RESUMEN
Osler-Weber-Rendu disease, also known as hereditary hemorrhagic telangiectasia (HHT), is a rare, autosomal dominant condition that affects approximately 1 in 5000 patients causing abnormal blood vessel formation. HHT patients have mucocutaneous telangiectasias and arteriovenous malformations in various organs. The most prominent symptom of HHT is epistaxis, which, together with gastrointestinal bleeding, may cause iron deficiency anemia. This study is a case report of a 62-year-old patient who was admitted to the Department of Gastroenterology due to acute upper gastrointestinal bleeding and a history of recurrent epistaxis and melena for 4 days, which was confirmed in digital rectal examination. Urgent upper gastrointestinal endoscopy revealed active bleeding from multiple angioectatic spots with bright-looking salmon-colored patches in the antrum and the body suggestive of HHT. The bleeding from two angioectatic spots was stopped by argon plasma coagulation, and four clips were placed to provide good hemostasis. The patient was treated with a proton pomp inhibitor infusion and iron infusion. She was discharged with no signs of GI bleeding, normalized iron levels and a diagnosis of HHT. She was referred to further genetic testing, including evaluation of first-degree relatives. She also had performed unenhanced thin-cut computed tomography (CT) with angiography to exclude the presence of pulmonary arteriovenous malformations (PAVMs). Due to the fact that the patient did not manifest any other HHT-related symptoms and that the instrumental screening discloses no silent AVMs in other organs, the "watch-and-wait strategy" was applied. Although, Osler-Weber-Rendu syndrome is widely described in the medical literature, effective treatment of gastrointestinal telangiectasias is not always available and still lacks standardization to date, which makes the management of gastroenterological involvement still a challenging issue.
Asunto(s)
Telangiectasia Hemorrágica Hereditaria , Angiografía/efectos adversos , Femenino , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiología , Humanos , Melena/etiología , Persona de Mediana Edad , Telangiectasia Hemorrágica Hereditaria/complicaciones , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Telangiectasia Hemorrágica Hereditaria/genética , Tomografía Computarizada por Rayos XRESUMEN
We report a rare case of Peutz-Jeghers syndrome (PJS) in a 35-year-old female. The patient was diagnosed with PJS when she was 11 years old. She has remained under observation since then. We strongly believe that PJS is a very rare diagnosis. However, it can have serious complications such as the intussusception we observed in our patient. Her condition (recurrent abdominal pain and vomiting) in childhood required further diagnostic procedures. Although the diagnosis of PJS was made, among many resected polyps, one of them appeared to be a juvenile polyp. The diagnosis was confirmed in the histopathology report, which was incredibly unique. Genetic testing revealed LKB1/STK11 gene mutation. Clinicians should be aware of the malignant potential in the course of PJS. Hence, these patients require tailor-made management, long-term follow-up, and our particular attention.
Asunto(s)
Intususcepción , Síndrome de Peutz-Jeghers , Adulto , Niño , Femenino , Humanos , Intestino Delgado/patología , Intususcepción/diagnóstico , Intususcepción/etiología , Intususcepción/cirugía , Mutación , Síndrome de Peutz-Jeghers/complicaciones , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/genéticaRESUMEN
Benign pancreatic hyperenzymemia (Gullo's syndrome) is characterized by a more than threefold increase of the serum pancreatic enzymes lipase and amylase activity in the absence of any pancreatic disease. Recently, there is an increase in describing cases of Gullo's syndrome in medical literature. Gullo's syndrome is a diagnosis of exclusion, and clinicians should be aware of various other conditions which can cause elevation of pancreatic enzymes. However, the diagnostic pathway should be done with the right accuracy to avoid unnecessary examinations.