Givosiran: a targeted treatment for acute intermittent porphyria.

The acute hepatic porphyrias (AHPs) are a family of rare genetic diseases associated with attacks of abdominal pain, vomiting, weakness, neuropathy, and other neurovisceral symptoms. Pathogenic variants in 1 of 4 enzymes of heme synthesis are necessary for the development of AHP, and the onset of acute attacks also requires the induction of δ-aminolevulinic acid synthase 1 (ALAS1), the first and rate-limiting step of heme synthesis in the liver. Givosiran is an RNA interference medication that inhibits hepatic ALAS1 and was designed to treat AHP.

German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran.

: Acute intermittent porphyria (AIP) is a metabolic disease characterised by neurovisceral crises with episodes of acute abdominal pain alongside life-altering, and often hidden, chronic symptoms. The elimination of precipitating factors, hemin therapy, and pain relief are strategies used to treat porphyria symptoms, but are often reserved for patients suffering recurrent, acute attacks. Givosiran (siRNA) is an emerging AIP therapy capable of silencing delta-aminolevulinic acid synthase-1 (ALAS1) and, in turn, reducing the accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) that precede porphyria symptoms.

Worsening abdominal pain leading to false laparotomy: A case of acute intermittent porphyria.

Acute intermittent porphyria (AIP), one of the most severe types of acute hepatic porphyria, is an autosomal dominant inherited disorder of heme biosynthesis. We present a case of a 16-year-old girl who presented with severe abdominal pain, subjected to a laparotomy and later developed seizures and other neurological manifestations. Initial investigations showed hyponatraemia.

Effects of internet-based health education on patients with acute intermittent porphyria.

Background: Acute intermittent porphyria (AIP) is a rare genetic metabolic disorder characterized by acute attacks of neurovisceral symptoms. This disease not only poses a threat to patients' physical and mental well-being, but its frequent acute attacks also have a profound impact on patients' mental state and overall quality of life (QoL).

Objective: This study aimed to explore the impact of internet-based health education on the acute attacks, mental health, and QoL of patients with AIP.

Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long-term management of patients.

Acute intermittent porphyria is an inherited error of heme synthesis. The underlying pathophysiology, involving mainly hepatic heme synthesis, is poorly understood despite its occurrence, and the severity of acute porphyria attack is still difficult to control. A better understanding of the interactions between heme synthesis and global metabolism would improve the management of AIP patients.

Palliative Care Aspects of Acute Intermittent Porphyria - A Case Report.

Acute intermitttent porphyria belongs to a rare group of diseases hallmarked by deficient biosynthesis of heme. It carries a significant symptom burden, both physical and emotional,and therefore palliative care has emerged as an essential tool in the armamentarium of porphyria management . It takes care of the patient as a whole and caters to all aspects that the disease process demands.

Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates.

Objective: Acute intermittent porphyria (AIP) is a rare metabolic disorder caused by haploinsufficiency of hepatic porphobilinogen deaminase (PBGD), the third enzyme of the heme biosynthesis. Individuals with AIP experience neurovisceral attacks closely associated with hepatic overproduction of potentially neurotoxic heme precursors.

Design: We replicated AIP in non-human primates (NHPs) through selective knockdown of the hepatic gene and evaluated the safety and therapeutic efficacy of human PBGD (hPBGD) mRNA rescue.

Unraveling Complexity: Acute Intermittent Porphyria Complicated by Rhabdomyolysis and Acute Pancreatitis.

Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder characterized by defective porphyrin metabolism in the blood. It manifests through variable clinical features, among these are abdominal pain, nausea, vomiting, peripheral neuropathy, and seizure. The diverse presentation of AIP poses substantial diagnostic challenges due to its potential to mimic other medical conditions, delaying early recognition and intervention.

Acute intermittent porphyria: a disease with low penetrance and high heterogeneity.

Acute intermittent porphyria (AIP) is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS), a key enzyme in the heme biosynthesis pathway. AIP is an autosomal dominant disorder characterized by low penetrance and a highly heterogenous clinical presentation. The estimated prevalence of AIP is 5-10 cases per 100,000 persons, with acute attacks manifesting in less than 1% of the at-risk population.

Givosiran for the Treatment of Pediatric Acute Intermittent Porphyria.

Acute intermittent porphyria (AIP) causes neurovisceral symptoms and organ toxicity resulting in acute and chronic health conditions. Treatment has traditionally involved avoiding triggers and utilizing carbohydrates and hemin infusions for acute attacks. Givosiran, an FDA-approved small interfering RNA, has shown benefit in adults in reducing attacks.