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Cirrhosis can also present with jaundice (yellowing of the skin) and ascites. Diabetes mellitus type 2: HH patients have insulin resistance for liver disease, and poor insulin secretion due to pancreatic damage from iron deposition. Erectile dysfunction and hypogonadism, resulting in decreased libido, amenorrhea
Iron deposition most commonly occurs in the liver, pancreas, skin, heart, and joints. People with iron overload classically present with the triad of liver cirrhosis, secondary diabetes mellitus, and bronze skin. [3] However, due to earlier detection nowadays, symptoms are often limited to general chronic malaise, arthralgia, and hepatomegaly. [3]
Hemosiderin deposition in the liver is a common feature of hemochromatosis and is the cause of liver failure in the disease. Selective iron deposition in the beta cells of pancreatic islets leads to diabetes [4] [2] due to the distribution of transferrin receptor on the beta cells of islets [3] and in the skin leads to hyperpigmentation.
In addition to the symptoms listed above, patients with sideroblastic anemia may experience shortness of breath, heart palpitations, and headache. Some patients may have bronze-colored skin due to an overload of iron. Patients with syndromic hereditary sideroblastic anemia may experience diabetes mellitus and deafness. [6]
Hemochromatosis type 4 is a hereditary iron overload disorder that affects ferroportin, an iron transport protein needed to export iron from cells into circulation. [1] Although the disease is rare, it is found throughout the world and affects people from various ethnic groups.
Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder [1] which damages muscle and nerve cells throughout the body.
If you have a gastrointestinal condition like irritable bowel syndrome, Crohn’s Disease, or Celiac Disease, or have had bariatric surgery, you also might have a tougher time absorbing iron and ...
Mitochondrial myopathy literally means mitochondrial muscle disease, muscle disease caused by mitochondrial dysfunction. The mitochondrion is the primary producer of energy in nearly all cells throughout the body. The exception is mature erythrocytes (red blood cells), so that they do not use up the oxygen that they carry.