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The American Journal of Gastroenterology Feb 2015This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a... (Review)
Review
This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.
Topics: Adenomatous Polyposis Coli; Colorectal Neoplasms, Hereditary Nonpolyposis; Disease Management; Gastrointestinal Neoplasms; Genetic Testing; Hamartoma Syndrome, Multiple; Humans; Intestinal Polyposis; Neoplastic Syndromes, Hereditary; Peutz-Jeghers Syndrome
PubMed: 25645574
DOI: 10.1038/ajg.2014.435 -
WMJ : Official Publication of the State... Apr 2022Hereditary angioedema (HAE) is a rare and disabling disorder wherein there is excessive bradykinin production, with subsequent increased vascular permeability in the... (Review)
Review
Hereditary angioedema (HAE) is a rare and disabling disorder wherein there is excessive bradykinin production, with subsequent increased vascular permeability in the superficial tissues and gastrointestinal and respiratory mucosa. This article serves as a review of the pathogenesis of the disease, as well as an update of the evidence-based new treatment recommendations to help clinicians with the diagnosis and management of HAE.
Topics: Angioedemas, Hereditary; Blindness; Bradykinin; Complement C1 Inhibitor Protein; Humans
PubMed: 35442579
DOI: No ID Found -
Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.Haematologica Sep 2018Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. The... (Review)
Review
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. The diagnosis of hereditary hemorrhagic telangiectasia is clinical, based on the Curaçao criteria. Genetic mutations that have been identified include , , and , among others. Patients with HHT may have telangiectasias and arteriovenous malformations in various organs and suffer from many complications including bleeding, anemia, iron deficiency, and high-output heart failure. Families with the same mutation exhibit considerable phenotypic variation. Optimal treatment is best delivered a multidisciplinary approach with appropriate diagnosis, screening and local and/or systemic management of lesions. Anti-angiogenic agents such as bevacizumab have emerged as a promising systemic therapy in reducing bleeding complications but are not curative. Other pharmacological agents include iron supplementation, antifibrinolytics and hormonal treatment. This review discusses the biology of HHT, management issues that face the practising hematologist, and considerations of future directions in HHT treatment.
Topics: Animals; Biomarkers; Clinical Trials as Topic; Combined Modality Therapy; Disease Management; Disease Susceptibility; Genetic Association Studies; Humans; Mutation; Phenotype; Telangiectasia, Hereditary Hemorrhagic; Treatment Outcome
PubMed: 29794143
DOI: 10.3324/haematol.2018.193003 -
Blood May 2023
Topics: Humans; Angioedemas, Hereditary; Complement C1 Inhibitor Protein; Thrombosis; Venous Thrombosis; Blood Coagulation
PubMed: 37166925
DOI: 10.1182/blood.2023019861 -
Acta Haematologica 2018With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1,... (Review)
Review
With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. However, mutations in HS-related genes are dispersed and nonspecific in the diagnosis of some HS patients, indicating significant heterogeneity in the molecular deficiency of HS. It is necessary to provide the molecular and genetic characteristics of these 5 genes for clinicians to examine HS. Here, we reviewed the recent proposed molecular genetic mechanisms of HS.
Topics: Biomarkers; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Mutation; Spherocytosis, Hereditary
PubMed: 29402830
DOI: 10.1159/000486229 -
Lancet (London, England) Feb 2012Hereditary angio-oedema is caused by a heterozygous deficiency of C1 inhibitor. This inhibitor regulates several inflammatory pathways, and patients with hereditary... (Review)
Review
Hereditary angio-oedema is caused by a heterozygous deficiency of C1 inhibitor. This inhibitor regulates several inflammatory pathways, and patients with hereditary angio-oedema have intermittent cutaneous or mucosal swellings because of a failure to control local production of bradykinin. Swellings typically evolve in several hours and persist for a few days. In addition to orofacial angio-oedema, painless swellings affect peripheries, which causes disfigurement or interference with work and other activities of daily living. Angio-oedema affecting the gastrointestinal tract or abdominal viscera causes severe pain often with vomiting due to oedematous bowel obstruction. About 2% of swellings involve the larynx and can be fatal if untreated. About 50% of patients have laryngeal swellings that are potentially fatal despite prophylaxis. In this Seminar we review the clinical features, diagnosis, and management of hereditary angio-oedema, with specific emphasis on the new treatments available for acute swellings.
