Create issue ticket

11 Possible Causes for Dyspnea at Rest, Mutation in the Hereditary Hemochromatosis Gene

  • Heart Failure

    These include, among others: Dyspnea ( exertional-, dyspnea at rest, orthopnea, paroxysmal nocturnal dyspnea); Fatigue, inadequate exhaustion after stress, weakness, lethargy[flexikon.doccheck.com] 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] […] hemochromatosis or with lifetime transfusion requirements as seen in beta-thalassemia major. 176 Hereditary hemochromatosis, an autosomal recessive disorder, is the most common hereditary[doi.org]

  • Congestive Heart Failure

    Initially dyspnea occurs only at exertion. Later on orthopnea and paroxysmal nocturnal dyspnea also develop. Later on dyspnea occurs even at rest.[symptoma.com] 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] When congestive heart failure worsens, fluid backs up into the lungs and interferes with oxygen getting into the blood, causing dyspnea at rest and at night (orthopnea).[emedicinehealth.com]

  • Hemolytic Anemia

    A resting tachycardia with a flow murmur may be present if the anemia is pronounced.[aafp.org] 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] The patient may complain of dyspnea or fatigue (caused by anemia). Dark urine and, occasionally, back pain may be reported by patients with intravascular hemolysis.[aafp.org]

  • Hemochromatosis-related Cardiomyopathy

    There are five useful clinical signs to establish the presence and severity of cardiomyopathy: general appearance (cachexia and dyspnea at rest indicate severe impairment)[clevelandclinicmeded.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]

  • Massive Hepatic Necrosis

    Clinical Course: He was treated medically for his chronic congestive heart failure, but con- tinued to have chest pain, hemoptysis, and dyspnea even at rest, and developed[nap.edu] Metabolic Disorders Hemochromatosis Hereditary hemochromatosis Mutations involving hereditary hemochromatosis gene HFE Unrestricted re-absorption of iron in the small intestines[slideshare.net]

  • Restrictive Cardiomyopathy

    There are five useful clinical signs to establish the presence and severity of cardiomyopathy: general appearance (cachexia and dyspnea at rest indicate severe impairment)[clevelandclinicmeded.com] 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] Several mutations in genes involving iron absorption and metabolism can cause HH and influence clinical manifestations, severity of disease, and response to therapy.[circres.ahajournals.org]

  • Congenital Absence of Ductus Arteriosus

    […] rate) Cyanosis (a blue-ish skin color due to a lack of oxygen), primarily affecting the lower extremities Dyspnea (shortness of breath) Poor feeding Weight loss Failure to[verywell.com] Mutations of this gene are known to be associated with hereditary juvenile hemochromatosis ( 17, 18 ).[spandidos-publications.com] […] result in more significant symptoms, including: Lethargy and weakness Fast or labored breathing Bounding (very strong) pulse Tachycardia (a heart rate exceeding the normal resting[verywell.com]

  • Familial Isolated Dilated Cardiomyopathy Type 2A

    There are five useful clinical signs to establish the presence and severity of cardiomyopathy: general appearance (cachexia and dyspnea at rest indicate severe impairment)[clevelandclinicmeded.com] Return to Testing Services Hereditary Hemochromatosis Hereditary hemochromatosis is an autosomal recessive disorder.[cheo.on.ca] […] mitral valve cusp towards the septum LVOT pressure gradient via doppler echocardiography Provocation tests (see below) are obligatory if no obstruction is discernible at rest[amboss.com]

  • Alpha-Thalassemia - Myelodysplasia Syndrome

    It is evaluated at 100-percent for hemoglobin of 5gm/100ml or less, with findings such as high-output congestive heart failure or dyspnea at rest.[federalregister.gov] Hereditary hemochromatosis : Aetna considers genetic testing for HFE gene mutations medically necessary for persons who meet all of the following criteria: Member who has[aetna.com] It is evaluated at 70-percent for hemoglobin of 7gm/100ml or less, with findings such as dyspnea on mild exertion, cardiomegaly, tachycardia (100 to 120 beats per minute)[federalregister.gov]

  • Familial Hypertrophic Cardiomyopathy 11

    Rest echocardiogram did not show evidence of LVOTO.[journals.lww.com] Return to Testing Services Hereditary Hemochromatosis Hereditary hemochromatosis is an autosomal recessive disorder.[cheo.on.ca] Two uncles of the index patient (IV-4 and IV-5) showed very similar clinical pictures: they both suffered from exertional dyspnea, had permanent atrial fibrillation, and hypertrophic[journals.lww.com]

Further symptoms