The General Hospital of Alicante, a Benchmark in Rare Diseases with Over 1,600 Consultations in the Last Year

The Multidisciplinary Unit for Low Prevalence Diseases at the Doctor Balmis University General Hospital celebrates its first year as a reference unit in the province of Alicante for the diagnosis and treatment of adult patients with rare diseases. This unit, along with those at La Fe Hospital in Valencia and General Hospital of Castelló de la Plana, are the three accredited in the Valencian Community by the Department of Health.

This recognition is in addition to the certification as a center of excellence for care, teaching, and research of rare diseases in 2020 by the Spanish Society of Internal Medicine (SEMI).

This unit, led by Dr. Rosario Sánchez and attached to the Internal Medicine Service headed by Dr. Joaquín Portilla, has attended more than 1,600 consultations in the last year. Since its opening in 2008, more than 1,400 adults with diagnosis or suspected diagnosis of a rare disease have received clinical follow-up in collaboration with other specialists through multidisciplinary work as required by each pathology.

"Our mission is to facilitate accessibility and manage comprehensive healthcare for people affected by rare diseases, minority or low prevalence diseases in collaboration with associations of affected individuals, with the vision of offering high-quality, efficient, and resolutive healthcare services under a model that quickly responds to the specific needs of each patient," said Dr. Rosario Sánchez.

Specifically, to improve accessibility, a project has been approved for improving infrastructure and facilities, which includes the upcoming creation of a new multipurpose shared consultation space for assisting patients with rare diseases and ALS who require multidisciplinary evaluation due to their complexity. This will facilitate single-act consultations, patient comfort while waiting for consultation, and the use of new technologies through telemedicine consultations.

In the 16 years this resource has been active, more than 10,000 outpatient consultations for over 100 different pathologies have been attended. To name a few, hereditary collagen diseases (Ehlers Danlos and Marfan), Rendu-Osler-Weber syndrome or HHT (hereditary hemorrhagic telangiectasia), metabolic diseases (Porphyria, Wilson's disease, and Fabry disease), autoimmune diseases (sarcoidosis), and immunodeficiencies are addressed among others.

The number of patients and consultations has progressively increased over recent years; hence Dr. Pablo Oteo, an Internal Medicine specialist, has recently joined the unit for specialized care and patient care coordination. In addition to attending outpatient consultations and inter-consultations received from other professionals, patients are attended to in day hospitals and hospitalization.