Table 2 Recommendations table: symptom management and survivorship
No. | Recommendation | Strength of recommendation | Key references* |
|---|---|---|---|
General | |||
R1 | EB is a disease that is best treated within an IDT that optimally consists of the person living with EB and their carers at the core in addition to a dermatologist, paediatrician/primary care physician, specialist nurse, wound care specialist, surgeon, oncologist, psychologist, pain specialist, palliative care specialist, gastroenterologist, physiotherapist, occupational therapist, and a social worker. Each team member’s role is clearly established shortly after the birth of a baby with EB and are adjusted to meet the child’s evolving needs | ↑↑ | |
R2 | Treatment should focus on achievable goals over the span of an entire lifetime, with the goal of managing physical and/or emotional suffering while respecting the autonomy and individuality of each person, and providing psychoeducation to the person living with EB, their family, and carers in a way they can fully understand | ↑↑ | |
R5 | It is paramount to fully inform the patient of all their treatment options (including no treatment) in an age-appropriate manner and to ensure that all the wishes of the person living with EB and their family are heard and respected, including those related to where they wish to die, the level of sedation that they are willing to tolerate, as well as feeding, and hydration | ↑↑ | → [9] |
R29 | Accurately diagnosing the EB type and applying the appropriate interventions to manage disease complications significantly improves disease management and the likelihood of survival as the patient ages | ↑↑ | |
R30 | Consider offering nursing care to give carers respite | ↑ | |
R31 | To provide the best possible care, good provider mental health through self-care practices and a life outside of the medical setting is necessary | ↑↑ | |
R32 | Parents and their affected child must be allowed the opportunity to voice their opinions regarding the best plan of care | ↑↑ | |
R33 | A collaborative “co-survivor” approach between healthcare providers and parents is critical for educating patients on the importance of self-care and for developing better palliative care protocols | GPP | |
R34 | A multifactorial approach is recommended to assess the balance between QoL and survivorship | GPP | |
R35 | Comorbidities should be diagnosed and treated early whenever possible | ↑↑ | [54] |
Pain and symptom management | |||
R2 | See R2 above | ↑↑ | |
R3 | Provide appropriate levels of analgesia to keep pain controlled while using the safest possible routes | ↑↑ | → [9] |
R6 | Steps should always be taken to manage suffering related to pain and itch with the understanding that the aggressiveness of pharmacologic treatment of pain and itch may increase/change as the patient’s goals and clinical trajectory change | ↑↑ | |
R7 | Treatment should focus on identifying different pain qualities to plan the most effective and appropriate pharmacologic and non-pharmacologic pain management regimen tailored for the individual and their situation | ↑↑ | → [10] |
Urology | |||
R4 | Urinary catheterization and administering nasogastric or subcutaneous fluids toward the end of life may be beneficial if they do not outweigh discomfort and patients at this stage may be more comfortable having fewer or even no dressing changes | GPP | → [9] |
R8 | Urological complications should be detected and treated early | ↑↑ | [31] |
Ophthalmology | |||
R9 | Ocular involvement, especially management of corneal abrasions and corneal epithelial defects must be considered in all cases of EB | ↑↑ | [32] |
R10 | The panel recommends the preventative use of artificial tears to reduce corneal abrasions and to improve eye comfort | GPP | |
Gastroenterology/nutrition | |||
R11 | “The aims of nutritional support mainly include: improving nutritional status, alleviating the stress of oral feeding, and minimizing nutritional deficiencies” | ↑↑ | [2] |
R12 | Because of the particularly deleterious nature of GER, prompt treatment is necessary | ↑↑ | [2] |
R13 | Dietary modifications, such as choosing foods that are energy dense (e.g., fats), softer, and have lower volume, are recommended for strictures that are less severe and esophageal dilation is necessary for severe strictures | ↑↑ | |
R14 | Nasogastric tubes are not recommended | ↓↓ | [2] |
R15 | G-tube placement is recommended for patients who present with failure to thrive, chronic oral issues, chronic constipation, and/or high stress associated with feeding despite the potential risks | ↑↑ | |
R16 | G-tube placement needs to be carefully managed to minimize side effects and potential downstream negative gastrointestinal effects | ↑↑ | |
R17 | People affected by more severe forms of EB may need to rely heavily upon increased amounts of micronutrients and vitamins through nutritional supplementation | ↑↑ | [2] |
R18 | Infants with more damaged skin may require energy supplementation powders to be added to expressed breast milk/infant formulas so that they may achieve their nutritional goals | ↑↑ | [2] |
R19 | Children living with EB may begin consuming solid foods at the same time as unaffected children (i.e., when good head control is achieved), but hard, sharp, or otherwise rough foods are not recommended | ↓↓ | [2] |
R20 | Meals should contain the highest caloric and nutrient content with the lowest possible volume | ↑↑ | [2] |
Oral/dental | |||
R21 | The importance of good oral preventative care and cautious medication selection is strongly emphasized with the understanding that conventional dental management must typically be modified, and all dental care should, whenever possible, be done by a dentist experienced in the care of people living with EB | ↑↑ | [34] |
R22 | Before teeth are extracted, clinicians should consider the difficulties of wearing prosthetic devices as well as the psychological effect losing teeth can have | ↑ | [34] |
R23 | Just as a close relationship between the dental care provider and dietitian is important, maximizing prevention methods and utilizing appropriate oral hygiene techniques and equipment are very important | ↑↑ | [34] |
End-of-life | |||
R4 | See R4 above | GPP | → [9] |
R24 | After a diagnosis of severe JEB subtype is made, it is advisable to focus exclusively on comfort-oriented care | ↑↑ | [43] |
R25 | Enteral nutrition is not recommended in the context of severe JEB | ↓↓ | [2] |
R26 | Withholding medically non-beneficial interventions is well-established in both adult and paediatric medicine and is widely practiced in end-of-life care for people with EB | GPP | [20] |
R27 | To relieve refractory symptoms, palliative sedation may be considered | ↑ | [22] |
R28 | Providing pain medications with the intent of symptom management is well-established and is an alternative to ethical treatment of pain without resorting to euthanasia, even if doing so hastens death | ↑↑ | [20] |