Updated Diagnostic Criteria for Tuberous Sclerosis Complex (TSC)

Tuberous sclerosis complex (TSC) is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Continue reading

Diagnostic Criteria for Sarcopenia

Sarcopenia is a progressive and generalised skeletal muscle disorder that is associated with increased likelihood of adverse outcomes including falls, fractures, physical disability and mortality. Continue reading

Diagnostic Criteria for Vasospastic Angina (VSA)

Vasospastic angina (VSA) is a variant form of angina pectoris, in which angina occurs at rest, with transient electrocardiogram modifications and preserved exercise capacity. VSA can be involved in many clinical scenarios, such as stable angina, sudden cardiac death, acute coronary syndrome, arrhythmia or syncope. Continue reading

ASAS Categorization Criteria for Spondyloarthritis

Assessment in SpondyloArthritis international Society (ASAS) criteria were validated in an international cohort trial with a sensibility and specificity close to 82.9 and 84.4%, respectively. Continue reading

Diagnostic Criteria for Primary Raynaud’s Phenomenon (RP)

Raynaud’s phenomenon (RP), is a disorder of the microvasculature that generally affects the fingers and toes but can present on other extremities such as the nose, ears and nipples. Continue reading

Criteria for the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy that predominantly affects the right ventricle. With a prevalence in the range of 1:5000 to 1:2000 persons, ARVC is one of the leading causes of sudden cardiac death in young people and in athletes. Continue reading

IWOS Criteria for the Diagnosis of Ocular Sarcoidosis (OS)

Sarcoidosis is a systemic inflammatory disorder with unknown aetiology, affecting many organs including the eye and characterised by non-caseating granulomas. Continue reading

Diagnostic Criteria for Behavioural Variant Frontotemporal Dementia

Frontotemporal dementia (FTD) is a neurodegenerative disorder mainly affecting the frontal and/or temporal lobes, leading to dementia with prominent behavioural and/or language disturbances. Symptom onset is most often between 45 and 65 years. Continue reading

Diagnostic Criteria for Chronic Rhinosinusitis with Nasal Polyps

Nasal polyps are benign inflammatory masses, arising from the mucosa of the nose and paranasal sinuses. They are considered to be a subgroup of chronic rhinosinusitis, and clinical diagnosis is made on the basis of the presence of sinonasal symptoms for more than 3 months and the visualization of polyps in the nasal cavity. Continue reading

Criteria to Initiate Evaluation for Growth Hormone Deficiency (GHD)

Tools for the diagnosis of GHD include auxology, radiographic assessment of bone age, measurement of insulin-like growth factor 1 (IGF-I) and IGF binding protein 3 (IGFBP-3), provocative growth hormone (GH) testing, cranial magnetic resonance imaging (MRI), and, in certain cases, genetic testing. Growth velocity and the degree of short stature are primary considerations in the decision to pursue evaluation for GHD. Continue reading