Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa.

BACKGROUND: Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines outlining best clinical practices to manage anemia in the EB population. The objective of this manuscript is to present the first consensus guidelines for the diagnosis and management of anemia in EB. RESULTS: Due to the lack of high-quality evidence, a consensus methodology was followed. An initial survey exploring patient preferences, concerns and symptoms related to anemia was sent to EB patients and their family members. A second survey was distributed to EB experts and focused on screening, diagnosis, monitoring and management of anemia in the different types of EB. Information from these surveys was collated and used by the panel to generate 26 consensus statements. Consensus statements were sent to healthcare providers that care for EB patients through EB-Clinet. Statements that received more than 70% approval (completely agree/agree) were adopted. CONCLUSIONS: The end result was a series of 6 recommendations which include 20 statements that will help guide management of anemia in EB patients. In patients with moderate to severe forms of EB, the minimum desirable level of Hb is 100 g/L. Treatment should be individualized. Dietary measures should be offered as part of management of anemia in all EB patients, oral iron supplementation should be used for mild anemia; while iron infusion is reserved for moderate to severe anemia, if Hb levels of > 80-100 g/L (8-10 g/dL) and symptomatic; and transfusion should be administered if Hb is < 80 g/L (8 g/dL) in adults and < 60 g/L (6 g/dL) in children.

Retrospective longitudinal study of osteoporosis in adults with recessive dystrophic epidermolysis bullosa.

This retrospective study looks at bone mineral density of people with recessive dystrophic epidermolysis bullosa as assessed by dual-energy x-ray absorptiometry. Data were collected in 34 patients aged 16-35 years. Statistical analysis showed immobility, low body mass index, and pubertal delay was associated with osteoporosis.

Long-term outcomes in adults with recessive dystrophic epidermolysis bullosa fed by a gastrostomy tube in situ.

BACKGROUND: People with severe recessive dystrophic epidermolysis bullosa (RDEB) have reduced oral intake as a result of oropharyngeal blistering, esophageal stricture, and constipation. Their nutritional requirements are increased by the need for constant wound repair and inflammation. No studies have been published on long-term outcomes in patients in whom gastrostomy tubes (G-tubes) were placed in childhood and who have now reached adulthood. METHODS: Twelve adults with RDEB who had used G-tubes in situ for a mean of 14.5 years (range: 10-19 years) were studied. The following growth parameters were recorded: current body mass index (BMI); height centile pre-gastrostomy; best height centile post-gastrostomy; height centile reached by the age of 18 years; and pubertal status. Nutrient intake via the tube and leakage were noted. Data on BMI and height centile reached by the age of 18 years in five young adults with severe RDEB who had declined tube placement were recorded. RESULTS: The mean ± SD BMI of patients fed by G-tube at adulthood was 20.2 ± 3.9 kg/m2. Eight subjects had increased, three had maintained, and one had decreased their BMI centile position. Three patients had increased, six had maintained, and three had decreased their height centile position; the latter three all increased their height centile initially. They were compared with five adults with severe RDEB who had declined G-tube placement. Four had reached a height within the normal centile range. In two, this was lower than their best height centile. None had reached a normal BMI (mean: 15.4 kg/m2). CONCLUSIONS: By increasing nutritional intake, G-tube feeding led to an improvement in BMI and helped maintain or improve linear growth.

Quality of life among adults with epidermolysis bullosa living with a gastrostomy tube since childhood.

Epidermolysis bullosa (EB) is a rare genetic condition characterized by blistering to the skin and internal mucous membranes arising from mild mechanical trauma. The impact on those affected can be significant. They might have increased nutritional requirements because of blistering, chronic wounds, infection, and loss of exudates, and nutritional intake might be compromised because of oropharyngeal blistering and strictures, resulting in malnutrition in many patients. Placement of gastrostomy tubes can help some patients meet nutritional requirements. We report a recent study on how EB patients and their families approached the issue of whether to have a gastrostomy tube placed and how such tubes affect quality of life. Our findings include important insights for clinicians and families about how patients experience life with a gastrostomy. We show how the process of consent can be improved and how patients with a gastrostomy tube can feel more in control of their lives.