Topics: Angioedemas, Hereditary; Diagnosis, Differential; Humans
PubMed: 22305226
DOI: 10.1016/S0140-6736(11)60935-5 -
Allergy and Asthma Proceedings Sep 2018
Topics: Angioedemas, Hereditary; Humans
PubMed: 30153885
DOI: 10.2500/aap.2018.39.4169 -
Best Practice & Research. Clinical... Jun 2019Myelodysplastic syndromes and acute myeloid leukemia are sporadic for the majority of cases affecting the elderly population. Inherited cases, however, do occur. Genetic... (Review)
Review
Myelodysplastic syndromes and acute myeloid leukemia are sporadic for the majority of cases affecting the elderly population. Inherited cases, however, do occur. Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with increased risk of various malignancies including myelodysplasia and acute myeloid leukemia such as Li-Fraumeni syndrome and constitutional mismatch repair deficiency (CMMRD); germline mutations conferring a specific increased risk of myelodysplastic syndrome and acute myeloid leukemia such as mutations in ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes; and finally primarily pediatric inherited bone marrow failure syndromes such as Fanconi anemia, dyskeratosis congenita, severe congenital neutropenia, Shwachman-Diamond syndrome and Diamond Blackfan anemia. The recognition of these germline syndromes is essential in the management and follow-up of patients. Herein, we review the conditions associated with hereditary myeloid leukemia with a special clinical focus on management and monitoring.
Topics: Germ-Line Mutation; Hematologic Neoplasms; Humans; Myeloproliferative Disorders; Neoplasm Proteins; Neoplastic Syndromes, Hereditary
PubMed: 31203998
DOI: 10.1016/j.beha.2019.05.001 -
Balkan Medical Journal Mar 2021This review aims to summarize the main pathophysiological events involved in the development of hereditary angioedema (OMIM#106100). Hereditary angioedema is a rare... (Review)
Review
This review aims to summarize the main pathophysiological events involved in the development of hereditary angioedema (OMIM#106100). Hereditary angioedema is a rare genetic disease inherited in an autosomal dominant manner and caused by a loss of control over the plasma contact system or kallikrein-kinin system, which results in unrestrained bradykinin generation or signaling. In patients with hereditary angioedema, BK binding to endothelial cells leads to recurrent episodes of swelling at subcutaneous or submucosal tissues that can be life threatening when affecting the upper respiratory tract. The disease can either present with hypocomplementemia owing to the presence of pathogenic variants in the gene encoding complement C1 inhibitor (hereditary angioedema with C1-inhibitor deficiency) or present with normocomplementemia and associate with elevated estrogen levels owing to gain-of-function variants in the genes encoding coagulation proteins involved in the kallikrein-kinin system (namely, coagulation FXII [FXII-associated hereditary angioedema], plasminogen [PLG-associated hereditary angioedema], and high-molecular-weight kininogen [KNG1-associated hereditary angioedema]). Moreover, in recent years, novel pathogenic variants have been described in the genes encoding angiopoietin 1 (ANGPT1-associated hereditary angioedema) and myoferlin (MYOF-associated hereditary angioedema), which further expand the pathophysiological picture of hereditary angioedema.
Topics: Angioedemas, Hereditary; Complement C1 Inhibitor Protein; Humans; Kallikrein-Kinin System; Peptide Hydrolases
PubMed: 33233873
DOI: 10.4274/balkanmedj.galenos.2020.2020.10.166 -
Allergy and Asthma Proceedings Mar 2021
Topics: Abdominal Pain; Allergy and Immunology; Angioedemas, Hereditary; Anti-Allergic Agents; Biomedical Research; Decision Making, Shared; Epinephrine; Food Hypersensitivity; Humans; Patient Participation; Quality of Life
PubMed: 33685554
DOI: 10.2500/aap.2021.42.210009