ABSTRACT
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification. The most prevalent group of IEMs was amino acid disorders, with 108 (21.6%) patients diagnosed with phenylketonuria. Lysosomal storage disorders were the second group, in which 32 (6.4%) and 25 (5%) patients had Fabry disease and Gaucher disease respectively. The great clinical heterogeneity, the significant delay in diagnosis after symptom onset, the existence of some degree of physical dependence in a great number of patients, the need for a multidisciplinary and coordinated approach, and the lack of specific drug treatment are common features in this group of conditions.
ABSTRACT
BACKGROUND AND OBJECTIVE: Statin-associated autoimmune myopathy (SAAM) with anti-HMGCR antibodies has recently been described. Several specific immunoassays are in use to detect HMGCR antibodies. In the course of systematic autoantibody screening we recognized a new distinct IFL staining pattern on rat liver sections that regularly coincided with anti-HMGCR antibodies. In this study we investigated whether this new IFL pattern is specifically associated to statin-associated autoimmune myopathy and corresponds to anti-HMGCR antibodies. PATIENTS AND METHODS: Twenty-three patients positive for anti-HMGCR antibodies (14 diagnosed with SAAM) were investigated for anti-HMGCR antibodies by two ELISA assays and confirmed by immmunoblot. HMGCR associated liver IFL pattern (HALIP) was detected by indirect IFL and the reactivity against HMGCR was confirmed by immunoabsorption using purified human HMGCR antigen. 90 patients with other autoimmune diseases and 45 non-autoimmune statin treated patients were studied as controls. RESULTS: 21 out of 23 (91%) anti-HMGCR positive patients were HALIP positive. The staining was completely and specifically removed by immunoabsorption with human purified HMGCR. None of the control sera from autoimmune patients or non-autoimmune statin treated subjects was positive for HALIP. Statistical concordance between HALIP and anti-HMGCR antibody specific tests was 98.7%, kappa 0.95. CONCLUSIONS: A new and distinct IFL staining pattern (HALIP) is associated to HMGCR associated myopathy. Absorption and concordance studies indicate that the antigen recognized in the liver by HALIP is HMGCR or a closely related protein. Awareness of this new pattern can help to detect HMGCR autoantibodies in statin treated patients tested for autoimmune serology.
Subject(s)
Autoantibodies/immunology , Autoimmune Diseases/etiology , Enzyme-Linked Immunosorbent Assay/methods , Hydroxymethylglutaryl CoA Reductases/immunology , Hydroxymethylglutaryl-CoA Reductase Inhibitors/adverse effects , Muscular Diseases/etiology , Autoimmune Diseases/immunology , Humans , Middle AgedSubject(s)
Familial Mediterranean Fever/diagnosis , Carrier Proteins/genetics , Colchicine/therapeutic use , Cryopyrin-Associated Periodic Syndromes/diagnosis , Cryopyrin-Associated Periodic Syndromes/genetics , Diagnosis, Differential , Familial Mediterranean Fever/drug therapy , Humans , Interleukin 1 Receptor Antagonist Protein/therapeutic use , Male , Middle Aged , NLR Family, Pyrin Domain-Containing 3 Protein , Polyradiculoneuropathy/etiology , Prednisone/therapeutic useABSTRACT
No disponible
Subject(s)
Humans , Patient Readmission/statistics & numerical data , Chronic Disease/epidemiology , Risk Factors , Impacts of Polution on HealthSubject(s)
Patient Readmission/statistics & numerical data , Age Distribution , Aged , Aged, 80 and over , Comorbidity , Diagnosis-Related Groups , Female , Frail Elderly , Hospital Departments/statistics & numerical data , Hospitals, Urban/statistics & numerical data , Humans , Internal Medicine , Male , Models, Theoretical , Quality Indicators, Health Care , Sex Distribution , SpainABSTRACT
La intoxicación por metanol puede causar alteraciones del equilibrio ácido-base, trastornos Oculares y disfunción neurológica que pueden llevar a la muerte o a generar secuelas graves. El tratamiento específico consiste en la aplicación de antídotos que impidan que la enzima alcohol deshidrogenasa (ADH) metabolice el metanol; tradicionalmente se ha utilizado el alcohol etílico para este objetivo, pero recientemente se ha introducido el fomepizol, un fármaco capaz de inhibir la ADH. Se presenta el primer paciente tratado en España con este fármaco. Se trata de un hombre de 59 años con antecedentes de alcoholismo crónico, que ingresó en el Servicio de Urgencias por una alteración del estado de conciencia, y en el que se detectó una severa acidosis metabólica, manifestando en el interrogatorio la ingesta en las horas previas de unos 50 mL de "alcohol de quemar". La concentración de metanol en suero fue de 0,24 g/l. Se inició tratamiento con bicarbonato sódico y fomepizol a una dosis de 1-5-mg/kg, con buena tolerancia y sin reaparición de ia acidosis. Se objetivó una disminución de la agudeza visual, aunque en el fondo de ojo inicial sólo se apreció una pequeña hemorragia en astilla parapapilar derecha compatible con una neuropatía de carácter tóxico, y que ha sido su única secuela (AU)
No disponible
Subject(s)
Male , Middle Aged , Humans , Methanol/poisoning , Alcoholic Intoxication/drug therapy , Antidotes/administration & dosage , Alcohol Dehydrogenase/antagonists & inhibitorsABSTRACT
Inclusion body myositis (IBM) is a myopathy classified until now within the group of idiopathic inflammatory myopathies (IIM). Nevertheless, its clinical and histological features are specific and different from the other IIM. It is refractory to corticosteroid therapy. Recently, a few cases of IBM with familial transmission have been described, which is the first report in our country; previous reported cases in literature are reviewed. The similarities of some forms of IBM with muscle dystrophies, rather than with inflammatory myopathies are discussed.
