Clinical spectrum of Anderson Fabry disease in a Romanian family.

Anderson Fabry disease (alpha galactosidase A deficiency) is an X-linked recessive lysosomal storage disorder; alpha galactosidase A deficiency results in accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell types promoting development of disease with renal, cardiovascular, and cerebrovascular involvement. Clinical aspects which usually begin in childhood or adolescence include intermittent pain in the extremities (acroparesthesias), episodic "Fabry crisis" of acute pain lasting hours to days, characteristic skin lesions (angiokeratomas), hypohidrosis, heat and cold intolerance. Classic phenotype conception of the disease has changed within the past decade, recognizing that disease is not limited to the classical full-blown manifestation in affected males, but may also occur in carrier females. The expanding clinical spectrum of Anderson Fabry disease (AFD) is a real challenge to diagnosis, especially in some patients whose exclusive single organ manifestation belongs to the heart or kidney. This paper reviews natural history of three unrecognized cases recently diagnosed by markedly deficient alpha galactosidase A (alpha Gal A) activity in peripheral leucocytes. Case A: A male patient, aged 24 years, experienced recurrent acroparesthesia when he was 9 years-old. His 26 years-old sister has angiokeratomas as the only sign of disease (case B). Case C: the uncle of these two cases (A, B) has a long history of disease including chronic renal failure, bilateral deafness, stroke, aseptic osteonecrosis. The purpose of the presentation is to sharpen physicians' perception of this disease. Early and accurate diagnosis is mandatory considering that this disorder is now, after introduction of the novel enzyme replacement therapy, a treatable disease.

Observations on peripheral microcirculation in young hypertensive patients.

The increase of the peripheral blood flow resistance level is the major hemodynamic parameter in pathophysiology of essential hypertension (HT). The functional and morphological abnormalities of the microcirculation in the early stage, sometimes before the increase of the blood pressure, are intensely explored. Their identification is a proof for the genetical component of the hypertensive disease theory (studies on young male patients). Our purpose is to examine the capillary peripheral bed at the terminal phalanx level using in vivo capillary microscopy on a group of patients that have the risk of developing HT or that already have HT stage I (according to the JNC 7 Report). The nailfold area and the dorsal surface of the phalanx of fingers 3 and 4 were observed, having as a first objective the search for the areas with rare capillaries. Contrary to the data of the existing studies we have not found any case of significant capillary density decrease or of diffuse capillary rarefaction. Seven patients out of the total number of fifteen with HT stage I were identified to have a low vasomotility score. Considering the association of these cases with glucose intolerance (3 cases) and dyslipidemia (4 cases) the capillary functional anomaly could be related to precapillary arteriole modifications (endothelial dysfunction? metabolic status?).

Aspects of nailfold capillaroscopy in children and young people with rheumatic disease.

Nailfold capillaroscopy was performed in children and young people with rheumatic disease (42 patients with a variety of childhood rheumatic diseases) and 30 normal control subjects. Distinctive morphologic abnormalities with capillary enlargement, megacapillary and dropout of surrounding structures were noted in two groups: patients with childhood dermatomyositis (DM) and with scleroderma (SD). Capillary abnormalities were found in all 4 patients affected by systemic disease and in none of 7 patients with localized scleroderma. Some minor atypical capillary morphology were observed in normal individuals (37%) but the enlarged capillaries, especially megacapillaries were not found.