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Summary. Carcinoid syndrome commonly presents with flushing and diarrhoea. Other clinical features include wheeze, palpitations, telangiectasia, and abdominal pain. Symptoms develop due to secretion of serotonin, kinins, and other biogenic amines from functional secretory neuroendocrine tumours. Diagnosed by elevated levels of urinary 5 ...
Summary. Carcinoid syndrome commonly presents with flushing and diarrhea. Other clinical features include wheeze, palpitations, telangiectasia, and abdominal pain. Symptoms develop due to secretion of serotonin, kinins, and other biogenic amines from functional secretory neuroendocrine tumors. Diagnosed by elevated levels of urinary 5 ...
Carcinoid syndrome commonly presents with flushing and diarrhoea. Other clinical features include wheeze, palpitations, telangiectasia, and abdominal pain. Symptoms develop due to secretion of serotonin, kinins, and other biogenic amines from functional secretory neuroendocrine tumours.
Summary. Mast cell activation syndrome (MCAS) is a rare condition that is characterized by recurrent sudden-onset episodes of severe systemic symptoms associated with the release of mast cell mediators. In many cases the recurrent episodes present as anaphylaxis. Acute episodes of MCAS-associated anaphylaxis must be managed according to the ...
Summary. Vitamin B3 deficiency is traditionally caused by consuming a diet mainly composed of corn and maize. Severe deficiency leads to pellagra, which is characterised by dermatitis, dementia, diarrhoea, and eventually death. Lean meat, poultry, fish, and peanuts are rich in vitamin B3 (niacin); milk and eggs are rich sources of tryptophan ...
VIPoma is characterized by profuse watery diarrhea, hypokalemia, metabolic acidosis, and hypochlorhydria or achlorhydria, in the presence of elevated serum vasoactive intestinal peptide (VIP). VIPomas are highly malignant. Patients usually present with regional lymph node or liver involvement at diagnosis. Surgical resection is the standard ...
Summary. Pulmonary stenosis is mostly congenital. Symptoms range from none to profound cyanosis and the potential for sudden death. Systolic ejection murmur is present and is loudest over left upper sternal border. Cyanotic patients are treated with oxygen and prostaglandin E1 prior to diagnostic testing. The diagnosis is confirmed and severity ...
Mitral stenosis is a narrowing of the mitral valve orifice. Fusion of the leaflet commissures or encroachment by annular calcium reduces the orifice area. Usually occurs as a consequence of rheumatic fever in low- and middle-income countries but is more likely due to mitral annular calcification in high-income countries.
Summary. Phaeochromocytoma is a rare neuroendocrine tumour of the adrenal glands. It can present with palpitations, diaphoresis, pallor, and paroxysmal hypertension. Risk factors include multiple endocrine neoplasia type 2, Von Hippel-Lindau syndrome, and neurofibromatosis type 1. Diagnosed by increased levels of metanephrines and normetanephrines.
Peutz-Jeghers syndrome (PJS) is a rare, autosomal-dominant disorder characterised by hamartomatous polyposis caused by germline mutations in the STK11 gene. The defining features are mucocutaneous pigmentation and gastrointestinal polyposis. The lifetime cancer risk is reported to be as high as 93%, including gastrointestinal and extra ...