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35 Possible Causes for Exertional Dyspnea, Mutation in the Hereditary Hemochromatosis Gene

  • Hemochromatosis

    A woman in her 70s was admitted with progressive dyspnea on exertion.[jsum.or.jp] Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes.[ncbi.nlm.nih.gov] Gene mutations that cause hemochromatosis A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents.[mayoclinic.com]

  • Iron Deficiency

    Typical anemia symptoms include: Fatigue, weakness Irritability Exercise/feeding intolerance Exertional dyspnea Headache, vertigo Pale skin Symptoms of iron deficiency include[danafarberbostonchildrens.org] A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399–408. PubMed CrossRef Google Scholar 8.[doi.org] These signs and symptoms, including lethargy, malaise, headaches, pallor, decreased activity tolerance, tachycardia, palpitations, and dyspnea on exertion may result from[clinicaladvisor.com]

  • Heart Failure

    Here we present an 80-year-old Asian woman complaining of progressive exertional dyspnea.[ncbi.nlm.nih.gov] The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org] dyspnea The principal difference between exertional dyspnea in patients who are healthy and exertional dyspnea in patients with heart failure is the degree of activity necessary[emedicine.medscape.com]

  • Hereditary Spherocytosis

    Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene.[ncbi.nlm.nih.gov]

  • Restrictive Cardiomyopathy

    dyspnea and palpitations.[ncbi.nlm.nih.gov] Cardiac Hemochromatosis Hereditary hemochromatosis (HH) is caused by increased absorption of dietary iron, which accumulates in various organs, leading to their dysfunction[circres.ahajournals.org] It usually manifests as a progressive heart failure with fatigue, exertional dyspnea and edema.[symptoma.com]

  • Hemochromatosis-related Cardiomyopathy

    Important items in the review of systems: angina, dyspnea, dyspnea on exertion, palpitations, lower extremity edema, diarrhea, flushing, dysphagia, urinary frequency, change[clinicaladvisor.com] Classic hereditary hemochromatosis is caused by mutations of the HFE gene.[rarediseases.org] Gene assay is diagnostic of hereditary hemochromatosis caused by HFE gene mutations.[merckmanuals.com]

  • Congestive Heart Failure

    A 78-year-old woman presented with mild exertional dyspnea three weeks after starting osimertinib for the treatment of epidermal growth factor receptor (EGFR) T790M-positive[ncbi.nlm.nih.gov] The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org] We present a case of a 70 year-old male presented with exertional dyspnea for 2 months and found to have giant LV pseudo aneurysm on transthoracic echocardiogram, cardiac[ncbi.nlm.nih.gov]

  • Hemolytic Anemia

    Patients with AIHA usually present with acute onset shortness of breath, dyspnea on exertion, palpitations, dizziness, progressive weakness or tiredness.[cancertherapyadvisor.com] We herein report the assessment of glycemic control in a 41-year-old man with dehydrated hereditary stomatocytosis and a PIEZO1 gene mutation complicated by diabetes mellitus[ncbi.nlm.nih.gov] […] and liver cirrhosis due to hemochromatosis.[ncbi.nlm.nih.gov]

  • Porphyria Cutanea Tarda

    A -year-old man develops a nonproductive cough and experiences some decrease in his exertional tol-erance, secondary to dyspnea, and general malaise.[aaets.org] An increased frequency of hereditary hemochromatosis gene mutations occurs in patients with porphyria cutanea tarda.[ncbi.nlm.nih.gov] Mutations in the hereditary hemochromatosis (hh) gene (HFE) explain the siderosis in approximately 20% patients, suggesting that the remaining occurrences result from additional[ncbi.nlm.nih.gov]

  • Microcytic Anemia

    dyspnea.[physicianassistantexamreview.com] […] of iron overload by phlebotomy and coin-heritance of hereditary hemochromatosis.[ncbi.nlm.nih.gov] […] the patient does not typically exhibit many symptoms and those which are present are things like headache, fatigue, dizziness, tachycardia, orthostatic hypertension, and exertional[physicianassistantexamreview.com]

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