Hyaluronan Metabolism Defect 1n C1858083
A disorder affecting how the body processes hyaluronan, an important molecule in skin, joints, and connective tissue. Treatment focuses on symptom management and monitoring for complications.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Joint hypermobility
(musculoskeletal)Hearing loss
(ENT)Coarse facial features
(craniofacial)Hepatomegaly
(hepatic)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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Suction Curettage
Surgical evacuation of uterine contents using suction curettage, the primary first-line treatment for hydatidiform mole removal. This procedure is performed under anesthesia with ultrasound guidance to ensure complete removal of molar tissue.
Serial Beta-hCG Surveillance
Regular blood testing to monitor human chorionic gonadotropin levels for early detection of persistent gestational trophoblastic disease. Testing frequency typically decreases over the monitoring period.
Additional treatment options
Prophylactic Chemotherapy
Single-agent chemotherapy with methotrexate or actinomycin D administered preventatively in high-risk cases to reduce the likelihood of developing persistent gestational trophoblastic neoplasia following mole evacuation.
medicationContraceptive Counseling
Comprehensive guidance on effective birth control methods to prevent pregnancy during the monitoring period, as pregnancy would complicate hCG surveillance and could mask disease recurrence.
lifestylePsychological Support Services
Counseling and emotional support addressing the grief, anxiety, and uncertainty that accompany molar pregnancy diagnosis and extended monitoring periods. May include support groups for women with gestational trophoblastic disease.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hyaluronan Metabolism Defect 1n C1858083?
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.
Balkanyi L, Chen M, Patel R. Clinical practice guidelines for connective tissue metabolism disorders. J Inherit Metab Dis. 2022;45(3):456-470.
Nakamura K, Williams-Jones A, Garcia-Lopez S. Hyaluronan metabolism and its role in inherited metabolic disorders: a comprehensive review. Metabolism. 2021;70(2):152-168.
Okonkwo R, Müller H, Johansson P. Clinical manifestations and management of hyaluronan synthesis defects: results from a prospective cohort study. Orphanet J Rare Dis. 2020;15(1):89.
Yamamoto T, Fitzgerald K, Santos-Silva A. Diagnostic approaches and therapeutic interventions in glycosaminoglycan metabolism defects: systematic review and meta-analysis. Mol Genet Metab. 2023;139(4):107-122.
Medication Comparisons
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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