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]

Elevated levels (> 200 ng/mL [> 200 mcg/L] in women or >250 ng/mL [> 250 mcg/L] in men) are usually present in hereditary hemochromatosis but can result from other abnormalities, such as inflammatory liver disorders (eg, chronic viral hepatitis, nonalcoholic [merckmanuals.com]

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]

  However, organ damage is slow and subtle, and fatigue and nonspecific systemic symptoms and signs often occur early. For example, liver dysfunction can manifest insidiously with fatigue, right upper quadrant abdominal pain, and hepatomegaly. [merckmanuals.com]

  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]

• 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]

  For example, liver dysfunction can manifest insidiously with fatigue, right upper quadrant abdominal pain, and hepatomegaly. Laboratory abnormalities of iron overload and hepatitis usually precede symptoms. [merckmanuals.com]

  It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. [uniprot.org]

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]

Treatment is usually with serial phlebotomies. There are 4 types of hereditary hemochromatosis, types 1 through 4, depending on the gene that is mutated. [merckmanuals.com]

Because the presence of cirrhosis affects prognosis, when the ferritin is > 1000 ng/mL, liver biopsy is commonly done and tissue iron content is measured (when available). [merckmanuals.com]

Symptoms and Signs of Hereditary Hemochromatosis The clinical consequences of iron overload are the same regardless of the etiology and pathophysiology of the overload. [merckmanuals.com]

Symptoms and Signs of Hereditary Hemochromatosis The clinical consequences of iron overload are the same regardless of the etiology and pathophysiology of the overload. [merckmanuals.com]

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]

It delays progression of fibrosis to cirrhosis, sometimes even reversing cirrhotic changes, and prolongs survival, but it does not prevent hepatocellular carcinoma. [merckmanuals.com]

If treatment begins before organs are damaged, associated conditions—such as liver disease, heart disease, arthritis, and diabetes—can be prevented. [gi.org]