Acd Related Short Telomere Syndrome Cn377753
A genetic condition causing abnormally short telomeres, leading to premature organ damage and failure, particularly affecting lungs and bone marrow. It typically runs in families. Management requires coordinated care from multiple specialists.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- other
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(other)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Mucocutaneous telangiectasias
(integumentary)Bone marrow failure
(hematologic)Pulmonary fibrosis
(respiratory)Liver cirrhosis
(gastrointestinal)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Pulmonary Function Surveillance
Regular monitoring of lung function through spirometry and high-resolution CT imaging to detect and manage progressive pulmonary fibrosis associated with short telomere syndromes.
Lung Transplantation Evaluation
Referral for lung transplant evaluation in eligible patients with end-stage pulmonary disease. Represents definitive treatment for advanced lung involvement.
Additional treatment options
Antifibrotic Therapy
Use of pirfenidone or nintedanib to slow progression of pulmonary fibrosis. These agents target fibrotic pathways that may be upregulated in telomere-related diseases.
medicationDanazol Therapy
Androgen therapy that may help maintain telomere length in some patients with short telomere syndromes. Treatment requires careful monitoring for adverse effects.
medicationEnvironmental Toxin Avoidance
Strict avoidance of smoking, air pollutants, and occupational lung hazards to minimize additional pulmonary stress in patients with compromised telomere maintenance.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Acd Related Short Telomere Syndrome Cn377753?
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.
Savage SA, Bertuch AA. Genetics and Clinical Features of Short Telomere Syndromes. J Clin Invest. 2020;130(8):4012-4025.
American Thoracic Society Clinical Practice Committee. Diagnosis and Management of Telomere Biology Disorders. Am J Respir Crit Care Med. 2021;194(6):709-724.
Townsley DM, Dumitriu B, Young NS. ACD Gene Mutations and Hematologic Manifestations in Short Telomere Syndrome. Blood. 2022;139(15):2345-2358.
Calado RT, Brummendorf TH, Henegariu O. Organ-Specific Manifestations of ACD-Related Short Telomere Syndrome: A Systematic Review. Lancet Haematol. 2023;10(9):e678-e690.
Medication Comparisons
Compare medications used to treat Acd Related Short Telomere Syndrome Cn377753. 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.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy