Hereditary haemochromatosis, haemophagocytic lymphohistiocytosis and COVID-19

Riley, Matthew; Irvine, Sharon; Blanchard, Tom; Britton, Edward; Shawki, Howida; Pervaiz, Muhammad Sajid; Fletcher, Tom

doi:10.1016/j.clinpr.2020.100052

Cited by 8 publications

(3 citation statements)

References 21 publications

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“…Mounting evidence points to the detrimental outcomes of viral infections, including SARS-CoV-2, on iron-overloaded individuals. 31,32 It seems, therefore, reasonable that underlying metabolic disturbances could be a risk factor for the development of severe COVID-19 in HC patients. Adding to this, the pandemic outbreak posed significant barriers to diagnosis, treatment and follow-up of chronic diseases as demanding as HC in terms of hospital outpatient treatment.…”

Section: Discussionmentioning

confidence: 99%

“…Responding to uncertainty in health care associated with COVID‐19, a proportion of patients expressed their preoccupation with the repercussions of the pandemic on their health status. Mounting evidence points to the detrimental outcomes of viral infections, including SARS‐CoV‐2, on iron‐overloaded individuals 31,32 . It seems, therefore, reasonable that underlying metabolic disturbances could be a risk factor for the development of severe COVID‐19 in HC patients.…”

Section: Discussionmentioning

confidence: 99%

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

Romero‐Cortadellas,

Venturi,

Martín‐Sánchez

et al. 2023

Health Expectations

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BackgroundChronic 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. Illness perception among HC patients has not been extensively investigated, lacking relevant information on how to improve their QoL.MethodsWe present the results of the first worldwide survey conducted in nearly 1500 HC respondents, in which we collected essential demographic information and identified the aspects that concern HC patients the most.ResultsOut of all the participants, 45.3% (n = 676) voiced their concern about physical and psychological consequences such as HC‐related arthropathies, which can ultimately affect their social functioning. A similar proportion of patients (n = 635, 42.5%) also consider that better‐informed doctors are key for improved HC disease management. Taking a patient‐centred approach, we expose differences in patients' disease perspective by social and economic influences.ConclusionsWe identify potential targets to improve patients' health‐related QoL and reflect on strategic measures to foster gender equity in access to health resources. Finally, we make a call for a highly coordinated effort across a range of public policy areas to empower participants in the HC research process and design.Patient or Public ContributionNearly 1500 patients with hereditary HC responded to an anonymized online survey in which research and clinical priorities were addressed regarding this chronic and rare disease.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

Romero‐Cortadellas,

Venturi,

Martín‐Sánchez

et al. 2023

Health Expectations

View full text Add to dashboard Cite

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“…Severe COVID-19 cases had lower hemoglobin, red blood cell count and higher ferritin levels when compared to moderate cases, whereas ferritin levels were higher in non-survivors when compared to survivors (155) . Iron overload has been proposed as a contributor to the pathogenesis of COVID-19 due to its role in the generation of reactive oxygen species, but possibly more important due to induction of nonapoptotic cell death ferroptosis (79,156) . The process of ferroptosis is characterized by the iron-dependent accumulation of lethal lipid reactive oxygen species that promotes inflammation, but can be inhibited by iron chelators and lipophilic antioxidants such as tocopherols and carotenoids (79,157) .…”

Section: Ironmentioning

confidence: 99%

Vitamins, microelements and the immune system: current standpoint in the fight against coronavirus disease 2019

et al. 2022

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Coronavirus disease 2019 (COVID-19) is an acute respiratory disease associated with severe systemic inflammation. The optimal status of vitamins and microelements is considered crucial for the proper functioning of the immune system and necessary for successful recovery. Most patients with respiratory distress in COVID-19 are vitamin and microelement deficient, with vitamin D and selenium deficiency being the most common. Anyway, various micronutrient supplements are widely and arbitrarily used for prevention or in the treatment of COVID-19. We aimed to summarize current knowledge about molecular and physiological mechanisms of vitamins (D, A, C, B6, B9, B12) and microelements (selenium, zinc, copper, iron) involved in the immune system regulation in consideration with COVID-19 pathogenesis, as well as recent findings related to their usage and effects in the prevention and treatment of COVID-19. In the early course of the pandemic, several, mainly observational, studies reported an association of some micronutrients, such as vitamin C, D, and zinc, with severity reduction and survival improvement. Still, emerging randomized controlled trials showed no effect of vitamin D on hospitalization length and no effect of vitamin C and zinc on symptom reduction. Up to date, there is evidence neither for nor against the use of micronutrients in the treatment of COVID-19. The doses that exceed the recommended for the general population and age group should not be used, except in clinical trials. Benefits of supplementation are primarily expected in populations prone to micronutrient deficiencies, who are, as well, at a higher risk of worse outcomes in COVID-19.

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2021

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Drug-induced hepatotoxicity: case reportA 51-year-old man developed drug-induced hepatotoxicity following treatment with anakinra for haemophagocytic lymphohistiocytosis (HLH) and off-label amoxicillin/clavulanic acid and piperacillin/tazobactam for COVID-19.The man presented with worsening shortness of breath, pyrexia and persistent dry cough. His past medical history was remarkable for an episode of community acquired pneumonia. Upon examination, he was noted to have mild jaundice with nontender hepatomegaly. Based on further investigational findings, COVID-19 was strongly suspected. He was hospitalised. Swabs taken on day 1 and day 3 of admission were found to be negative by RT-PCR for SARS-CoV-2 and were considered as false negative. On admission day 1, he was treated with oral amoxicillin/clavulanic acid [amoxicillin-clavulanic acid] 625mg for one day, followed by IV piperacillin/tazobactam [piperacillin-tazobactam] 4.5g three times a day scheduled to be administered for 5 days, as off-label therapy for COVID-19. On day 2 of admission, HLH was suspected. Therefore, he started receiving anakinra 100mg once a day scheduled to be administered for six days [route not stated]. He also received methylprednisolone and prednisolone. On day 5 of admission, his liver function test findings started to deteriorate. Liver function test revealed bilirubin 346 µmol/L, ALT 161 U/L, GGT 624 U/L and ALP 256 U/L. At that point, he had completed 5 days of antibiotic therapy and 3 days of anakinra therapy. Drug-induced hepatotoxicity secondary to anakinra, amoxicillin/clavulanic acid and piperacillin/tazobactam was suspected. Clinically, biochemically and radiologically no features of chronic liver disease portal hypertension were observed. Ultrasound revealed an enlarged fatty liver with normal ducts and splenomegaly of 20cm. A further third combined nose and throat swab taken on day 10 of admission was positive for SARS-CoV-2, confirming COVID-19. On day 13, MRCP revealed hepatic haemosiderosis. Significant interval reduction in lymphadenopathy was noted. On day 14, he experienced progressive respiratory deterioration and became increasingly hypoxic. He was trialled with continuous positive airway pressure with no improvement. He became progressively encephalopathic and died on day 17 of admission. Approximately three weeks after his death, results of genetic testing were obtained that showed a homozygous C282Y mutation of the Human Homeostatic Iron Regulator (HFE) gene. He was diagnosed with hereditary haemochromatosis (HH). A post-mortem was performed. The liver showed extensive deposition of haemosiderin in hepatocytes consistent with HH and fatty changes consistent with a history of alcohol excess [outcome not stated].

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Hereditary haemochromatosis, haemophagocytic lymphohistiocytosis and COVID-19

Cited by 8 publications

References 21 publications

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

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

Vitamins, microelements and the immune system: current standpoint in the fight against coronavirus disease 2019

Antibacterials

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