Does this patient have hyperparathyroidism? Parathyroid function There are four parathyroid glands which produce parathyroid hormone (PTH). PTH is the primary regulator of calcium homeostasis and vitamin D conversion. PTH maintains the calcium concentration (ionized) in the extracellular fluid within a narrow normal range due to calcium’s wide array of cellular functions. Secretion of PTH…
Does this patient have thyroid syndrome? Thyroid disease can be accompanied by a variety of musculoskeletal manifestations ranging from early growth defects during infancy to adult manifestations including myalgias, arthralgias, myopathy, acropachy and frank arthritis. Musculoskeletal manifestations are most pronounced in extreme states of thyroid dysfunction. A thorough history is essential in evaluating thyroid disease,…
Does this patient have ochronosis? Alkaptonuric ochronosis is the systemic manifestation of accumulated homogentisic acid due to a rare autosomal recessive disorder involving the metabolism of phenylalanine and tyrosine to fumarate and acetoacetate. The defect is a loss of function mutation mapped to chromosome 3q2, which results in the deficiency of the enzyme homogentisate 1,2-dioxygenase.…
Does this patient have hemochromatosis? Hemochromatosis refers to the presence of excess iron storage and the deposition of hemosiderin which causes tissue damage and organ dysfunction. The increased iron absorption is due to either primary or secondary causes. Hereditary hemochromatosis, the primary form, affects males more than females, often with symptoms beginning in their 30-50’s…
