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Gastroenterology
Published in Kristen Davies, Shadaba Ahmed, Core Conditions for Medical and Surgical Finals, 2020
Hereditary hemochromatosis: Inherited disorder of iron metabolism. Deposition of iron in organs leads to skin pigmentation, diabetes, chronic liver disease, hepatomegaly, osteoporosis, arthralgia and cardiomyopathy. Bloods show ↑ AST, ↑ ALT, ↑ ferritin, ↑ serum iron, ↓ TIBC. Treatment is with venesection.
The minerals
Published in Geoffrey P. Webb, Nutrition, 2019
As there is no physiological mechanism for excreting excess iron, iron overload and toxicity is a major problem for those with certain conditions that require repeated blood transfusions e.g. the inherited blood disorder, thalassemia and aplastic anaemia (bone marrow failure). Drugs that bind or chelate iron and facilitate its excretion can be used to treat or prevent iron overload. Hereditary haemochromatosis is an inherited condition in which there is chronic overabsorption of iron which can lead to liver and other tissue damage unless it is treated by regular therapeutic bleeding.
Case 9: Loss of Libido
Published in Iqbal Khan, Medical Histories for the MRCP and Final MB, 2018
This man seems to be suffering with a genuine loss of libido with normal erectile function. This coupled with the other clues of abnormal liver biochemistry, joint pain, lethargy and the recent diagnosis lead us to the possible diagnosis of hereditary haemochromatosis.
Hyperferritinemia with iron deposition in the basal ganglia and tremor as the initial manifestation of follicular lymphoma
Published in International Journal of Neuroscience, 2023
Hussein Algahtani, Ahmed Absi, Bader Shirah, Hatim Al-Maghraby, Hussam Algarni
Clinical iron deposition disease is most likely the result of hereditary hemochromatosis, which is an autosomal recessive disorder characterized by increased absorption of intestinal iron, which in some cases can lead to excessive iron stores and end-organ damage. Organs that are mostly known to be affected are the liver, heart, pancreas, skin, joints, and the pituitary gland [11]. Our patient had normal whole-exome sequencing, which should rule out primary hemochromatosis. Iron deposition disease can also be sometimes secondary, and most likely this would be secondary to excessive long-term transfusions and/or ineffective erythropoiesis [12]. Even though ferritin is an acute-phase reactant that can increase with a variety of inflammatory, infectious, and malignant conditions, as far as we are concerned, it is not known to cause secondary hemochromatosis.
Oral ferroportin inhibitor vamifeport for improving iron homeostasis and erythropoiesis in β-thalassemia: current evidence and future clinical development
Published in Expert Review of Hematology, 2021
John Porter, Ali Taher, Vip Viprakasit, Antonis Kattamis, Thomas D Coates, Maciej Garbowski, Franz Dürrenberger, Vania Manolova, Frank Richard, M. Domenica Cappellini
The effects of vamifeport have been evaluated in several animal disease models (Table 3). The selection of doses tested in the preclinical models was based on dose-optimization pilot studies in the respective models. A murine model of hereditary hemochromatosis (HFE C282Y) was used to determine the impact of vamifeport on serum and organ iron concentrations. This disease is a result of mutations in genes encoding components that regulate iron homeostasis through the hepcidin–ferroportin axis, causing excessive intestinal absorption of dietary iron and pathological iron overload. Mice fed a low-iron diet were dosed with vamifeport 40 or 110 mg/kg along with stable iron isotope (58Fe) in the drinking water, with the concentration adjusted to 250 ppm iron content to correspond to the iron intake of a standard rodent diet. At the end of the study period, vamifeport had resulted in the correction of serum iron to the levels of wild-type mice and prevented iron retention in the livers of the hemochromatosis mice [51,53].
Arthropathy in hereditary haemochromatosis segregates with elevated erythrocyte mean corpuscular volume
Published in Scandinavian Journal of Rheumatology, 2021
A Rehman, GJ Carroll, LW Powell, LE Ramm, GA Ramm, JK Olynyk
Hereditary haemochromatosis (HH) is an iron overload disorder affecting 1 in 200 individuals of northern European descent (1), usually caused by a homozygous C282Y mutation in the HFE gene (2, 3). Up to 30% of individuals homozygous for C282Y may develop significant disease from iron overload, including HH-related arthropathy (4). HH arthropathy was first described by Schumacher in 1964 and affects up to 81% of subjects (5). It is a significant cause of morbidity, disability, and reduced quality of life (6). Classically, arthropathy affects the finger metacarpophalangeal (MCP) joints and other joints such as the hips, ankles, radiocarpal, elbow, shoulder, and knee joints, as well as the lumbar spine (7). It is unclear why arthropathy affects only a subset of people with HH, or whether it can be predicted.