Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

17 cases of Budd-Chiari syndrome with polycythemia diagnosed by the authors are reviewed, and the primary or secondary etiology of this disorder in these cases, in the other 36 reported in the literature, and in the 8 users of oral contraceptives who have suffered the combined syndrome since 1966, is discussed. The Budd-Chiari syndrome is a primitive thrombosis of all or part of the subhepatic veins, and among 350 known cases, only 36 have also had polycythemia. Contrary to the mostly older patients with polycythemia vera, these 17 cases averaged 36.8 years, and were more often female (10 of 17), 4 had gynecologic antecedents 1 (oral contraceptives, 1 pregnancy, 1 abortion, 1 myomectomy). The clinical findings commonly seen were ascites (82%), hepatosplenomegaly (94%), bromosulphthalein retention (81%), low serum lipids (59%), high serum albumin (81%), low serum iron (75%), and other extensive thrombosis. 2 of these patients died within 2 months, 5 died within 2 years, and 5 are still living. The patient who took oral contraceptives had had 3 induced abortions and 1 pregnancy; took Ovariostat for 5 days, 1 month after first contracting progressive jaundice; was hospitalized 9 months later; and was successfully treated. The authors commented that polycythemia was documented in all cases of Budd-Chiari syndrome in pill users in which tests were made. Among these 17 cases, 2 had true polycythemia, and 8 has secondary polycythemia.
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PMID:[Polycythemia and Budd-Chiari syndrome. Apropos of 17 cases]. 515 23

The presence of erythrocytosis along with the diagnosis of chronic obstructive pulmonary disease (COPD) may veer a primary care clinician in a busy clinic towards attributing the erythrocytosis to hypoxia secondary to COPD; however, this is not always the case. This case highlights the importance of investigation and the significance not excluding a primary cause in COPD patients with erythrocytosis. A 57-year-old male, presenting with chronic cough, was subsequently diagnosed with COPD clinically and confirmed by spirometry. Erythrocytosis was also incidentally noted. The patient did not have any symptoms of polycythemia or hepatosplenomegaly. Therefore, the erythrocytosis was initially thought to be caused by hypoxia secondary to COPD. However, the JAK2 V617F gene mutation was detected and hence the diagnosis of polycythemia vera was made. Although the erythrocytosis was initially attributed secondary to the underlying pulmonary disease, investigations proved it to be primary in origin. This case report highlights the importance of investigating the underlying cause and to confirm the diagnosis of erythrocytosis as primary and secondary polycythemia differ in their management approach. This will avoid inappropriate diagnosis, treatment, and undesirable outcomes.
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PMID:Polycythaemia Vera JAK 2 Mutation in a Patient with Underlying Chronic Obstructive Pulmonary Disease at a Primary Care Setting. 3251 84