Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. Epidermolysis bullosa cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. The signs and symptoms of dystrophic epidermolysis bullosa vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, scarring, and other serious medical problems.
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Dystrophic epidermolysis bullosa DEB is a rare disease that represents a heavy burden for both the patient and the health care system. There are currently no data on the prevalence of DEB in Spain.. To determine the prevalence of DEB in Spain.. We used data from 3 incomplete population-based sources hospital dermatology departments, diagnostic laboratories performing antigenic mapping, genetic testing or both, and the Spanish Association of Epidermolysis Bullosa Patients [DEBRA] and combined them using the 3-source capture—recapture methodology..
We identified living DEB patients. The estimated prevalence of DEB was 6. The prevalence of DEB in Spain is 6. The north—south difference may represent real geographic differences in prevalence, but it might be due to the fact that most of the data come from registries with a lower than expected catchment.
La EAD es una enfermedad rara que conlleva una gran carga para el paciente que la sufre y para el sistema de salud que le atiende..
Hemos identificado pacientes vivos. Epidermolysis bullosa EB is a group of inherited diseases in which the skin breaks and blisters easily following minor trauma. Patients with severe RDEB experience generalized severe mucocutaneous blistering and scarring accompanied by systemic manifestations that eventually lead to premature death. Family burden questionnaire scores in DEB are similar to those observed in caregivers of cancer patients.
The disease is also a burden on the public health system because complications inevitably arise since nearly all organs and body tissue are eventually involved. Early intervention is critical because it will determine the quality of life and life expectancy of these patients.
DEB patients also require information, specialized care, and social and financial support. EB are considered rare diseases, meaning that their prevalence is less than 1 case per individuals and data on the prevalence of DEB in Spain is lacking. In rare diseases, accurate estimates of prevalence are important for planning health care and research but difficult to obtain.
In Spain, patients with EB are mostly managed in centers with pediatric dermatology clinics. The capture—recapture method was developed to merge data from different incomplete lists e. This was a prospective, population-based, cross-sectional study carried out using the capture—recapture technique. The specialists working in participating dermatology departments contacted dermatologists working in smaller public hospitals in their area to ask about known patients with DEB.
Nearly all patients with DEB attend public hospitals because of the severity of the disease. All the participating centers provided a list of patients with DEB alive in October , coded using the patient's initials and year of birth. Individual identifiers were matched after checking both initials and year of birth. We considered that patients were alive if there was evidence of contact with health providers in and no evidence of death in their records. In other cases, patients were contacted to confirm their life status.
Doubts about matching were solved by contact between the data owners. For case definition we accepted clinical diagnosis by a dermatologist only if this had been confirmed either by means of EM, AM, or detection of COL7A1 mutations. Map of Spain showing the geographical distribution of the participating dermatology departments red dots and 2 laboratories purple dots. The assumptions underpinning the capture—recapture method are explained in the discussion section. Of these, 42 patients were present in 2 of the sources, and 17 in all 3.
Eight doubts about matching were resolved after contact between the participating centers. A table showing the overlapping between the 3 data sources is available from the author. Age distribution of the patients in our study and of the Spanish population.
The capture—recapture method generates several models to fit the relationship between the different data sources. In our study, all models gave similar estimates, which is reassuring. The best-fitting log-linear model was a model with 2 pair interactions. Using this model, the best estimate of the non-captured population was patients, which gives a total of patients after the addition of the identified cases Table 1.
The resulting estimated prevalence of DEB is 6. The capture—recapture method estimates the total number of cases, including those not identified, on the basis of the overlap between the different data sources.
Prevalence based on identified patients alone does not include the results of the capture—recapture method. Assuming that data on children would be more accurate, we calculated the prevalence in children under 18 years of age.
In this group, the best fitting model once again had 2 interaction terms. We detected 81 patients, and the model predicted 55 more undetected. The resulting prevalence was Using the capture—recapture method we estimated the prevalence of DEB in Spain to be 6. These estimated rates are higher than most previous prevalence reports. We have also shown that the data sources used were incomplete, a circumstance that justifies the use of the capture—recapture method to improve the accuracy of the estimate.
However, even if we only take into account the actual patients identified without considering the predictions of the models, the minimum certain prevalence is 3. The validity of the capture—recapture method is based on the following 3 assumptions: a closed study population e.
