Author Archives: Jose Marques Lopes PhD

A new technique that analyzes a group of genes associated with acute hepatic porphyrias (AHPs) is more sensitive and requires less DNA samples, a process that may speed diagnosis, according to a recent study. The research, “A next-generation-sequencing panel for mutational analysis of dominant acute hepatic…

People with acute hepatic porphyria (AHP), with moderate to severe symptoms, have a deficiency in mitochondrial function — meaning that their cells’ “power plants” don’t work properly,  according to a pilot study. The study titled, “Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias,” appeared…

Researchers described the case of a Japanese patient with familial porphyria cutanea tarda (PCT) carrying a previously unreported mutation in the UROD gene. The case report, “The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation,” appeared in the Journal…

Differential responses to blood vessel contraction and widening may underlie hypertension in patients experiencing acute intermittent porphyria (AIP) attacks, according to a mouse study. In addition, the differences found between male and female mice in the study may help explain the greater incidence of AIP attacks in women. The study,…

A genetic study found 19 new mutations in the…

Three patients with multiple fat deposits in the liver caused by alcohol abuse were diagnosed with chronic hepatic porphyria (CHP), a case report describes. In all three cases, a highly sensitive imaging technique called contrast-enhanced ultrasound (CEUS) was useful in confirming a diagnosis. The report, “Multinodular…

Patients with abdominal pain, seizures and brain imaging indication of posterior reversible encephalopathy syndrome (PRES) could have acute intermittent porphyria (AIP), according to two new case reports and a literature review. The study, “Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: Two case reports and…

Although progress has been made, more research is needed to develop effective therapeutic options for cutaneous porphyria, researchers said in a recent editorial, highlighting the latest advancements in the understanding of the disease, as well as possible pharmacological and non-pharmacological treatments. The editorial, “Shedding light on…

A new case report illustrates common misdiagnosis given, and lack of awareness among clinicians, that may cause severe complications to patients with acute intermittent porphyria (AIP). The study, “Many pitfalls in diagnosis of acute intermittent porphyria: a case report,” appeared in the journal BMC Research…

Patients with acute intermittent porphyria (AIP) have reduced quality of life, particularly physical health, a study has concluded. However, the authors also recommend focusing more attention on patients’ mental health. The study titled, “Acute Intermittent Porphyria in the North of China: The Acute Attack Effect on Quality of…