PPM - Management of Fabry Disease (FD)-Checklist

Checklist

Pdf Summary

The document provides a comprehensive checklist for the management of Fabry Disease (FD) as of October 2024. It is intended for use by healthcare professionals to ensure consistent and thorough evaluation and treatment of patients with FD during clinic visits. Key elements include:<br /><br />1. **Clinical Evaluation**: It recommends reviewing and documenting the medical and family history of FD for each patient, ensuring to record details of individuals at risk. A thorough physical examination should be done at least annually.<br /><br />2. **Diagnostic Tests**: For male patients, checking the activity of the α-galactosidase A (a-gal A) enzyme is crucial, alongside GLA molecular testing for all patients. Monitoring for FD-specific symptoms, such as sweating abnormalities, gastrointestinal issues, pain/acroparesthesia, depression, anxiety, and quality of life impacts, should be documented at least annually.<br /><br />3. **Organ-specific Monitoring**:<br />   - **Renal**: The checklist outlines monitoring eGFR and proteinuria or albuminuria, with frequency varying based on age, sex, and risk level.<br />   - **Cardiac**: ECG and echocardiograms are advised at least annually or less frequently, depending on individual risk factors.<br />   - **Neurological and Pulmonary**: Brain MRI every three years and spirometry every two years for adults.<br />   - **Auditory**: Audiology evaluations where symptoms necessitate it.<br />   - **Biochemical**: Annual measurement of plasma GL-3, Lyso-GL-3, and urine Gb3 for adults and male children, with less frequent testing for female children.<br /><br />4. **Genetic Considerations**: Document if the GLA variant is amenable to migalastat treatment for adults aged 18 and over.<br /><br />5. **Treatment**: Encourages treatment initiation for all male patients and female patients exhibiting signs or symptoms unless declined by the patient.<br /><br />This checklist aids in standardizing the management approach and ensuring that all necessary evaluations for FD are completed and documented thoroughly.

Keywords

Fabry Disease

clinical evaluation

diagnostic tests

organ-specific monitoring

genetic considerations

treatment initiation

medical history

GLA molecular testing

enzyme activity

healthcare professionals