Intermittent Myalgia Research Articles

Chest Pain, Statins, Troponin Elevation, and Myopathy: A Diagnostic and Management Dilemma

A 64-year-old man with known ischemic heart disease and previous myocardial infarction and stent implantation presented to the Emergency Department with bilateral arm pain and chest discomfort with mixed features. He described a dull, central sensation within the chest, which did not radiate to the neck, jaw, or back. Additionally, he had a 3-week history of fatigue and intermittent myalgias, predominantly affecting the shoulders on exertion. Cardiac risk factors included hypertension and hypercholesterolemia.

Perturbação do comportamento alimentar - Um diagnóstico de exclusão

In adolescents with weight loss, diagnoses other than eating disorders should be considered, namely neurological diseases. A 16-year-old girl with an intellectual development disorder was referred to the Adolescent Medicine outpatient clinic from Child Psychiatry with a diagnosis of eating disorder and persistent anemia. Her body mass index was consistently below the fifth percentile and long-lasting eating difficulties were reported since the age of 15. The girl had no other gastrointestinal, articular, or respiratory complaints, neither polyuria, polydipsia, or recurrent fever. Parental divorce and domestic violence were reported. The patient complained of excessive daytime sleepiness, asthenia, intermittent myalgia, and muscular weakness episodes. Phenotypic characteristics and personal medical history led to clinical suspicion of a neuromuscular disease and genetic study confirmed myotonic dystrophy type 1. This case highlights the importance of considering other diagnoses besides eating disorders in adolescents with eating problems. An exhaustive evaluation of personal and family medical history, patient complaints, and detailed physical examination is mandatory.

Efficacy and safety of rosuvastatin therapy in children and adolescents with familial hypercholesterolemia: Results from the CHARON study

Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant disorder leading to premature atherosclerosis. Guidelines recommend initiating statins early to reduce low-density lipoprotein cholesterol (LDL-C). Studies have evaluated rosuvastatin in children aged ≥10 years, but its efficacy and safety in younger children is unknown. Children with HeFH and fasting LDL-C >4.92 mmol/L (190 mg/dL) or >4.10 mmol/L (>158 mg/dL) with other cardiovascular risk factors received rosuvastatin 5 mg daily. Based on LDL-C targets (<2.85 mmol/L [<110 mg/dL]), rosuvastatin could be uptitrated to 10 mg (aged 6-9 years) or 20 mg (aged 10-17 years). Treatment lasted 2 years. Changes in lipid values, growth, sexual maturation, and adverse events (AEs) were assessed. The intention-to-treat analysis included 197 patients. At 24 months, LDL-C was reduced by 43, 45, and 35% vs baseline in patients aged 6-9, 10-13, and 14-17 years, respectively (P < .001 for all groups). Most AEs were mild. Intermittent myalgia was reported in 11 (6%) patients and did not lead to discontinuation of rosuvastatin treatment. Serious AEs were reported by 9 (5%) patients, all considered unrelated to treatment by the investigators. No clinically important changes in hepatic biochemistry were reported. Rosuvastatin treatment did not appear to adversely affect height, weight, or sexual maturation. In HeFH patients aged 6-17 years, rosuvastatin 5-20 mg over 2 years significantly reduced LDL-C compared with baseline. Treatment was well tolerated, with no adverse effects on growth or sexual maturation.

