The need for continuous quality assessment for providing optimal comprehensive care for patients with alpha-1 antitrypsin deficiency

Background: Alpha-1-antitrypsin deficiency (AATD) is an orphan disease that mainly affecting the liver and the lung. This creates difficulties to ensure that comprehensive care is administered to both organ systems. Past assessments of care delivered to patients with AATD demonstrated that improvements are needed. For that reason, we reassessed a population of patients with AATD in a large health care system to see if past findings affected present care. Methods: We performed electronic health record (EHR) reviews on all patients with documented AATD and confirmed the diagnosis by evidence of genotyping. We then selected the patients with the ZZ genotype to review comprehensive care. We further compared the findings in patients treated by different specialists (allergy immunology, gastroenterology, and pulmonary). The data were captured and assessed by using a secure web application for building and managing online surveys and data bases. REDCap. Results: We found a total of 329 patients with diagnostic codes for AATD, of these, 203 patients had a confirmed abnormal genotype. Confirmed genotypes were MZ (n = 69), ZZ (n = 48), MS (n = 22), SZ (n = 22). Further focus was applied to the care of the ZZ population secondary to a predisposition to potential severe lung and liver disease. The findings suggest that care can be improved no matter which specialist cares for the patient. Conclusion: Our study demonstrated that all three subspecialty groups had room for improvement in providing care to patients with AATD. Our study further demonstrated the need for recurrent quality-assurance programs that may be aided by care suggestions built into the EHR.

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Intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous ZZ alpha-1 antitrypsin deficiency

BMJ Case Reports ◽

10.1136/bcr-2020-240077 ◽

2021 ◽

Vol 14 (3) ◽

pp. e240077

Author(s):

Nienke E Vuurberg ◽

Anne Loes Van den Boom ◽

Marius C Van den Heuvel ◽

Joost M Klaase

Keyword(s):

Hepatocellular Carcinoma ◽

Intrahepatic Cholangiocarcinoma ◽

Associated Factors ◽

Genetic Disorder ◽

Cirrhotic Liver ◽

Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin ◽

Severe Lung Disease ◽

Severe Lung

Alpha-1 antitrypsin (AAT) deficiency, which is an under-recognised metabolic genetic disorder, is known to cause severe lung disease and liver cirrhosis in about 10%–15% of cases. Patients with AAT deficiency are at a higher risk for developing hepatocellular carcinoma, both in cirrhotic and in non-cirrhotic livers. In this case report, a 48-year-old woman with homozygous ZZ AAT deficiency presented with abdominal pain, and by imaging, an abnormal area in the liver was found. The initial differential diagnosis consisted of benign abnormalities but a malignancy could not be ruled out. Finally, this abnormality turned out to be an intrahepatic cholangiocarcinoma (iCCA) in a non-cirrhotic liver. Since this type of tumour has been very infrequently described to be associated with AAT deficiency, the question remains whether alpha-1 trypsin accumulation in the hepatocytes was responsible for the development of iCCA. However, other associated factors for developing an iCCA were ruled out.

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