Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 45-year-old Japanese woman with splenomegaly and thrombocytopenia was referred to our hospital. The diagnosis of Osler-Weber-Rendu disease (Osler's disease) was made because of spotty telangiectasia on her tongue, recurrent epistaxis since childhood, and a diathesis indicated by her family history. The patient's laboratory examination revealed anemia, thrombocytopenia, and other data consistent with chronic disseminated intravascular coagulation (DIC). Bone marrow examination was normal. Abdominal computed tomography showed marked enlargement of the spleen with deformity and calcified plaque, not homogeneously enhancing. Hypersplenism was not observed. Platelet scintigraphy indicated a remarkable uptake in the spleen. She was diagnosed as having chronic DIC associated with vascular lesions of Osler's disease in the spleen. Splenectomy was performed and the subsequent pathological findings indicated that fragility of the fine vascular architecture of the splenic red pulp might have been responsible for pathogenesis. The large pooling of blood with coagulation was thought to be secondary.
 ...
PMID:Splenomegaly and chronic disseminated intravascular coagulation in Osler-Weber-Rendu disease: a case report. 1107 62

Hereditary hemorrhagic telangiectasia, or Osler-Rendu-Weber disease, is an autosomal dominant disorder in which a variety of vascular dysplasias occur throughout the organ systems. We report the gray-scale and color Doppler sonographic findings in a case of hereditary hemorrhagic telangiectasia. Gray-scale sonographic examination revealed massive splenomegaly, multiple dilated intrasplenic vascular structures (some with adjacent punctate calcifications), an aneurysmal dilatation of the splenic vein, dilated intrahepatic portal branches, and marked atrophy of the right hepatic lobe. Color Doppler sonography showed dilatation of the truncus coeliacus and high-velocity flow in the splenic artery. There were significant aliasing in the splenic hilum and an abnormal, arterialized flow in intrasplenic branches of the splenic vein. The splenic vein was massively enlarged with increased flow velocity and contained an isolated aneurysmal dilatation in the hilum. There were multiple serpiginous retroperitoneal collateral vessels, and the left gastric vein was dilated with hepatofugal flow. The patient had portal hypertension that developed secondary to the increased portal flow.
 ...
PMID:Splenic vascular malformations and portal hypertension in hereditary hemorrhagic telangiectasia: sonographic findings. 1118 Jan 87

Rendu-Osler-Weber syndrome, or hereditary hemorrhagic teleangiectasia (HHT), is a rare autosomal dominant vascular disorder, characterized by multiple mucocutaneous teleangiectases with recurrent nasal and gastrointestinal bleedings and/or solid-organ arteriovenous shunts. We describe the first case to our knowledge of pancytopenia in a 53-year-old patient, with a known history of HHT and recurrent nasal and gastrointestinal bleedings, who was found to have a major splenic artery aneurysm and other uncommon vascular abnormalities. In the absence of other evident causes of pancytopenia, hypersplenism was diagnosed. The patient underwent coil embolization of the splenic artery aneurysm, followed by rapid and sustained increase of white blood cell and platelet count. Splenic artery aneurysms are extremely uncommon in HHT as only anecdotal cases have been reported to date. However, we believe that the aneurysm critically contributed to the progression of splenomegaly and the development of pancytopenia.
 ...
PMID:Pancytopenia in a Patient with Rendu-Osler-Weber Syndrome and Uncommon Vascular Abnormalities. 2780 22