Cardiac thrombi in a patient with protein-C and S deficiencies: a case report

We report a case of multiple mobile intra-cardiac thrombi accompanying recurrent pulmonary embolism that has been successfully treated by fibrinolytic therapy. Control transesophageal echocardiographic examination showed that prolonged thrombolytic treatment completely removed the thrombi. Surgical removal of emboli has been validated but cannot be proposed to all patients since it is a high-risk intervention. Fibrinolysis is generally efficient but exposes the patient to risk of migration of the intra-cavity thrombus, with occasionally deleterious evolution. Systemic thrombolytic therapy is usually recommended if (a) it is not contraindicated and (b) the thrombi are demonstrated in more than one cardiac chamber, entailing a higher risk of surgical intervention. However, the infusion rate and duration of thrombolytic therapy are important determinants of successful and uncomplicated lysis. Low dose and long infusion time should be chosen to avoid fragmentation of the thrombus and related complications. © 2004 Ercan et al; licensee BioMed Central Ltd

The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. Methods: This prospective study assessed α-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy. The diagnosis was confirmed by GLA gene mutation analysis. Results: Three (all males) of 313 CKD patients (0.95%) were diagnosed of Fabry disease, for a prevalence in males of 1.80%. Family screening identified 8 aditional Fabry patients with CKD. Of a total of 11 Fabry patients, 7 were male and started enzyme replacement therapy and 4 were female. The most frequent manifestations in male patients were fatigue (100%), tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%), heat intolerance (71%), and abdominal pain (57%). The most frequent manifestations in female patients were fatigue and cornea verticillata (50%), and tinnitus, vertigo and angiokeratoma (25%). Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever. Conclusions: The prevalence of Fabry disease in selected CKD patients is in the range found among renal replacement therapy patients, but the disease is diagnosed at an earlier, treatable stage. These data support the ERBP recommendation to screen for Fabry disease in patients with CKD of unknown origin