urea cycle disorders), rare thrombophilias (e.g. homozygous factor V. Leiden mutation, antithrombin deficiency), or some rare monogenic disorders such as Huntington-chorea and many others. It is now generally accepted that at least half of the 6-8000 "rare diseases" belong either to the scope of adult-care (e.g. internal medicine, neurology), or to "age-neutral" specialities such as ophtalmology, dermatology etc.).