Practice and knowledge about diagnosis and treatment of alpha-1 antitrypsin deficiency in Spain and Portugal

Abstract

BackgroundDetermining physicians’ awareness about alpha-1 antitrypsin (AAT) deficiency (AATD) may help to explain the discrepancy between the observed and expected number of patients diagnosed with this disease.This study was designed to assess the opinions on knowledge, practice pattern and attitude regarding AATD among physicians in Spain and Portugal.MethodsAn online anonymous survey was performed on pulmonologists (n = 100), internal medicine specialists (IMS) (n = 100) and primary care physicians (PCP) (n = 176). Of the total number of physicians, 221 were from Spain, and 155 were from Portugal. Physicians answered 21 questions related to their personal and professional profile, knowledge regarding AATD and chronic obstructive pulmonary disease (COPD), performance and attitude about AATD, and use of augmentation therapy. Responses were ranked on a 4-point scale indicating the level of agreement. In addition, some of the responses were rated as either “low” or “high” indicating the level of knowledge the respondent felt he/she possessed.ResultsOnly 14 % of physicians reported to “know very well” about AATD (3.3 [SD 0.6] for pulmonologists vs. 2.64 [SD 0.60] for IMS and 2.48 [SD 0.71] for PCP; p < 0.001). Only 45.2 % of physicians correctly answered “<50 mg/dL” as the threshold value of serum AAT to be considered severe AATD (55.0 % of pulmonologists vs. 47.0 % of IMS and 38.6 % of PCP; p = 0.001). Choice of the correct answer did not agree with those physicians self-declaring a high level of AATD knowledge (51.2 %). A total of 43.9 % of physicians correctly identified all diseases or conditions in a list associated or not with AATD. A similar trend was detected when identifying which conditions would be responsive to augmentation therapy (<50 %). Only 15.8 % of specialists performed AATD testing in all patients with COPD (27.0 % pulmonologists, 12.6 % PCP; p = 0.001).ConclusionThe results suggest that a knowledge gap may be contributing to the underdiagnosis of AATD. Physicians in Spain and Portugal showed a marked lack of awareness of their shortcomings in knowledge about AATD, and in general did not follow guidelines and recommendations for AATD testing.

Clinical considerations in individuals with α1-antitrypsin PI*SZ genotype

“…National and international guidelines recommend that all patients with COPD, non-reversible asthma and unexplained liver disease should be tested for AATD [4,12,70,71]. Despite these recommendations, identification of AATD remains low due to a continued lack of disease awareness and poor adherence to testing recommendations [72,73]. It has been suggested that this reflects the erroneous perception of high costs associated with testing [12,72].…”

“…Despite these recommendations, identification of AATD remains low due to a continued lack of disease awareness and poor adherence to testing recommendations [72,73]. It has been suggested that this reflects the erroneous perception of high costs associated with testing [12,72]. Measures such as the cost-effective detection programme set up by the Spanish Registry of Patients with AATD may help to alleviate this concern and improve diagnosis [72].…”

<p>New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency</p>

“…There is evidence to suggest that primary care physicians in particular have low awareness/knowledge of AATD, and do not always follow fundamental recommendations such as testing all newly diagnosed COPD patients for AATD. 13 Underpinning this issue is continued low awareness of the disease, and this is an area that ERN-LUNG and EARCO will endeavor to address through raising the profile of AATD and by connecting specialist and non-specialist physicians.…”

“…12 This may result from reluctance of the patient to seek medical attention, lack of health care practitioner awareness, and failure to conduct AATD testing when warranted. 5,[13][14][15][16] A recent study from the United Kingdom (UK) found that only~2% of COPD patients diagnosed at <60 years had undergone any form of AATD testing. 16 Because of this, efforts to increase disease awareness and testing rates are ongoing.…”

Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples

“…Although AAT deficiency is the most common hereditary disease diagnosed in adults, there is a generalized lack of knowledge in the medical community about this disorder [10,11]. Many physicians are not aware that pulmonary conditions, such as chronic obstructive pulmonary disease or liver disease may actually be due to AATD [11]. Panniculitis is another clinical manifestation of AATD and may also be significantly underdiagnosed [4].…”