<unk>  may share several clinical characteristics with the well-characterized familial hypercholesterolemia (FH), such as the development of tendon xanthomas in the first 10 years of life and the development of premature atherosclerosis. However, in contrast to FH patients,<unk>  patients usually have normal to moderately elevated total sterol levels and very high levels of plant sterols (sitosterol, campesterol, stigmasterol, avenosterol) and 5α-saturated stanols in their plasma. Plasma sitosterol levels in<unk>  patients are 10–25 times higher than in normal individuals (8–60 mg/dl). Not all patients with<unk>  have tendon xanthomas, thus absence of this should not be used to exclude this diagnosis. Xanthomas may appear at any age, even in childhood. These may be present as subcutaneous xanthomas on the buttocks in children or in usual locations (e.g., Achilles tendon, extensor tendons of the hand) in children and adults. Xanthelasma and corneal arcus are less common. Decreased range of motion with possible redness, swelling, and warmth of joints due to arthritis may be present. In addition,<unk>  patients may develop hemolytic episodes and splenomegaly. Untreated, the condition causes a significant increase in morbidity and mortality. Coronary heart disease and its inherent health consequences are the primary causes of illness and premature death in untreated patients. A patient named Amanda Beatriz L. Andrade, living in Brazil, was diagnosed at the age of 25 with<unk> , after having undergone coronary artery bypass surgery with five bypass grafts, according to the severity and due to the disease. She had already had a heart attack, but there were symptoms of pain since her early teens, which made it difficult to see the symptom of the heart attack, believing that the pains were common. The same left recorded on some platforms the difficulty in diagnosis in the face of cardiovascular symptoms uncommon at her age, causing doctors to believe other diagnoses, such as psychological problems or stress, making it difficult to request important and decisive tests. Translated with www.DeepL.com/Translator (free version) This condition is suspected to result in liver dysfunction and cirrhosis, in the context of<unk> , is reported
Sitosterolemia
Dehydration
Hypoaldosteronism
Pseudohypoaldosteronism
Stress hyperglycemia
Acromegaly
Isotonic hyponatremia
Apparent mineralocorticoid excess syndrome