[Adult-onset rare diseases].

Area of Science:

• Medicine
• Genetics
• Rare Diseases

Background:

• Rare diseases often manifest in late childhood or adulthood.
• These conditions encompass non-genetic causes (infections, autoimmune diseases, tumors, toxins) and genetic disorders.
• A significant portion of rare genetic disorders present in adulthood, affecting multiple medical specialities.

Purpose of the Study:

• To highlight the prevalence and scope of rare diseases in adult populations.
• To emphasize the diverse origins and medical specialities involved in adult rare diseases.

Main Methods:

• Review of existing literature and case studies on rare diseases.
• Categorization of rare diseases based on etiology (genetic vs. non-genetic) and age of onset.
• Analysis of medical specialities impacted by adult-onset rare diseases.

Main Results:

• At least half of the 6,000-8,000 rare diseases affect adults.
• Examples of adult-onset genetic disorders include storage disorders, enzyme deficiencies, thrombophilias, and monogenic disorders like Huntington's chorea.
• Adult rare diseases fall under adult-care specialities (internal medicine, neurology) or age-neutral fields (ophthalmology, dermatology).

Conclusions:

• Rare diseases represent a substantial burden on adult healthcare.
• A comprehensive understanding of rare diseases across different medical fields is crucial for effective diagnosis and management.
• The classification and recognition of adult-onset rare diseases require interdisciplinary collaboration.