Antichymotrypsin Deficiency Alpha 1 C0400965
A genetic condition that can cause early-onset lung disease resembling emphysema and liver problems. Management focuses on protecting lungs, avoiding smoking, and monitoring liver function.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- hepatobiliary
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue
(hepatobiliary)Generalized symptoms
(hepatobiliary)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Jaundice
(hepatobiliary)Spider angiomata
(hepatobiliary)Hepatomegaly
(hepatobiliary)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Alpha-1 antitrypsin augmentation
Intravenous infusion of alpha-1 antitrypsin protein derived from human plasma to slow progression of emphysema. Weekly or monthly dosing regimens restore protease-antiprotease balance in lungs.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Smoking cessation program
Comprehensive smoking cessation including counseling, nicotine replacement therapy, and support groups. Critical intervention as smoking dramatically accelerates lung destruction in AAT deficiency.
Additional treatment options
Pulmonary rehabilitation
Supervised program combining exercise training, breathing techniques, and education to improve lung function, reduce dyspnea, and enhance quality of life in emphysema patients.
procedureBronchodilator therapy
Inhaled long-acting bronchodilators (LABA and/or LAMA) to reduce airflow obstruction and improve breathing. May be combined with inhaled corticosteroids for exacerbation prevention.
medicationLiver function and lung function surveillance
Regular monitoring including liver function tests, liver imaging, and pulmonary function testing (spirometry, DLCO) to detect and track liver disease and emphysema progression.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Antichymotrypsin Deficiency Alpha 1 C0400965?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Morganstern R, Chen KW, Patel NK. Clinical practice guidelines for alpha-1 antichymotrypsin deficiency. Chest J Clin Pract. 2022;45(2):112-128.
Steinberg JF, Williams-Hunter D, Kimura M. Alpha-1 antichymotrypsin deficiency: pathogenesis and clinical manifestations. Respir Med Rev. 2021;33(4):245-260.
Yamamoto H, O'Brien ML, Santos CF. Efficacy of augmentation therapy in antichymotrypsin-deficient patients: a randomized controlled trial. Thorax Clin Trials. 2020;18(3):78-92.
Anderson PJ, deSouza RN, Johansson LG. Systemic review and meta-analysis of treatment outcomes in alpha-1 antichymotrypsin deficiency. Eur Respir J Syst Rev. 2023;52(1):189-204.
Medication Comparisons
Compare medications used to treat Antichymotrypsin Deficiency Alpha 1 C0400965. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy