Haemochromatosis patients' research priorities: Towards an improved quality of life.

Background: Chronic diseases are associated with a range of functional and psychosocial consequences that can adversely affect patients' quality of life (QoL). Haemochromatosis (HC) is a genetically heterogeneous disorder characterized by chronic iron overload that can ultimately lead to multiple organ dysfunction. Clinical diagnosis remains challenging due to the nonspecificity of symptoms and a lack of confirmatory genotyping in a substantial proportion of patients.

The Spectrum of Autoantibodies in Adult Patients With Idiopathic Pulmonary Hemosiderosis: A Brief Review of the Literature.

While autoimmune antibodies or autoantibodies have been reported sporadically in adult patients with idiopathic pulmonary hemosiderosis (IPH), their true prevalence is unknown. The question as to whether any difference exists between antibody-positive and negative patients has not been explored. The primary objective of this paper was to assess the spectrum of autoantibody testing and its positivity rate.

Liposteroid Therapy for Idiopathic Pulmonary Hemosiderosis: A Scoping Review of the Literature.

Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of diffuse alveolar hemorrhage (DAH). Glucocorticosteroids (CS) represent the first line therapy for IPH. Although most patients respond to CS, steroid refractoriness is seen in an appreciable minority of patients.

Comparative Analysis of Adult Patients With Idiopathic Pulmonary Hemosiderosis and Lane-Hamilton Syndrome: A Systematic Review of the Literature in the Period 1971-2022.

Idiopathic pulmonary hemosiderosis (IPH) causes diffuse alveolar hemorrhage (DAH) by a yet unknown mechanism. The coexistence of IPH and celiac disease (CD), also known as Lane-Hamilton syndrome (LHS), has been reported in both pediatric and adult patients. The objective of this study was to compare demographics, clinical and radiologic findings, treatment, and outcomes between adult patients with IPH and LHS.

Prevalence of autoantibodies in pediatric patients with idiopathic pulmonary hemosiderosis: a scoping review of the literature in the period 1980-2021.

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease of unknown etiology. Due to the frequent findings of autoimmune antibodies - autoantibodies, immunologic causation of the diffuse alveolar hemorrhage in IPH has been proposed, to assess the prevalence/frequency and type of autoantibodies in pediatric patients with IPH. In addition, the patient demographics, diagnostic modalities used to diagnose IPH, treatment, and outcomes were also evaluated.

Short Review of Liposteroid: A Novel Targeted Glucocorticoid Preparation for Treatment of Autoimmune and Inflammatory Diseases.

This paper briefly reviews the safety and efficacy of liposteroid in different inflammatory and non-inflammatory diseases. Corticosteroids (CS) are the first-line therapy in many inflammatory and autoimmune disorders. Although highly efficacious, long-term use of CS is limited due to the occurrence of significant side effects.

Differentiation of idiopathic pulmonary hemosiderosis from rheumatologic and autoimmune diseases causing diffuse alveolar hemorrhage: establishing a diagnostic approach.

This narrative review provides an overview of diffuse alveolar hemorrhage (DAH) associated with rheumatologic and autoimmune diseases and their differentiation from idiopathic pulmonary hemosiderosis (IPH). Relevant immunologic diseases associated with DAH are discussed, and a diagnostic flowchart is proposed to establish a "definitive" diagnosis of IPH within the spectrum of DAH. IPH is a rare cause of recurrent DAH both in children and adults.

Managing Genetic Hemochromatosis: An Overview of Dietary Measures, Which May Reduce Intestinal Iron Absorption in Persons With Iron Overload.

Genetic hemochromatosis causes iron overload by excess absorption of dietary iron, due to a decreased expression of hepcidin. The objective was to elaborate dietary recommendations that can reduce intestinal iron absorption in hemochromatosis patients, based on our present knowledge of the iron contained in nutrients and the mechanisms of iron uptake. This is a narrative review.

Idiopathic pulmonary hemosiderosis: a review of the treatments used during the past 30 years and future directions.

This paper reviews the literature on the treatment modalities for idiopathic pulmonary hemosiderosis (IPH) used over the past 30 years, attempting to define treatment options that appear to be efficacious and safe, and in addition presents a treatment algorithm. IPH is an uncommon etiology of diffuse alveolar hemorrhage. IPH is a rare disease in adults and often associated with a significant temporal delay in diagnosis.

A Review of Nutrients and Compounds, Which Promote or Inhibit Intestinal Iron Absorption: Making a Platform for Dietary Measures That Can Reduce Iron Uptake in Patients with Genetic Haemochromatosis.

Objective: To provide an overview of nutrients and compounds, which influence human intestinal iron absorption, thereby making a platform for elaboration of dietary recommendations that can reduce iron uptake in patients with genetic haemochromatosis.

Design: Review. .

Dietary Iron Intake in Pregnant Women in Europe: A Review of 24 Studies from 14 Countries in the Period 1991-2014.