It is very likely that our study population was closed: DEBRA Spain, which maintains close contact with patients and sends information to their home addresses, was aware of only 1 patient leaving Spain over the last 10 years and none migrating to this country. Correct identification of patients is certain. The initial matching of names and year of birth gave rise to 8 instances of doubt; all of these were subsequently resolved definitively when the data owners jointly reviewed their information.
The assumption that every patient in Spain has the same probability of being captured by each source is the most problematic of the 3 assumptions.
If this criterion is not fulfilled it might mean that a hidden population exists that cannot be captured by any of the sources studied. This, in turn, would mean that our model underestimated prevalence rates.
In the case of data from dermatology departments, there might be areas that were not adequately covered or hard-to-reach patients.
To minimize this risk, we contacted hospitals all over the country and asked participants to collect data from other dermatology departments in their area. Due to the severity of DEB, patients are likely to seek frequent care in the public health system, minimizing the likelihood of a hidden population.
With respect to the other 2 sources, the laboratory testing centers and DEBRA are clearly identified entities, well known to dermatologists and patients over Spain and accessible from anywhere in the country. Another factor likely to affect the probability of a patient being captured in the lists was age.
The age distribution of the patients identified was markedly different from that of the general population Fig. This is to be expected given that DEB is a disease associated with a significantly reduced life expectancy. This was confirmed by the higher overlap between sources in this age group.
We believe that the assumptions of the capture—recapture model were adequately fulfilled in both age groups, but more strongly in the group of patients under 18, making it a more accurate estimate. If there are any errors in the estimates they are more likely to be due to the presence a hidden population, which would mean that our results are underestimated.
This last finding may reflect the fact that genetic diagnosis has only been available in Spain since We found the estimated prevalence of DEB to be 6. Orphanet reports a prevalence of 7 cases per million; this figure was calculated as the mean of the highest and lowest values collected in the literature, a method that obscures geographical and methodological differences. Such geographic variations in prevalence may be real or could be due to errors in the estimates. One likely error is that the population coverage of many registries including the National EB Registry may be lower than expected.
Using the capture—recapture method to merge several data sources, as we did in our study, takes this problem into account and is likely to produce more accurate estimates. It is interesting to note a geographical trend and the fact that the higher prevalence figures tend to come from southern Europe, suggesting that the difference might be real. One factor that has been mentioned as the possible cause of high prevalence is the founder effect: higher prevalence in isolated countries or culturally closed communities might be associated with the presence of specific mutations in the population inherited from a common ancestor.
Ethnic-specific recurrent mutations have been described in Spain as well as in other places and in certain ethnic groups. In particular, the c. Geographic differences in prevalence would have implications for health service planning and might make randomized clinical trials more feasible in countries with higher prevalence.
Reported prevalence of dystrophic epidermolysis bullosa in different areas. Case definition is another area where errors may have occurred in previous studies and our own work. In the absence of confirmatory tests, some of the patients included may have been misdiagnosed, in particular those with non-Herlitz junctional EB and some types of scarring EB simplex. As most of the patients had not undergone molecular testing, the pattern of inheritance is unknown.
However, patients with more severe forms of RDEB are more likely to seek medical advice, undergo laboratory testing and join patient support associations. The findings in this respect are in line with the number of dominant versus recessive forms confirmed genetically 4 families and 70 patients respectively. Consequently, patients with more severe forms are more likely to be represented by our measure of prevalence.
In conclusion, the prevalence of DEB in Spain is 6. These data are useful for planning specialized care for these patients. Many patients are not being followed in specialized centers of reference, do not have genetic diagnosis and are not members of patient associations, suggesting that there is substantial room for improvement in their care. Capture—recapture methods should be used to assess the catchment of registries and to validate the accuracy of prevalence data from such registries.
The authors declare that no experiments were performed on humans or animals for this investigation. The authors declare that no patient data appear in this article. The authors declare that they have no conflicts of interest.
Dystrophic epidermolysis bullosa
Epidermolysis bul losa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol ; Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classifi cation of epidermolysis bullosa. J Am Acad Dermatol ; The clinical spectrum of dystrophic epidermolysis bullosa.
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