Das Deutsche Register für Personen mit Alpha-1-Antitrypsin-Mangel – eine Ressource für die Versorgungsforschung

Koczulla, Rembert; Bittkowski, N.; Andress, Jürgen; Greulich, Timm; Schroth, S.; Kotke, Viktor; Vogelmeier, Claus; Bals, Robert

doi:10.1055/s-2008-1038263

Cited by 14 publications

(4 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…10 In recent decades, a number of countries across the EU and worldwide have implemented registries for AATD. 2,[11][12][13][14][15][16][17] They differ widely in their goals, inclusion criteria and follow-up procedures. The development of registries for AATD will a) address many of the gaps in our knowledge of the disorder, b) facilitate understanding of the natural history of AATD, c) promote patient education and dissemination of information, d) facilitate clinical and basic science research of the disease in (and across) countries, and e) foster international collaboration through research initiatives.…”

Section: Principles Of Care 1 the Importance Of Registriesmentioning

confidence: 99%

Alpha-1 Antitrypsin Deficiency: Principles of Care

et al. 2020

View full text Add to dashboard Cite

Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and liver disease. There is currently no cure for alpha-1 antitrypsin deficiency. However, appropriate treatment and a high standard of clinical care can prevent patients from being seriously affected and having to undergo major medical interventions, such as organ transplantation. Beyond managing the symptoms associated with alpha-1 antitrypsin deficiency, alpha-1 proteinase inhibitor therapy is the only treatment for the condition’s underlying cause. Early diagnosis is important to ensure efficient therapeutic strategies and to minimize further deterioration of lung function. alpha-1 antitrypsin deficiency is under diagnosed globally, partly because the disease has no unique presenting symptoms. This document was prepared by a Portuguese multidisciplinary group and it aims to set out comprehensive principles of care for Alpha-1 antitrypsin deficiency. These include the importance of registries, the need for clinical research, the need for consistent recommendations (regarding diagnosis, treatment and monitoring), the role of reference centres, the requirement for sustained access to treatment, diagnostic and support services, and the role of patient organizations.

show abstract

Section: Principles Of Care 1 the Importance Of Registriesmentioning

confidence: 99%

Alpha-1 Antitrypsin Deficiency: Principles of Care

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Although accessible, inexpensive, and straightforward testing procedures are available, both liver and lung disease due to AAT deficiency are underdiagnosed. Even for those who are diagnosed, there is often a long delay, while the vast majority are never diagnosed at all [3, 21, 36, 37]. There is still a lack of awareness of AAT deficiency-related liver and lung disease among the medical community [38-40].…”

Section: Reasons For the Under-recognition Of Aat Deficiency And The mentioning

confidence: 99%

Alpha1-Antitrypsin Deficiency: Transition of Care for the Child With AAT Deficiency into Adulthood

Lin

Kasi²,

Quiros³

2019

CPR

View full text Add to dashboard Cite

Importance: Alpha1-antitrypsin (AAT) deficiency is a common, but an underdiagnosed genetic condition, affecting 1 in 1500 individuals. It can present insidiously with liver disease in children. Although clinical practice guidelines exist for the management of AAT deficiency, especially with regards to pulmonary involvement, there are no published recommendations that specifically relate to the management of the liver disease and monitoring for lung disease associated with this condition, particularly in children.Objective: To review the literature on the management of AAT deficiency-associated liver disease in adults and children.Evidence Review: A systematic search for articles indexed in PubMed and published was undertaken. Some earlier selected landmark references were included in the review. Search terms included: “alpha1-antitrypsin deficiency”; “liver disease”; “end-stage liver disease”; “liver transplantation” and “preventative management”. Recommendations for the management of children with suspected or confirmed AAT deficiency were made according to the Strength of Recommendation Taxonomy scale.Findings: Liver complications arising from AAT deficiency result from the accumulation of mutated AAT protein within hepatocytes. Liver disease occurs in 10% of children, manifested by cholestasis, pruritus, poor feeding, hepatomegaly, and splenomegaly, but the presentation is highly variable. A diagnostic test for AAT deficiency is recommended for these children. Baseline liver function tests should be obtained to assess for liver involvement; however, the only curative treatment for AAT deficiency-associated liver disease is organ transplantation.Conclusion and Relevance: There should be a greater vigilance for AAT deficiency testing among pediatricians. Diagnosis should prompt assessment of liver involvement. Children with AATdeficiency-associated liver disease should be referred to a liver specialist and monitored throughout their lifetimes for the symptoms of AAT-deficiency-related pulmonary involvement.

show abstract

“…AAT [11,30]. Auch die Anbindung an Selbsthilfegruppen ist für Patienten ein wichtiger Schritt, um schnell mit anderen Betroffenen in Kontakt zu kommen (• " Tab.…”

Section: Genotypunclassified