Implementing a screening program for acromegaly in Latin America: necessity versus feasibility

Abstract

IntroductionAcromegaly is a rare disease with a large burden due its associated comorbidities and the life-long management required. Since the occurrence and severity of associated complications are related to length of exposure to the excess growth hormone seen in acromegaly, early diagnosis is imperative. The delay in diagnosis, however, can be long, and may be the result of a lack of disease awareness and screening programs. Since acromegaly is an uncommon disease, finding ways to increase recognition and diagnosis that would permit early detection in a logical and cost-effective manner could be a challenge.MethodsWe conducted a retrospective literature review for information relating to the screening and diagnosis of acromegaly using PubMed. The aim was to assess whether an acromegaly-screening program in Latin America (and elsewhere) would be both of use and be feasible.Findings and conclusionsAn earlier diagnosis allows earlier initiation of treatment, such as surgery and/or drugs, which leads to more successful disease management (biochemical control) and better outcomes. Since the delay in diagnosis can be long, we believe that clear opportunities exist for earlier (and increased) detection of acromegaly. This can be achieved by increasing disease awareness for earlier recognition of symptoms and by using targeted screening (rather than mass screening) programs.

Carpal tunnel syndrome in acromegaly: a nationwide study

“…The long diagnostic delay in acromegaly, which has not improved sufficiently in recent decades, has created an interest for acromegaly screening in groups of patients with acromegaly-related comorbidities (4,13,37,38,39). The diagnostic delay appears to be longer in women with acromegaly who present with more advanced disease at the time of diagnosis (40).…”

Patient-Identified Problems and Influences Associated With Diagnostic Delay of Acromegaly: A Nationwide Cross-Sectional Study

“…On the doctors' side, those who lack specialty in this area should consider recording proper and comprehensive notes of the clinical manifestations reported by the patients or those discovered during clinical examinations for the reference of patients' future consultations, even if the diagnosis could not be reached at that moment. In addition, the development of rapid clinical case-finding tools, either using traditional methods or artificial intelligence (17,(24)(25)(26), could help doctors identify potential acromegaly from their comorbidities or symptoms.…”

“…These suboptimal pre-diagnostic advices provided by doctors reflected a lack of awareness related to acromegaly across different specialties in the medical community ( 8 , 17 ). According to the patients in this survey, the main reasons for misdiagnosis included insufficient specialists; limited awareness and knowledge of acromegaly in doctors, especially in those who are non-specialists; poor communications between doctors and patients; and a lack of information sources for hospitals or doctors with this specialty.…”

Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition?

“…for alpha-1-antitrypsin deficiency in COPD patients [34]. For individuals with acromegaly, the framework of a screening program in Latin America was described by Danilowicz et al [35]. In acromegaly patients, the delay in diagnosis is common and results in increased morbidity and mortality, whereas timely treatment would improve health and quality of life.…”