Prevalencia, búsqueda y registro clínico asistencial de pacientes con síndrome de Peutz Jeghers en Valencia

Peutz Jeghers syndrome is a rare disease with autosomal dominant inheritance caused by a germline mutation of the STK11/LKB1 gene, which codes for a serine/threonine/kinase protein. It consists of intestinal and extraintestinal hamartomatous polyposis, cancer predisposition, and mucocutaneous hyperpigmentation. It is associated with complications such as abdominal pain, gastrointestinal bleeding, anemia, prolapse and ulceration of polyps, obstruction and intestinal invagination. 2.409 / 5.000 Resultados de traducción Patients who had attended 10 hospitals in the province of Valencia were included, using the Minimum Set of Hospital Admissions Database and the ICD-9 759.6. Classification, screening and validation of clinical data were performed. The information obtained is not defined as a health or disease registry, and needs to be added to the files of other related diseases, biobanks and mutations, but it will be extrapolated to the National Registry of Rare Diseases. 405 medical records were reviewed and only 15 cases were obtained, therefore, the search with ICD-9 759.6 is not precise, specific, or efficient. Obtaining clinical-epidemiological information will improve socio-health care and allow prospective studies to be carried out. The prevalence figures described are variable, generally 0.4/100,000, and coincide with our results. There is a problem with the diverse methodology of studies done to determine true heritability. It has been found to be more affected in men (1.5:1), the mean age of diagnosis was 13.8 years and the age of onset of symptoms was 12.8 years, the mean age of death was 55 years, being the cancer the most common cause of death. The age at presentation of symptoms may be lower, due to the lack of inclusion of children and difficulty in extracting information. The most frequent initial symptom was abdominal pain and anemia, with no differences by gender. The most frequent polyps are those of the small intestine, specifically the duodenal ones; also, adenomatous polyps were found. There are results that demonstrate the relationship between the location of the polyps and some complications. The incidence of cancer was relatively high, with a mean age of diagnosis of 48 years, they suffered in order of frequency, cancer of the breast and pancreas, duodenum and esophagus. Few cases had the genetic test performed and no relationship between phenotype-genotype was found. Compliance with the tests indicated in the protocols was not carried out satisfactorily, which influenced the late diagnosis of cancer. There are multiple surveillance protocols aimed at diagnosing cancer and preventing complications, but without agreement among them. A national and international consensus is necessary and to assess the impact of the measures that must be established.