Diagnosis & Disease Information

liver transplant

Liver From SARS-CoV-2 RNA-Positive Donor Successfully Transplanted in Child With ALGS

A pediatric patient with Alagille syndrome (ALGS) underwent a successful liver transplantation from a deceased asymptomatic severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) RNA-positive pediatric donor without evidence of viral transmission. In addition to this patient, 6 other patients with different diagnoses received organs from the same donor or a second pediatric donor who also…

Gene mutation illustration

Report Demonstrates Inheritance of His90Asp Variant Among People With hATTR

Three family members diagnosed with hereditary transthyretin amyloidosis (hATTR) have been identified as carriers of an autosomal dominant His90Asp variant, according to a study recently published in the Canadian Journal of Neurological Sciences. The study authors reported on a woman aged 74 years who presented with early satiety, postural hypotension, episodes of intractable vomiting, fluctuating…

COVID19

Case Report: Liver Transplantation in a Pediatric Patient With ALGS and COVID-19

Liver transplantation was successfully performed in a pediatric patient with Alagille syndrome (ALGS) and a concomitant severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, according to a case report recently published in Hepatology Research. The patient, a 3-year-old girl with liver cirrhosis, was admitted to a hospital for deceased-donor liver transplantation. As the patient’s liver…

Cardiomyopathy

Hereditary ATTR-CM Has a Poorer Prognosis Than the Wild-Type Form

Around one-fifth of elderly patients with transthyretin amyloidosis cardiomyopathy (ATTR-CM) have a pathogenic TTR variant, according to a study published in the European Journal of Heart Failure. ATTR-CM has gained increasing recognition in recent years, aided by advances in imaging studies, such as cardiac magnetic resonance and scintigraphy with bone tracers. This has coincided with…

eye exam

Patients With hATTR Exhibit Severe Ocular Involvement

Patients with hereditary transthyretin amyloidosis (hATTR) often have ocular manifestations that may be associated with devastating consequences to best-corrected visual acuity (BCVA) and quality of life, according to the results of a cross-sectional, noninterventional study conducted in Spain and published in Retina. The researchers sought to determine ophthalmologic involvement in patients with hATTR and its…

Calculator and stethoscope

Researchers Develop Health State Vignettes for Alagille Syndrome

Researchers reported that patients with Alagille syndrome and their caregivers have a wide range of concerns regarding the disease and its treatment and that health state vignettes may be useful in estimating the cost-effectiveness of future treatments. The study was published in Value in Health. Alagille syndrome is a rare cholestatic liver disorder that imposes…

human kidneys

Gene Silencing Therapies Might Be Safe for Renal Function in hATTR

Gene silencing therapies might be safe for renal function and were not associated with estimated glomerular filtration rate (eGFR) worsening in hereditary transthyretin amyloidosis (hATTR), according to a new study conducted by researchers from Italy. Before treatment initiation, the average change in eGFR was 0.01 mL/min/1.73 m2 per month (95% CI, -0.38-0.41) for a cohort…

serum vials

New Study Reveals Possible Metabolic Biomarkers of hATTR

A recent study published in the International Journal of Molecular Sciences found reduced serum levels of palmitic acid in people with hereditary transthyretin amyloidosis (hATTR). The study authors speculate that the altered fatty acid might serve as a viable early biomarker of the condition. For the purpose of this observational case-control study, the researchers collected…

surgeon tools

Domino Liver Transplantation From Val30Met hATTR Donors Appears Safe

Domino liver transplantation (DLT) from donors with hereditary transthyretin amyloidosis (hATTR) harboring the Val30Met mutation seems to be safe, despite frequent observations of cardiac abnormalities. “Recipients of DLT have significant cardiomyopathy mostly attributable to their age, comorbidities, and immunosuppressive regimen, because we could not demonstrate cardiac amyloid deposition in recipients from Val30Met donors by bone…

Next post in hATTR News Briefs