Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up

Abstract Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the endothelial, nervous system, cardiac, and renal cells. Its heterogeneous and nonspecific presentation, similar to other common pathologies, delays the diagnosis and leads to incorrect therapy. In the presence of attenuated phenotypes with predominant involvement of an organ, it is even harder to identify patients with AFD. It is highly important to be aware of this diagnosis, since enzyme replacement therapy is currently available. This review aims to approach the clinical manifestations of AFD and the phenotypes related to the differential diagnosis for each manifestation and the frequency of follow-up recommended.

Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain

Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of both feet. Continuous epidural infusion for pain management was performed because of oral analgesics ineffectiveness. The patient underwent alpha-galactosidase A (GLA) enzyme analysis based on the clinical impression of Fabry disease from pain with a peripheral neuropathic component and history of anhidrosis. He was diagnosed with Fabry disease after confirming mutation of the GLA gene through a screening test of GLA activity. Enzyme replacement therapy was initiated and pain was tolerated with oral analgesics.

Terapia floral y climaterio femenino / Floral therapy and climacteric

Se realizó un estudio descriptivo, lineal y prospectivo de 50 pacientes que presentaron síntomas climatéricos y acudieron a la consulta de Terapia Floral, con el objetivo de valorar el efecto de la Terapia Floral en el tratamiento de los síntomas. Al total de las pacientes se le aplicó una encuesta y se les indicó el tratamiento, se valoraron nuevamente al concluirlo con lo cual se pudo analizar la evolución de los síntomas. En la muestra estudiada se encontraban los síntomas psicológicos: la depresión, la ansiedad y el nerviosismo. Por otra parte los síntomas neurovegetativos, que son los más molestos por las pacientes, tuvieron un mayor porcentaje de mejoría con respecto al resto de los síntomas. Con excepción de la sequedad de la piel, que sólo obtuvo un 50% de mejoría, el resto de los síntomas tuvo una respuesta positiva con Terapia Floral.

A descriptive, linear, and prospective study was conducted in 50 patients presenting with climacteric symptoms seen at the Floral Therapy Office to assess the effect of this therapy in the treatment of their symptoms. All the patients were surveyed and treatment was indicated. They were examined again at the end of the treatment to assess the patients' evolution. Psychological symptoms, depression, anxiety, and nervousness were found in the studied sample. On the other hand, the neurovegetative syndromes that are the most unpleasant for patients showed a higher percentage of improvement compared with the rest of the symptoms. Excepting skin dryness that had only 50 % of improvement, the rest of the symptoms responded positively to floral therapy.

Capillaroscopy in Fabry disease: Study of a family.

Background: Nail bed capillaroscopy represents a simple and innocuous diagnosis method, used in vasculitis or collagen diseases. In Fabry disease (FD), there is a vasculopathy due to the storage of globotriaosylceramide. This is the first series that studies capillaroscopy in FD. Objective: To describe and evaluate the capillary findings in Fabry patients. Materials and Methods: Eight Fabry patients were selected; five were under enzyme replacement therapy (ERT) with agalsidase-A. Results: In three patients (under ERT), the capillaroscopy showed no abnormalities; two patients had absence of some capillaries (one with ERT); in three (one with ERT) the capillaroscopy revealed ramification of capillaries. Patients with normal capillaroscopy had no symptom of acroparesthesia for more than a year. Conclusions: Capillaroscopy is a good method to evaluate small vessels in FD and seems to have a correlation with ERT benefits, clinical manifestations and capillary findings. We purpose to use the capillaroscopy in the study of Fabry patients.

Diagnosis and Treatment of Tingling Sensation on Hands and Feet

Tingling Sensation on Hands and Feet is one of common sensory symptoms, which is frequently associated with not only peripheral nerve disorders, including polyneuropathies, entrapment neuropathies(carpal tunnel syndrome or tarsal tunnel syndrome) and radiculopathies, but also stroke or peripheral vascular diseases. Despite numerous conditions causing acroparesthesia, characteristic symptoms and signs of each category can afford to inform the critical differentiating clues like followings glove-stocking paresthesia in polyneuroapthy, dermatomal radiating paresthesia in radiculopathy, sensory level in myelopathy, and crossed paresthesia in brainstem lesion. In this review, diagnostic and therapeutic approach to acroparesthesia is schematically described. In addition, neuropathic pain, a special type of pain or unpleasant feeling caused by partial/complete denervation of sensory nervous systems, as one of common causes of acroparesthesia, will be discussed.

A Novel Mutation in Exon 6 in a Patient with Fabry's Disease

Fabry's disease, angiokeratoma corporis diffusum, is a rare X-linked inborn error of glycosphingolipid metabolism due to the lack of the lysosomal enzyme, alpha-galactosidase A, resulting in a progressive intracellular deposition of neutral glycosphingolipids in various tissues, including the dorsal root ganglia, autonomic nervous system, vascular endothelial, and smooth muscle cells. Clinical manifestations of Fabry's disease result predominantly from the progressive deposition of globotriaocylceramide in the nervous system or vascular endothelium, and are characterized by acro-paresthesia, angiokeratoma, corneal opacity, TIA or stroke, ischemic heart disease, and renal failure. We report a case of a 19-year-old man presenting with a 12-year history of severe distal pain, acroparesthesia, short stature, and delayed puberty. An enzymatic assay disclosed substantially diminished alpha-galactosidase A activity and an electron microscopy of the peripheral nerve showed lipid inclusions which were composed of concentrically laminated, ovoid osmiophilic bodies in the perineural fibroblast and endothelial cells. These findings are typical of Fabry's disease and additional genetic study revealed deletion mutation(TTAG) at the 6th exon of the alpha-galactosidase A gene, which is a novel mutation that had never been reported in literatures. Symptomatic treatment with carbamazepine and clonazepam was tried with a good response.