ID/CC A 17-year-old male presents with episodes of painful, burning paresthesias along his palms and soles along with markedly diminished vision in his right eye.
HPI His maternal uncle died of chronic renal failure at the age of 40.
PE Clusters of purplish-red, hyperkeratotic lesions on skin around umbilicus, buttocks, and scrotum (ANGIOKERATOMAS); right corneal leukomatous opacity; neurologic exam normal except for painful paresthesias along arms and soles; pitting edema in lower extremities.
Labs Elevated serum creatinine and BUN (patients usually die of renal failure). UA: proteinuria; broad casts. PBS: leukocytes reveal deficiency of a-galactosidase.
Micro Pathology Lipid deposition in epithelial and endothelial cells of glomeruli and tubules (foam cells) on renal biopsy; lysosomal accumulation of glycosphingolipid (ceramide trihexoside) in the form of "myelin bodies" on electron microscopy of skin, heart, kidneys, and CNS.
Treatment Treat pain crises symptomatically; renal failure may require renal transplantation.
Discussion Fabry's disease, a sphingolipidosis, is a rare X-linked recessive disorder of glycosphingolipid metabolism caused by a deficiency of a-galactosidase A and by the consequent accumulation of ceramide trihexoside.
ID/CC HPI PE
Imaging Gross Pathology Micro Pathology Treatment
A 28-year-old white male complains of severe retrosternal pain radiating to his left arm and jaw.
He has not had a physical exam in a long time. He adds that his father died at a young age of a myocardial infarction.
Anguished, dyspneic, diaphoretic male with hand clutched to chest (indirect sign of myocardial pain); soft, elevated plaques on eyelids (xanthelasmas); arcus senilis; painful xanthomas of Achilles tendons and patellae.
Elevated CK-MB; elevated troponin T and I. EGG: MI. Extremely high levels of LDL.
Angio: coronary artery disease.
Premature atherosclerosis in large arteries.
Foam cells with lipid characteristic of atherosclerotic plaques.
Diet, exercise and cholesterol-lowering drugs (althought HMG-GoA reductase inhibitors are ineffective in homozygous FH patients due to complete lack of LDL. receptors). Consider portocaval anastamosis or liver transplantation.
Familial hypercholesterolemia is also called type II hyperlipoproteinemia; it is an autosomal-dominant defect in LDL receptor with a gene frequency of 1:500. Homozygotes may have an LDL count eight times that of normal.
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