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VEXAS Syndrome

Overview VEXAS syndrome is a late-onset, adult autoinflammatory disease caused by acquired somatic mutations in the UBA1 gene, leading to dysregulated innate immunity, systemic inflammation, and overlapping haematologic and rheumatologic manifestations.  VEXAS stands for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic. It predominantly affects older males due to its X-linked nature and typically presents with refractory…

Addison's Disease

Overview Addison's disease is a disease characterised by adrenal insufficiency. Adrenal insufficiency results in a decrease of the adrenal gland hormones: mineralocorticoids, glucocorticoids and to an extent androgens. There are many causes of addison's disease. The most common cause in the developed world is autoimmune (approximately 70% cases). Signs and symptoms of adrenal sufficiency don't…

Antiphospholipid Syndrome (APS)

Overview Antiphospholipid Syndrome (APS) is an acquired autoimmune thrombophilia characterized by recurrent venous or arterial thromboses and/or pregnancy morbidity in the presence of persistent antiphospholipid antibodies (aPL). APS may occur as a primary condition or secondary to systemic lupus erythematosus (SLE). Prevalence of aPL in the general population is ~2%, but true APS is rare…

Osgood Schlatter

Overview In this common disorder of adolescence the tibial tubercle becomes painful and ‘swollen’. Although often called osteochondritis and apophysitis, it is nothing more than a traction injury of the apophysis into which part of the patellar tendon is attached. Osgood-Schaltter disease typically occurs during the early adolescent growth spurt between 10-15 years of age,…

X-linked Agammaglobulinaemia (XLA / Bruton’s Disease)

Overview X-linked agammaglobulinaemia (XLA) is a rare primary immunodeficiency caused by mutations in the Bruton’s tyrosine kinase (BTK) gene , leading to failure of B-cell maturation. It results in profound hypogammaglobulinaemia and susceptibility to recurrent bacterial infections, particularly with encapsulated organisms. It usually presents after 6 months of age (once maternal IgG wanes). Prevalence is…

Obstructive Sleep Apnoea

Overview Sleep apnea syndrome is an extremely common medical disorder associated with important morbidity. Sleep Apnea and can be classified as: Obstructive Sleep Apnea – is the most common, characterized by repetitive, intermittent collapse of the upper (pharyngeal) airway during sleep, which causes apnoeic episodes terminated by partial arousal Central Sleep Apnea - characterised by repetitive absent or diminished…

Menopause

Overview The menopause means the final menstrual period – diagnosed retrospectively after one year of amenorrhoea. Cessation occurs due to loss of ovarian function. The “declining oocyte pool” theory states that a newborn girl is born with millions of eggs, most of which die by atresia. The average age of menopause is 50, however this can vary…

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