Thalidomide as a treatment of intestinal angiodisplastic lesions in a patient with CREST syndrome – case report and literature review

A anemia ferropriva grave secundária à hemorragia digestiva por angiodisplasiasintestinais representa um grande desafio terapêutico. Comumente, as ectasias vasculares sãomúltiplas e dispersas ao longo do intestino, limitando a eficácia do tratamento hemostáticolocal. Nos últimos anos houve significativo avanço no tratamento anti-angiogênico sistêmico dasangiodisplasias intestinais, sendo talidomida a droga mais empregada para tal fim. Relatamoso caso de uma paciente de 49 anos com angiodisplasias intestinais secundárias a síndromeCREST (Calcinose, Raynaud, Dismotilidade Esofágica, Esclerodactilia e Telangiectasias). Apaciente apresentava quadro de melena recorrente e alta necessidade transfusional, e nãoobteve resposta clínica após realização de enteroscopia e eletro-coagulação das lesões complasma de argônio. Após a introdução de talidomida 100mg ao dia, a paciente evoluiu deforma bastante satisfatória. O caso apresentado neste texto, além de demonstrar sucesso datalidomida no tratamento de angiodisplasias intestinais refratárias à eletro-coagulação complasma de argônio, também revela eficácia da droga na situação específica da síndromeCREST. Tal fato pode ser de grande valia quando da abordagem de hemorragia intestinal porangiodisplasias nesses pacientes, representando nova opção terapêuticaThe severe ferropenic anemia secondary to digestive bleeding due to intestinalangiodisplastic lesions represents a great challenge. Commonly, angiodisplastic lesions aremultiples and disperse through the intestine and that fact limits local treatments. Over the lastyears, there was a great advance in the antiangiogenic treatment of intestinal angiodisplasticlesions and thalidomide was the most employed drug for this purpose. We report a case of a49 year-old patient with intestinal angiodisplastic lesions due to CREST syndrome (Calcinosis,Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia). The patientpresented repeated episodes of digestive bleeding and did not achieve clinical improvementafter enteroscopy and argon plasma coagulation. The treatment consisting of the introductionof thalidomide 100mg per day demonstrated success. The case presented in this text revealssuccess in the use of thalidomide in the treatment of intestinal angiodisplastic lesions, probablyrepresenting a new therapeutic optio

Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis

Background: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). In addition, different genotypes are identified as results of genetic tests in patients with suspected primary iron overload. In the present study, our aim was to evaluate whether domains of QL are different according to genotypic groups in patients suspected of HH. Methods: Seventy-nine patients with primary iron overload were included and two genotypic groups were formed (group 1: homozygous genotype for the HFE p.Cys282Tyr mutationgroup 2: other genotypes). Results: Group 1 had higher means of plasma transferrin saturation (86 +/- 19%) and serum ferritin (1669 +/- 1209 ng/mL) compared to group 2 (71 +/- 12%, 1252 +/- 750 ng/mL, respectivelyp = 0.001). Four domains were significantly different among groups 1 and 2: physical functioning (p = 0.03), bodily pain (p = 0.03), vitality (p = 0.02) and social functioning (p = 0.01). Conclusions: Our main finding was that patients with p. Cys282Tyr homozygosity had a worse QL scenario assessed by SF-36, compared with patients with iron overload without the same genotype. Being aware of this relationship between genotypes and QL might be helpful in the overall management of patients suspected of hereditary hemochromatosis.Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES) [2013/09295-3]Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP), Brazil [2013/20614-3]Univ Sao Paulo, Heart Inst InCor, Lab Genet & Mol Cardiol, Med Sch, Av Doutor Eneas de Carvalho Aguiar 44, BR-05403900 Sao Paulo, SP, BrazilSanta Casa Med Sch, Hematol & Hemotherapy Sect, Sao Paulo, BrazilAcad Ciencia & Tecnol, Sao Jose Do Rio Preto, BrazilFundacao Pro Sangue, Hemoctr Sao Paulo, Sao Paulo, SP, BrazilUniv Sao Paulo, Sao Paulo, SP, BrazilUniv Sao Paulo, Med Sch, Hosp Clin, Hematol Serv, Sao Paulo, BrazilUniv Sao Paulo, Med Sch, Hosp Clin, Hematol & Hemotherapy Discipline, Sao Paulo, BrazilUniv Rennes, Pontchaillou Univ Hosp, Liver Dis Unit, Rennes, FranceNatl Reference Ctr Rare Iron Overload Dis Genet O, Rennes, FranceUniv Fed Sao Paulo UNIFESP, Dept Pharmacol, Sao Paulo, BrazilUniv Fed Sao Paulo UNIFESP, Dept Pharmacol, Sao Paulo, BrazilCAPES: 2013/09295-3FAPESP: 2013/20614-3Web of Scienc

Cardiovascular autonomic dysfunction in sickle cell anemia

Sickle cell anemia (SCA) is associated to increased cardiac output, normal heart rate (HR), abnormal QT dispersion and lower diastolic blood pressure (DBP). The mechanisms are still unknown. The objective of this study was to test the hypothesis that there is cardiovascular autonomic dysfunction (CAD) in SCA. The secondary objectives were to distinguish the roles of chronic anemia and hemoglobinopathy and to evaluate the predominance of the sympathetic or parasympathetic systems in the pathogenesis of CAD. Sixteen subjects with SCA, 13 with sickle cell trait (SCT), 13 with iron deficiency anemia (IDA), and 13 healthy volunteers (HV) were evaluated. All subjects were submitted to 24 h-electrocardiogram (24 h-ECG), plasma norepinephrine (NE) measurement before and after isometric exercise (IE), and also Valsalva maneuver (VM), diving maneuver (DV), and tilt test (TT). Baroreflex sensitivity (BRS) was also evaluated. The minimum, average and maximum HR as well as the percentage of bradycardia and tachycardia at 24-h ECG were similar in all groups. NE at baseline and after IE did not differ between groups. The SCA group showed less bradycardia at phase IV of VM, less bradycardia during DV, and also less tachycardia and lower DBP during TT. BRS for bradycardia and tachycardia reflex was decreased in the SCA and SCT groups. In conclusion, 1) there is CAD in SCA, and it is characterized by the reduction of BRS and the limitation of HR modulation mediated by the parasympathetic system; 2) cardiovascular sympathetic activity is preserved in SCA; and 3) hemoglobinopathy is the preponderant ethiopathogenic factor. (C) 2011 Elsevier B.V. All rights reserved