Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships.

BACKGROUND: Gastrointestinal stromal tumors have been detected in 25% of the necropsies performed on NF1 patients, but have been reported only in 7% of NF1 patients in the largest series. Such data imply an important gap between the true presence of tumors and those diagnosed. Few genotype-phenotype relationships have been described but to date none referring to abdominal tumors. OBJECTIVES: Evaluate retrospectively the efficacy of a regular and proactive follow-up of NF1 patients to early diagnose abdominal tumors and report their mutations. METHODS: Cohort study performed between 2010 and 2020, with 43 NF1 adult patients followed at our Dermatology department. RESULTS: Eight abdominal tumors were diagnosed in six patients, meaning that 14% of the followed patients developed an abdominal tumor. Five patients (83%) were asymptomatic. Five (83.3%) had a family history of NF1 with abdominal tumors (patients 1,2 and 3,4,5 were relatives). CONCLUSIONS: Although currently gastrointestinal routine screening investigations for asymptomatic patients are not recommended in the guidelines, the family aggregation in our series suggests it should be considered a close follow-up of the relatives of a patient with an NF1-related abdominal tumor. Also, for the first time, two mutations [c.2041C > T (p.Arg681Ter) and c.4537C > T (p.Arg1513*)] have been associated with family aggregation of abdominal tumors in NF1 patients.

[Incidence and characteristics of clinical and sub-clinic hyperthyroidism]. / Incidencia y características del hipertiroidismo clínico y subclínico.

OBJECTIVES: Estimate the incidence of hyperthyroidism in the region of Lleida and compare patients with clinic and subclinic hyperthyroidism. DESIGN: Descriptive retrospective. LOCALIZATION: City of Lleida and the towns of the provinces of Lleida and Huesca. PATIENTS: 190 people diagnosed of hyperthyroidism detected from a sample of 1885 patients with different pathologies, belonging to first visits to de Service of Endocrinology of the Hospital Arnau de Vilanova, during the period from 1999 to 2000. MAIN MEASUREMENTS: The following clinic and demographical variables related to the thyroid pathology were recorded: TSH, T(4), T(3), anti-Tg antibodies, anti-TPO antibodies, age, gender, consumption of salt with iodine and the incidence tax of hyperthyroidism. RESULTS: The incidence tax of hyperthyroidism in the province of Lleida was 46.2 ×10(5) people/year (95% CI, 33.5-61.0). For the 190 patients, the 85% (95% CI, 79.4-90) of them were women; the 38% (95% CI, 31%-45.2%) and the 62% (95% CI, 54.8-69) were diagnosed of clinic and subclinic hyperthyroidism respectively. The subclinic profile was characteristically for had a superior mean of age (P<.003), double of TSH level (P<.03) and half of T(4) level of (P<.001). CONCLUSION: Our study shows a high incidence of hyperthyroidism, and a difference of the two hyperthyroidisms. The detection of this pathology by professionals of primary care can help to improve their therapeutic control.

[Severe tricuspid insufficiency as main manifestation of hyperthyroidism]. / Insuficiencia tricuspídea severa como manifestación principal de un hipertiroidismo.

The cardiac manifestations of the hyperthyroidism (HT) are diverse and frequent. However, sometimes, the initial symptoms are atypical and are difficult to diagnose. We present the case of a patient whose HT began with heart failure secondary to a severe tricuspid regurgitation (IT). This data suggests that when confronted with IT of unclear etiology, a possible HT must be investigated.

[Acute pancreatitis in newly diagnosed type I diabetes mellitus with diabetic ketoacidosis and hypertriglyceridemia]. / Pancreatitis aguda en el inicio de una diabetes mellitus tipo I con cetoacidosis diabética e hipertrigliceridemia.

A 19 years old patient who presented grade D acute pancreatitis by abdominal CT with marked hypertriglyceridemia during a diabetic ketoacidosis (DKA) in the onset of a type I diabetes mellitus is described. The pancreatitis and DKA were resolved with the usual treatment, and the levels of triglycerides became normal within one week. Hyperamylasemia is frequent in DKA although of uncertain significance. Acute pancreatitis coinciding with DKA has been described, in this case radiologic findings demonstrated the diagnosis. No other bibliographic references have been found in which pathologic imaging in abdominal CT are described in a situation of DKA with hyperamylasemia. Moderate hypertriglyceridemia is common upon initiation of diabetes mellitus and likewise it usually presents during the course of acute pancreatitis. Pancreatitis could be secondary to hypertriglyceridemia and the latter to the insulin deficiency.