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679 A 38 ‐year ‐old man with an unremarkable medical history was referred to the National Cen‐ ter of Familial Hypercholesterolemia in Gdańsk, Poland, because of a significantly increased LDL cholesterol level of 8.24 mmol/l. He presented with arcus cornealis, which is typical of FH, and had a family history of high LDL cholesterol lev‐ els (mother, 9.61 mmol/l; sister, 7.25 mmol/l). Importantly, he had no history of any hypolip‐ idemic therapy. Further genetic testing identi‐ fied the presence of an LDL‐receptor gene mu‐ tation (p.Glu140Asp). Transthoracic echocar‐ diography and the carotid intima ‐media thick‐ ness measurements revealed no abnormalities. Therefore, we decided to extend the standard di‐ agnostic protocol and assess microvascular en‐ dothelial function. Here, we present the results of microcircula‐ tion measurements assessed simultaneously on the forearm during and following brachial ar‐ tery occlusion by LSCI (PeriCam PSI System, Perimed, Järfälla, Sweden) and FMSF (Angioni‐ ca, Ltd., Łódź, Poland). Speckle contrast analysis with colors ranging from blue (low perfusion) to red (high perfusion) showed relatively low basal microvascular perfusion (FIGurE 1A). We also ob‐ served a very weak postocclusive reactive hyper‐ emic response (FIGurE 1B), suggesting a low vaso‐ dilatation potential, which is mainly endotheli‐ um‐dependent. Similarly, FMSF revealed a poor endothelium ‐dependent hyperemic response, while ischemic response, which may reflect tis‐ sue sensitivity to hypoxia, remained within nor‐ mal limits (FIGurE 1C). To the best of our knowledge, this is the first re‐ port on a complex noninvasive assessment of mi‐ crocirculation in a patient with FH. Although less extensively studied, microvascular disorders may precede endothelial dysfunction in large arteries and the subsequent clinical symptoms. Hypercholesterolemia is considered to be the ma‐ jor risk factor for developing a wide spectrum of cardiovascular diseases, including myocardial in‐ farction and stroke. Familial hypercholesterolemia (FH) is an autosomal dominant condition char‐ acterized by highly elevated low ‐density lipopro‐ tein (LDL) cholesterol levels, leading to prema‐ ture cardiovascular disease and death. Although scientific and methodological progress in genet‐ ic investigation have significantly increased its accuracy, most patients with FH still remain un‐ derdiagnosed.1 What is of importance to micro‐ circulation, it has been strongly suggested that development of hypercholesterolemia is firmly associated with endothelial dysfunction.2 Ow‐ ing to its accessibility, peripheral microvascular function has been considered as a prognostic and diagnostic biomarker in cardiovascular disease.3 Laser ‐speckle contrast imaging (LSCI) is a re‐ cently developed technique based on speckle con‐ trast analysis, which provides a quantitative assess‐ ment of microvascular perfusion.3 Laser ‐speckle contrast imaging allows for noninvasive, noncon‐ tact, and real ‐time microcirculation imaging over a wide area of the tissue in response to a given stimulus. Importantly, this technology shows very good reproducibility as well as excellent spatial and temporal resolutions.4 Currently, it is also possi‐ ble to assess the real ‐time changes in tissue bio‐ chemistry. A brand new technique, known as flow‐ ‐mediated skin fluorescence (FMSF), is based on monitoring of the intensity of the reduced form of nicotinamide adenine dinucleotide (NADH) flu‐ orescence signal emitted from the epidermis on the forearm in response to blocking and restoring blood flow. Therefore, FMSF enables clinicians to perform a noninvasive evaluation of microcircu‐ lation and metabolic regulation. Of note, NADH is an important mitochondrial component and plays a pivotal role in cellular energy metabolism.5 CLINICAL IMAGE

Microvascular endothelial dysfunction in a young patient with familial hypercholesterolemia