A Rare Cause of Secondary Hypertension; Fabry Disease

Objective & Hypothesis:Fabry disease is an x-linked recessive metabolic storage disorder due to the deficiency of lysosomal α-galactosidase A, and the subsequent accumulation of glycosphingolipids, throughout the body.

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Key Findings & Data:Patients usually present with decreased sweating (anhidrosis or hypohidrosis), reddish-purple skin rash in the bathing trunk area (angiokeratomas), personal or family history of “burning” or “hot” pain in the hands and feet, particularly during fevers (acroparesthesias), cornea verticillata and proteinuria.

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Conclusion & Impact:Here, we have reported a Fabry’s patient who presented with severe hypertension as an unusual presentation.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Fabry disease is an x-linked recessive metabolic storage disorder due to the deficiency of lysosomal α-galactosidase A, and the subsequent accumulation of glycosphingolipids, throughout the body. Patients usually present with decreased sweating (anhidrosis or hypohidrosis), reddish-purple skin rash in the bathing trunk area (angiokeratomas), personal or family history of “burning” or “hot” pain in the hands and feet, particularly during fevers (acroparesthesias), cornea verticillata and proteinuria. In addition, patients can rarely present with severe hypertension. Here, we have reported a Fabry’s patient who presented with severe hypertension as an unusual presentation.

Özet

Fabry hastalığı (FH) X’e bağlı geçiş gösteren ve α-galaktosidaz enzim aktivitesinin azalmasıneticesinde tüm hücrelerde lizozomal globotriasilseramid (GL-3) birikimi ile karakterize sistemik birhastalıktır. Genellikle çocukluk veya puberte döneminde başlayan ekstremitelerde epizodik-intermittantağrı krizleri (akroparesteziler), vasküler deri lezyonları (angiokeratomlar), gözde vasküler tortuozite,subepitalyal kahverengi çizgilenmeler (cornea verticillata), korneal opasiteler, hipohidrozis veproteinüri ile karşımıza çıkmakla birlikte başlangıçta ciddi hipertansiyon ile seyreden nadir olgular daliteratürde bildirilmiştir. Biz de, Fabry hastalığının sık bir başvuru şekli olmayan şiddetli hipertansiyonile başvuran bir olguyu sunduk

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Cite This Article

TÜRKMEN, K., TONBUL, H. Z., SELÇUK, N. Y., BALOĞLU, İ. (2022). A Rare Cause of Secondary Hypertension; Fabry Disease. Türk Nefroloji Diyaliz ve Transplantasyon Dergisi, Cilt: 27 - Sayı: 3, 324–326. https://ajindex.com/articles/636068

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