An 80-Year-Old Woman With Left-Sided Headache and Diplopia

An 80-year-old white woman with a history of hyperthyroidism treated with radioactive iodine ablation, gastroesophageal reflux disease complicated by Barrett esophagus, osteoarthritis, breast cancer status post-bilateral mastectomy, and diverticulosis presented with severe left-sided headache and diplopia. Three weeks prior to presentation, she developed a sharp pain located over the left temporal, parietal, and occipital regions. It was associated with exquisite scalp tenderness. Over the next few days, the pain progressed, involving the left side of the face, including the periorbital region. There was no radiation of the pain, and she had little relief with over-the-counter acetaminophen. She also experienced earache, sore throat, and left jaw pain with mastication. The patient saw a dentist for these symptoms, and she was diagnosed with temporomandibular joint disorder. She was prescribed a mouth guard; however, despite its use, her symptoms progressed to a point where she was unable to open her mouth at times, and her jaw felt swollen. Diplopia started 4 days prior to presentation. She experienced this intermittently for 24 hours before it became constant. She saw an ophthalmologist who diagnosed her with a right eye abduction deficit presumed to be a cranial nerve 6 (CN6) palsy. The patient then went to the emergency department for further evaluation. Review of systems was notable for fatigue, recent 10-pound weight loss, and intermittent myalgias, but there were no fevers, chills, dizziness, dysphagia, dysarthria, weakness, or numbness. Family history included coronary artery disease, diabetes, and various cancers. She was a 40-pack-year smoker, but quit 12 years ago. Her general physical examination was only notable for a blood pressure of 164/77 mm Hg. Neurological examination was notable for the inability to fully abduct the right eye. Fundoscopic examination was negative for papilledema. Strength was 5/5 throughout with normal tone. Serum laboratory analysis showed mild leukocytosis (12 200/mm3), normocytic anemia (hematocrit of 32.9% and mean corpuscular volume of 80.6 fL compared to hematocrit 40.2% 2 months prior), and thrombocytosis (675 000/mm3). Erythrocyte sedimentation rate (ESR) was 76 mm/h (reference range 0-30) and C-reactive protein (CRP) was 73.65 mg/L (reference range 0.30-8.00). A lumbar puncture (LP) was performed with a normal opening pressure of 15 cm H2O. The white blood cell count was 1 in tube 1 and 2 in tube 4. The red blood cell count was 9 in tube 1 and 1 in tube 4. The glucose was slightly elevated at 79 mg/dL (reference range 40-70), and the protein was normal at 41 mg/dL. The viral and bacterial studies of the cerebrospinal fluid (CSF) were unremarkable. Magnetic resonance imaging (MRI) of the brain and orbits with and without contrast was unremarkable except for moderate supratentorial white matter changes. Magnetic resonance angiogram of the head and neck with and without contrast was normal.

A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence

Mitochondrial trifunctional protein (MTP) is a multienzyme complex involved in the metabolism of long-chain hydroxyacyl-CoA, a product of the fatty acid β-oxidation cycle. MTP is an α4β4 hetero-octomer encoded by two different genes: HADHA (OMIM 600890) and HADHB (OMIM 143450). MTP deficiency induces three different types of presentation: (1) a lethal phenotype with neonatal onset (severe); (2) a hepatic phenotype with infant onset (intermediate); and (3) a neuromyopathic phenotype with late-adolescent onset (mild). While acylcarnitine analysis has revealed increased levels of long-chain hydroxyacylcarnitine in blood when an MTP deficiency exists, the neuromyopathic type is usually asymptomatic and does not always result in an abnormality in acylcarnitine analysis results. We report here the case of a 13-year-old girl with recurrences of intermittent myalgia since her early childhood, for whom the disorder had not been definitely diagnosed. Since she was referred to our hospital because of rhabdomyolysis, we have repeatedly performed blood acylcarnitine analysis and found slight increases in long-chain 3-OH-acylcarnitine levels, on the basis of which we made a chemical diagnosis of MTP deficiency. Immunoblot analysis of skin fibroblasts revealed loss of α- and β-subunits of MTP. In addition, analysis of the HADHB gene, which encodes long-chain 3-ketoacyl-CoA thiolase, one of the enzymes constituting MTP, identified compound heterozygous mutations of c.520C>T (p.R141C) and c.1331G>A (p.R411K).MTP deficiency is considered an extremely rare disorder, as only five cases (lethal phenotype, two patients; hepatic phenotype, two patients; and neuromyopathic phenotype, one patient) have thus far been reported in Japan. However, it is likely that the neuromyopathic phenotype of MTP deficiency has not yet been diagnosed among patients with recurrences of intermittent myalgia and rhabdomyolysis, as in our patient reported here.