Subject(s)
Inclusion Bodies/pathology , Myositis/pathology , Adolescent , Biopsy , Child , Female , Humans , Male , Middle Aged , Muscles/pathology , Muscular Atrophy/genetics , Muscular Atrophy/pathology , Myositis/geneticsABSTRACT
A forty-six year old man with chronic renal failure and a toxic chronic liver disease developed progressive muscle weakness after a long trial with colchicine. Physical exam revealed muscle weakness and proximal muscle atrophy with hyporeflexia. Serum levels of creatine kinase were high and signs of myopathy and axonal and demyelinating polyneuropathy was evidenced in electrophysiological studies. Muscle biopsy disclosed a vacuolar myopathy, disruption of myofibers and dilatation of sarcoplasmic reticulum. The clinical pictures was attributed to a toxic myopathy and polyneuropathy due to colchicine, thus this treatment was discontinued. Four week later, the patient was symptom free, the levels of seric creatine kinase were normal and a new muscle biopsy was normal, with disappearance of previous histological findings.
Subject(s)
Colchicine/adverse effects , Muscular Diseases/chemically induced , Nervous System Diseases/chemically induced , Humans , Male , Middle Aged , Muscular Diseases/pathologyABSTRACT
A case of palsy without family history associated to hyperthyroidism, is described. This is an rare entity in our environment (only two cases have been previously described) and may develop with hypo, normo or hyperkalemia. Its potential pathogenicity is discussed, which finally results in a disorder of the ionic interchange at the level of the muscle membrane. The need to identify these secondary forms of recurrent palsy is stressed, given that it may benefit from an adequate treatment. In the case presented here, the normalization of the thyroid function was followed by the sustained elimination of the muscle symptomatology.
Subject(s)
Paralysis/physiopathology , Adult , Humans , Hypokalemia/complications , Male , Paralysis/complications , Thyrotoxicosis/complicationsABSTRACT
The authors report two male patients with inclusion body myositis (IBM) and review the features of this condition in the literature. This is an uncommon type of idiopathic myositis which involves males more often than females; it usually develops in elderly patients; its course is very slow; it is usually associated with distal weakness; neurophysiological studies show a mixed "myogenic" and "neurogenic" pattern; and it is usually unresponsive to corticosteroids. The diagnosis is basically made on the basis of the histological features, mainly consisting of vacuoles surrounded by a basophilic haze in histochemical stains of frozen tissue and, particularly, by the presence of characteristic microfilaments in ultrastructural studies.
Subject(s)
Inclusion Bodies/pathology , Myositis/pathology , Humans , Male , Middle Aged , Myositis/diagnosis , Myositis/genetics , PedigreeABSTRACT
Characteristic features of 9 patients (5 male, 4 female) affected by Still's disease of adult (SDA) were analysed. All of them had fever and in 7 cases it was associated to arthritis and cutaneous rash. The most frequently affected joints were knees, ankles, and carpus. The sedimentation rate was increased in all patients and 6 of them had associated leucocytosis. 5 patients had mild inflammation synovial fluid. The histological changes found were: cutaneous perivascular inflammation, reactive lymph node enlargement, sinusoid dilatation and hepatic periportal inflammation. The NSA were active in 4 patients but 5 needed steroids to control the systemic clinical alterations. 3 patients relapsed and one was diagnosed as having sarcoidosis 3 years later, the possible association not having being described. We concluded that suspicion is the most important factor for an early diagnosis.
