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Hereditary Hemochromatosis

HFE


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]
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]
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]
  • 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]
  • It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances.[uniprot.org]
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]
Physician
  • 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]
  • I wouldn’t say it’s the most common liver disease that we see, because many people who suffer from alcohol use disorders don’t come to the physician.[med.unc.edu]
Weakness
  • 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]
  • 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]
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]
Melena
  • There was no history of weight loss, melena, hematochezia, or chronic emesis. She was menstruating. The past medical history was significant for benign Rolandic seizures (for which the patient received carbamazepine) and attention …[pediatrics.aappublications.org]
Hypertension
  • It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances.[uniprot.org]
Jaundice
  • 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]
Hyperpigmentation
  • Hereditary hemochromatosis (HH) is a common autosomal recessive disorder of iron metabolism, with a worldwide prevalence in whites of approximately 3 to 5 per 1000 population. 1–3 Unrecognized HH can lead to cirrhosis, diabetes mellitus, hyperpigmentation[pediatrics.aappublications.org]
  • It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances.[uniprot.org]
Irritability
  • 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]

Workup

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]

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