Presentation
The present study by Wu et al provides novel and critical molecular insights into how HFE connects to BMP/SMAD signaling. [bloodjournal.org]
If the mutation is not present, HH is not the reason for the iron buildup and the doctor will look for other causes. [gi.org]
Entry status i Reviewed (UniProtKB/Swiss-Prot) Annotation program Chordata Protein Annotation Program Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Entire Body System
-
Fatigue
The patient was relatively healthy but had complained of decreased energy and fatigue for 3 to 4 months preceding the evaluation by her primary care physician. There was no history of weight loss, melena, hematochezia, or chronic emesis. [pediatrics.aappublications.org]
Many of the early symptoms of HH are nonspecific, including weakness and fatigue, impotence or decreased sex drive in men, early menopause in women and general muscle aches and abdominal pain. [gi.org]
The symptoms of cirrhosis of the liver are wide and varied and can be as mild as fatigue, but then ultimately lead to symptoms of end-stage liver disease like abdominal swelling, leg swelling, jaundice, et cetera. [med.unc.edu]
-
Asymptomatic
However, with such a high prevalence of HH it is safe to say that all pediatricians have seen an affected child, but in the asymptomatic period. [pediatrics.aappublications.org]
Barritt: Many patients with hemochromatosis are actually asymptomatic for a long period of time. Falk: In other words, they don’t know they have it. Barritt: They don’t know they have it at all. [med.unc.edu]
Gastrointestinal
-
Abdominal Pain
Many of the early symptoms of HH are nonspecific, including weakness and fatigue, impotence or decreased sex drive in men, early menopause in women and general muscle aches and abdominal pain. [gi.org]
It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. [uniprot.org]
Cardiovascular
-
Heart Failure
If not treated, hemochromatosis can lead to: Liver function problems and an enlarged liver Abnormal heart rhythm Heart failure Enlarged spleen Diabetes Living with hemochromatosis Hemochromatosis is a life-long condition. [healthlibrary.uchospitals.edu]
Complications include liver cirrhosis, cancer, diabetes, heart failure, and arthritis that can be prevented by phlebotomy. [bloodjournal.org]
If untreated, or not diagnosed early enough, iron will continue to build up in the organs and can lead to: Diabetes Joint pain Abnormal heart rhythms Heart failure Cirrhosis of the liver, liver failure, or (rarely) liver cancer Many patients with advanced [gi.org]
In some situations, patients will complain of fatigue, especially if there is excess iron overload in the heart, creating some degree of heart failure. If patients have excess iron overload in the joints, they can have arthritis. [med.unc.edu]
Neurologic
-
Lethargy
Early symptoms may include lethargy and weakness, irritability, depression, joint pain, yellowish skin, and loss of body hair. Regular treatment with phlebotomy or chelation therapy is needed to reduce iron levels. [healthlibrary.uchospitals.edu]
Urogenital
-
Amenorrhea
[…] regression analysis model retained BMI (β 0.263, P 0.003) and PCOS status (β 0.238, P 0.007) as predictive variables of serum ferritin levels ( R 2 0.127, F 8.557, P 0.001), whereas carrier status for C282Y and/or H63D mutations, as well as having oligo/amenorrhea [care.diabetesjournals.org]
Workup
Biopsy
-
Liver Biopsy
Reasons for a liver biopsy Falk: Now sometimes you do a liver biopsy. Barritt: That’s correct. Falk: What are the reasons you would do that? Barritt: There are two reasons for a liver biopsy. [med.unc.edu]
A liver biopsy should be recommended for anyone with HH who has a ferritin level over 1000 μg/L and/or abnormal liver function test results. [gi.org]
Treatment
Treatment may include: Phlebotomy. [healthlibrary.uchospitals.edu]
If treatment begins before organs are damaged, associated conditions—such as liver disease, heart disease, arthritis, and diabetes—can be prevented. [gi.org]
Treating hereditary hemochromatosis Falk: What, then, is the treatment for hereditary hemochromatosis? Barritt: The treatment is actually quite simple: it’s phlebotomy. If the body loses blood— Falk: Like bleeding in days of old. Barritt: Right. [med.unc.edu]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.org]
Prevention
Complications include liver cirrhosis, cancer, diabetes, heart failure, and arthritis that can be prevented by phlebotomy. [bloodjournal.org]
One of the principle tasks of the pediatrician is prevention; HH is a condition that, identified in the presymptomatic period, can be treated, avoiding potentially life-threatening complications. [pediatrics.aappublications.org]
If treatment begins before organs are damaged, associated conditions—such as liver disease, heart disease, arthritis, and diabetes—can be prevented. [gi.org]
We will not share your individual-level information with any third party without your explicit consent We have been long-time supporters of legislative efforts intended to prevent genetic discrimination and to safeguard individuals' genetic privacy and [23andme.com]