RESUMO
PURPOSE: HFE-hemochromatosis is one of the most common genetic disorders in the United States among Caucasians of Northern European ancestry. The purpose of this article is to discuss HFE-associated hereditary hemochromatosis (HH), including the genetics, pathophysiology, phenotype and genotype, diagnostics, and management utilizing a case-based format as an exemplar. DATA SOURCES: Online genetic resources; professional guidelines; review; and scientific articles. CONCLUSION: HFE-HH is an autosomal recessive disorder and two major genes C282Y and H63D are associated with HH (iron overload) susceptibility particularly C282Y/C282Y mutations. It has a variable penetrance and expression. Individuals who develop iron overload may develop broad symptoms, including joint discomfort, fatigue, decreased libido, and abdominal pain; and if left untreated, HFE-HH has the potential of developing end-organ disease including liver fibrosis, cirrhosis, and cancer; cardiac arrhythmias or heart failure; and diabetes. Suspicion of the disorder begins with personal and family history, transferrin saturation, and ferritin levels, and if high, genotyping to confirm the disorder. Management consists of correcting iron overload to prevent/delay end-organ damage often consisting of intermittent phlebotomy. IMPLICATIONS FOR PRACTICE: Knowledge of HFE-HH is essential so that nurse practitioners can identify individuals at risk and to provide appropriate management of care and referral.
Assuntos
Hemocromatose/congênito , Profissionais de Enfermagem , Atenção Primária à Saúde/métodos , Hemocromatose/genética , Hemocromatose/enfermagem , Hemocromatose/patologia , Humanos , Mutação , LinhagemRESUMO
Many oncology practices treat patients with benign and malignant hematologic diagnoses. As a result, oncology nurses often are required to care for these patients. One common procedure nurses perform is therapeutic phlebotomy, where about 500 ml of blood is removed through a large-bore needle over 15-30 minutes. The procedure is ordered as a treatment for hereditary hemochromatosis, polycythemia vera, and secondary polycythemia. Before initiating the procedure, nurses must be aware of a patient's diagnosis, baseline hemoglobin, hematocrit, ferritin, and therapeutic end points. Reviewing these diagnoses will help nurses understand why phlebotomy is an important part of treatment.
Assuntos
Hemocromatose/terapia , Flebotomia/estatística & dados numéricos , Policitemia Vera/terapia , Hemocromatose/enfermagem , Humanos , Policitemia Vera/enfermagemRESUMO
Neonatal hemochromatosis is a rare disease of iron metabolism, characterized by the excess accumulation of iron in the tissues. This occurs in utero and can lead to fetal demise or an infant who presents with advanced liver disease in the neonatal period. A case of neonatal hemochromatosis is reported in a 37-week infant who presented at birth with thrombocytopenia, coagulopathy, and abnormal liver imaging studies. The diagnoses of infection and metabolic errors were excluded before the confirmation of neonatal hemochromatosis was made. This diagnosis was confirmed by elevated ferritin levels and extrahepatic siderosis excluding the reticuloendothelial system. Anti-oxidant therapy was initiated with N-acetyl cysteine, selenium, vitamins C and E and intravenous immunoglobulin. The infant demonstrated a positive response and was discharged home with outpatient follow up. The clinical presentation of neonatal hemochromatosis is reviewed as well as diagnosis and treatment strategies.
Assuntos
Hemocromatose/diagnóstico , Falência Hepática Aguda/complicações , Falência Hepática Aguda/diagnóstico , Adulto , Antioxidantes/administração & dosagem , Diagnóstico Diferencial , Feminino , Hemocromatose/sangue , Hemocromatose/tratamento farmacológico , Hemocromatose/enfermagem , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Falência Hepática Aguda/sangue , Masculino , Gravidez , Complicações na Gravidez/sangue , Complicações na Gravidez/diagnóstico , Resultado do Tratamento , alfa-Fetoproteínas/análiseAssuntos
Adaptação Psicológica , Atitude Frente a Saúde , Imagem Corporal , Hemocromatose/psicologia , Doença Crônica , Comunicação , Hemocromatose/enfermagem , Saúde Holística , Humanos , Papel do Profissional de Enfermagem/psicologia , Relações Enfermeiro-Paciente , Autocuidado/psicologia , Apoio SocialAssuntos
Hemocromatose/diagnóstico , Hemocromatose/enfermagem , Avaliação em Enfermagem/métodos , Terapia por Quelação/métodos , Terapia por Quelação/enfermagem , Ferritinas/sangue , Testes Genéticos , Hemocromatose/sangue , Hemocromatose/genética , Hemocromatose/patologia , Humanos , Fígado/patologia , Masculino , Pessoa de Meia-Idade , Papel do Profissional de Enfermagem , Flebotomia/métodos , Flebotomia/enfermagem , Transferrina/metabolismoRESUMO
Hereditary hemochromatosis (HH) is an autosomal recessive iron overload disorder that affects more than one million Americans. This underdiagnosed disorder is associated with high morbidity and mortality, which can be prevented with early identification and treatment. A DNA test that can identify asymptomatic at-risk individuals before biochemical indicators are positive is available commercially. Nurses need current knowledge about HH for two main reasons: (1) to ensure that at-risk individuals receive comprehensive information before genetic testing, and (2) to play a significant role in preventing chronic morbidity and premature death caused by HH.
Assuntos
Hemocromatose/genética , Adulto , Criança , Feminino , Testes Genéticos , Genótipo , Hemocromatose/enfermagem , Hemocromatose/fisiopatologia , Hemocromatose/terapia , Humanos , Masculino , FenótipoAssuntos
Hemocromatose/terapia , Flebotomia/enfermagem , Policitemia/terapia , Animais , Sangria/história , Europa (Continente) , Hemocromatose/enfermagem , História do Século XVIII , História do Século XIX , História Antiga , História Medieval , Humanos , Sanguessugas , Flebotomia/métodos , Policitemia/enfermagem , Estados UnidosRESUMO
Recent developments in genetics mean that this previously specialised subject is now essential knowledge for all nurses. Heather Skirton and Christine Patch describe how fundamental knowledge of the new genetics will enable nurses to help patients through the maze of choices open to them.
Assuntos
Aconselhamento Genético , Genética Médica , Conhecimentos, Atitudes e Prática em Saúde , Recursos Humanos de Enfermagem , Adulto , Feminino , Deformidades Congênitas do Pé/genética , Deformidades Congênitas do Pé/enfermagem , Hemocromatose/genética , Hemocromatose/enfermagem , Humanos , Neoplasias Renais/genética , Neoplasias Renais/enfermagem , Masculino , Pessoa de Meia-Idade , LinhagemRESUMO
Community and home healthcare nurses can play important roles in identifying early symptoms of hemochromatosis, encouraging diagnostic screening and assisting with prompt treatment of this potentially fatal disorder. When hemochromatosis is detected early, organ damage often can be prevented.
Assuntos
Enfermagem em Saúde Comunitária , Hemocromatose/enfermagem , Serviços de Assistência Domiciliar , Hemocromatose/sangue , Hemocromatose/complicações , Humanos , Educação de Pacientes como Assunto , Flebotomia , PrognósticoRESUMO
Hemochromatosis results when the body's iron stores progressively increase. Surplus iron stored in body tissues leads to organ dysfunction and death. Warnings that elevated iron stores increase the risk of cancer development necessitate a review of this condition. Two types of hemochromatosis, hereditary and secondary, are diagnosed in today's hematology-oncology practices. Distinguishing the differences with respect to etiology and management is essential to the risk assessment and long-term nursing management of this patient population.