RYR1-related rhabdomyolysis: a spectrum of hypermetabolic states due to ryanodine receptor dysfunction

Curr Pharm Des. 2021 Aug 3. doi: 10.2174/1381612827666210804095300. Online ahead of print.ABSTRACTVariants in the ryanodine receptor-1 gene (RYR1) have been associated with a wide range of neuromuscular conditions, including various congenital myopathies and malignant hyperthermia (MH). More recently, a number of RYR1 variants, mostly MH-associated, have been demonstrated to contribute to rhabdomyolysis events not directly related to anesthesia in otherwise healthy individuals. This review focuses on RYR1-related rhabdomyolysis, in the context of several clinical presentations (i.e., exertional rhabdomyolysis, exertional heat illnesses and MH), and conditions involving a similar hypermetabolic state, in which RYR1 variants may be present (i.e., neuroleptic malignant syndrome and serotonin syndrome). The variety of triggers that can evoke rhabdomyolysis, on their own or in combination, as well as the number of potentially associated complications, illustrates that this is a condition relevant to several medical disciplines. External triggers include but are not limited to strenuous physical exercise, especially if unaccustomed or performed under challenging environmental conditions (e.g., high ambient temperature or humidity), alcohol/illicit drugs, prescription medication (in particular statins, other anti-lipid agents, antipsychotics and antidepressants) infection, or heat. Amongst all patients presenting with rhabdomyolysis, a genetic susceptibility is present in a proporti...
Source: Current Pharmaceutical Design - Category: Drugs & Pharmacology Authors: Source Type: research

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Acta Biomed. 2021 Apr 30;92(S1):e2021089. doi: 10.23750/abm.v92iS1.8858.ABSTRACTThe term rhabdomyolysis describes a damage involving striated muscle cells or fibers, often complicated by acute kidney injury. This syndrome can have different causes, but it is generally divided into two main categories: traumatic and non-traumatic rhabdomyolysis. Among medical causes, drugs and abuse substances play a pivotal role, being opioids, alcohol, cocaine and other substances of abuse. Among drugs, the case of statins is certainly the best known. Here we describe a paradigmatic case of a man treated with success and good tolerance fo...
Source: Acta Bio-Medica : Atenei Parmensis - Category: General Medicine Authors: Source Type: research
ConclusionIn this study, DPP-4 inhibitor use was not associated with an increased risk of serious muscular injury among patients with type 2 diabetes mellitus using statins or fibrates.
Source: Drug Safety - Category: Drugs & Pharmacology Source Type: research
A 73-year-old gentleman presented with progressive weakness over the course of a few months, more prominent in the lower extremities. He denied myalgia, seizures, immobilization, fever, or viral-like illness. His comorbidities were significant for coronary artery disease, hypothyroidism, and hyperlipidemia. Medications included metoprolol, aspirin, thyroxine, and atorvastatin, which was started 4 years prior to presentation. Patient denied any alcohol consumption or illicit drug use.
Source: The American Journal of Medicine - Category: General Medicine Authors: Tags: Diagnostic Dilemma Source Type: research
Authors: Kumar NS, Basu S Abstract The classical bone scan findings of Rhabdomyolysis is presented in this illustration. A 60 year old female patient with complaints of low backache and bilateral lower limbs weakness over 1 year was referred for whole body skeletal status evaluation. Whole body skeletal scintigraphy undertaken 3 hrs after I.V injection of 15 mci of 99mTc-MDP revealed bilaterally symmetrical diffuse skeletal muscle tracer activity in deltoid, lattisimus dorsi, diaphragm, paraspinal muscles, gluteus muscles and muscles of thigh. On biochemical investigations for evaluation of skeletal muscle uptake r...
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research
Abstract Toxic myopathies are a group of pathologies characterized by a structural and/or functional disturbance of muscles induced by an exogenous agent. The most frequent are those induced by drugs used in clinical practice. Illegal drugs, pesticides, solvents, metals and even physical and gaseous agents can cause this kind of disease and exert toxicity on muscle tissues. Some toxins from animals, plants or micro-organisms are potent myotoxic agents, which can lead to fatal complications. Respiratory arrest and rhabdomyolysis are often referred to as the ultimate complications of these pathologies. Several mecha...
Source: Annales Pharmaceutiques Francaises - Category: Drugs & Pharmacology Authors: Tags: Ann Pharm Fr Source Type: research
CONCLUSION: Risk factors for rhabdomyolysis or related symptoms associated with taking statins were combination with ARB and increases in AST or total bilirubin levels.
. PMID: 29701171 [PubMed - as supplied by publisher]
Source: International Journal of Clinical Pharmacology and Therapeutics - Category: Drugs & Pharmacology Tags: Int J Clin Pharmacol Ther Source Type: research
CONCLUSIONS: Myalgia was the most common muscle adverse effect associated with statin therapy. Excessive alcohol consumption and pravastatin were independently associated with myositis or rhabdomyolysis. PMID: 27645494 [PubMed - as supplied by publisher]
Source: Expert Opinion on Drug Safety - Category: Drugs & Pharmacology Tags: Expert Opin Drug Saf Source Type: research
We describe a case of a patient with hypothyroidism who developed acute onset bilateral foot drop on initiation of statins. This case highlights the need for cautious use of statins in patients at risk for rhabdomyolysis.
Source: Annals of Indian Academy of Neurology - Category: Neurology Authors: Source Type: research
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