Der Internist
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The case of a 72-year-old female patient with exanthem and concomitant neuropathy of the instep of the foot and progressive ipsilateral lower leg pain is reported. Sonographically, a superficial vein thrombosis with extension into the deep venous system originating from the exanthem was observed. On the basis of the clinical picture as well as the serological and electrophysiological findings, a rare diagnosis of acrodermatitis chronica atrophicans with peripheral neuropathy was made, which could significantly promote the local development of venous thrombosis.
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Case Reports
[Diffuse hyperkeratotic papules of the lower abdomen and genital region in a 38-year old male patient].
A patient with diffuse angiokeratomas of the lower abdomen and genital region was diagnosed with Fabry disease on the basis of genetic testing. Fabry disease is an X-linked lysosomal storage disease that can affect several organ systems including the heart or kidneys, resulting in reduced median survival. Pathogenetically, Fabry disease leads to a deficiency of the lysosomal enzyme α‑galactosidase A (α-GAL A). Treatment options include lifelong enzyme replacement therapy or chaperone therapy.
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The treatment of elevated plasma lipids plays an important role in atherosclerosis prevention. Low-density lipoprotein (LDL) cholesterol lowering with statins and, if required, additional inhibition is of the utmost importance. Lifestyle modification plays only a minor role in LDL cholesterol lowering. ⋯ With respect to elevated triglyceride concentrations, treatment goals are less clearly defined, despite the fact that elevated triglyceride concentrations are causally linked to atherosclerotic events. Lifestyle modification can significantly reduce triglyceride concentrations and are often more effective than specific triglyceride lowering medications. New lipid lowering drugs still need to prove their clinical benefit in endpoint trials.