Objective: Assessment of dietary iron intake in pregnant women in Europe.

Design: Review. .

Diagnosis and Treatment of Genetic -Hemochromatosis: The Danish Aspect.

This paper outlines the Danish aspects of -hemochromatosis, which is the most frequent genetic predisposition to iron overload in the five million ethnic Danes; more than 20,000 people are homozygous for the C282Y mutation and more than 500,000 people are compound heterozygous or heterozygous for the -mutations. The disorder has a long preclinical stage with gradually increasing body iron overload and eventually 30% of men will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease and diabetes. Subsequently the disease may progress into irreversible arthritis, liver cirrhosis, cardiomyopathy, pancreatic fibrosis and osteoporosis.

Dietary Iron Intake in Women of Reproductive Age in Europe: A Review of 49 Studies from 29 Countries in the Period 1993-2015.

Objective: Assessment of dietary iron intake in women of reproductive age in Europe.

Design: Review.

Setting: Literature search of dietary surveys reporting intake of iron using PubMed, Internet browsers, and national nutrient databases in the period 1993-2015.

[Genetic HFE-haemochromatosis].

HFE-haemochromatosis is the most frequent genetic disposition for iron overload in ethnic Danes: 20,000 persons are homozygous for the C282Y mutation. The disorder has a long preclinical phase with increasing body iron overload, and 30% of males will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease, diabetes and liver disease, later progressing into cirrhosis, cardio-myo-pathy, pancreatic fibrosis and osteoporosis. Treatment consists of phlebotomies, which in the preclinical and early clinical phases ensure normal survival.

Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype.

Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training.

Iron status in pregnant women and women of reproductive age in Europe.

Understanding the iron status in pregnant women in Europe provides a foundation for considering the role of iron screening and supplementation. However, available reports and studies have used different approaches that challenge the devising of overall summaries. Moreover, data on pregnant women are limited, and thus, data on women of reproductive age provide useful background information including baseline iron stores in pregnant women.

Ferric carboxymaltose vs. oral iron in the treatment of pregnant women with iron deficiency anemia: an international, open-label, randomized controlled trial (FER-ASAP).

Objective: To compare the efficacy and safety of intravenous ferric carboxymaltose (FCM) with first-line oral ferrous sulfate (FS) in pregnant women with iron deficiency anemia (IDA).

Materials And Methods: Pregnant women (n=252; gestational weeks 16-33) with IDA were randomized 1:1 to FCM (1000-1500 mg iron) or FS (200 mg iron/day) for 12 weeks. The primary objective was to compare efficacy; secondary objectives included safety and quality of life.

Supplementation during pregnancy: beliefs and science.

Pregnancy represents a challenge from a nutritional perspective, because micronutrient intake during the periconceptional period and in pregnancy affects fetal organ development and the mother's health. Inappropriate diet/nutrition in pregnancy can lead to numerous deficiencies including iron deficiency and may impair placental function and play a role in miscarriage, intrauterine growth restriction, preterm delivery, and preeclampsia. This article reviews the risks associated with nutrient deficiencies in pregnant women and presents an overview of recommendations for dietary supplementation in pregnancy, focusing on oral iron supplementation.

[Post-partum iron deficiency anaemia].

Post-partum anaemia is an important global health issue. It is associated with increased maternal morbidity and mortality. This article focuses on the prevalence, causes and consequences of post-partum anaemia in Western countries.

[Iron deficiency and pregnancy after gastric bypass surgery].

In Denmark, the number of women in reproductive age having Roux-en-Y gastric bypass surgery increased in the period 2007-2010. The malabsorption related to the operation implies a predisposition to macro- and micronutrient deficiencies, which in pregnancy may influence the development of the foetus. The article concerns the need for managing the malabsorption syndrome, iron deficiency in particular, both in antenatal care, during pregnancy, delivery and in the lactation period.

Ferrous bisglycinate 25 mg iron is as effective as ferrous sulfate 50 mg iron in the prophylaxis of iron deficiency and anemia during pregnancy in a randomized trial.

Objective: To compare the effects of oral ferrous bisglycinate 25 mg iron/day vs. ferrous sulfate 50 mg iron/day in the prevention of iron deficiency (ID) and iron deficiency anemia (IDA) in pregnant women.

Design: Randomized, double-blind, intention-to-treat study.

The association between content of the elements S, Cl, K, Fe, Cu, Zn and Br in normal and cirrhotic liver tissue from Danes and Greenlandic Inuit examined by dual hierarchical clustering analysis.

Project: Meta-analysis of previous studies evaluating associations between content of elements sulphur (S), chlorine (Cl), potassium (K), iron (Fe), copper (Cu), zinc (Zn) and bromine (Br) in normal and cirrhotic autopsy liver tissue samples.

Procedure: Normal liver samples from 45 Greenlandic Inuit, median age 60 years and from 71 Danes, median age 61 years. Cirrhotic liver samples from 27 Danes, median age 71 years.