Ten-year-long Enzyme Replacement Therapy Shows a Poor Effect in Alleviating Giant Leg Ulcers in a Male with Fabry Disease

Overview

Journal Mol Genet Metab Rep

Specialty Endocrinology

Date 2018 Jan 13

PMID 29326878

Citations 3

Authors

Jun Okada

Mohammad Arif Hossain

Chen Wu

Takashi Miyajima

Hiroko Yanagisawa

Keiko Akiyama

Yoshikatsu Eto

Affiliations

Soon will be listed here.

Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids. Classical hemizygous males usually present symptoms, including pain and paresthesia in the extremities, angiokeratoma, hypo- or anhidrosis, abdominal pain, cornea verticillata, early stroke, tinnitus, and/or hearing loss, during early childhood or adolescence. Moreover, proteinuria, renal impairment, and cardiac hypertrophy can appear with age. Enzyme replacement is the most common therapy for Fabry disease at present which has been approved in Japan since 2004. We report a case involving a 27-year-old male with extreme terminal pain, anhidrosis, abdominal pain, tinnitus, hearing impairment, cornea verticillata, and recurrent huge ulcers in the lower extremities. At the age of 16 years, he was diagnosed with Fabry disease with a positive family history and very low α-gal A activity. He then received enzyme replacement therapy (ERT) with recombinant human agalsidase beta at 1 mg/kg every 2 weeks for 10 years. Throughout the course of ERT, his leg ulcers recurred, and massive excretion of urinary globotriaosylceramide and plasma globotriaosylsphingosine was observed. Electron microscopy of the venous tissue in the regions of the ulcer showed massive typical zebra bodies in the vascular wall smooth muscle cells.

Citing Articles

A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging.

Anker P, Fesus L, Kiss N, Lengyel A, Pinti E, Lihacova I Diagnostics (Basel). 2023; 13(14).

PMID: 37510112 PMC: 10378346. DOI: 10.3390/diagnostics13142368.

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the gene.

Hossain M, Wu C, Yanagisawa H, Miyajima T, Akiyama K, Eto Y Mol Genet Metab Rep. 2019; 20:100497.

PMID: 31372342 PMC: 6661284. DOI: 10.1016/j.ymgmr.2019.100497.

An overlooked cutaneous manifestation of Fabry disease: Lower-extremity ulcers.

Gulseren D, Tabak G, Gokoz O, Elcin G Int Wound J. 2019; 16(3):868-870.

PMID: 30924275 PMC: 7948809. DOI: 10.1111/iwj.13111.

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