There are no current recommendations for the management of patients with PLOD3-related disease. However, based on the medical problems identified in published cases, the following suggestions are made:
- Care should be coordinated by a key clinician(paediatrician or GP).
- Investigations to consider in all patients: echocardiogram, whole body magnetic resonance angiography or other imaging to assess for possible aneurysm; hearing assessment; vision assessment.
- Referrals and ongoing surveillance that may be required: orthopaedics for scoliosis and/or joint contractures; ophthalmology for vision assessment; cardiology or vascular physician if a heart or vascular problem is identified; audiology for possible sensorineural hearing loss; allied health intervention for developmental delays; dermatologist for skin problems and ongoing management as per epidermolysis bullosa if erosions and/or blistering are present.
- Patient education: information on symptoms that can be experienced with – retinal detachment and prompt ophthalmological assessment is needed; vascular dissection with prompt attendance to a hospital emergency department / ambulance.