Morbus Fabry: Fallbericht unter besonderer berücksichtigung der enzymersatztherapie sowie möglicher zukünftiger therapieoptionen

Matthias Möhrenschlager; Bertram F. Pontz; Ines Lanzl; Theodor Podskarbi; Verena Henkel; Johannes Ring

doi:10.1111/j.1610-0387.2007.06334.x

Morbus Fabry: Fallbericht unter besonderer berücksichtigung der enzymersatztherapie sowie möglicher zukünftiger therapieoptionen

Translated title of the contribution: Fabry disease: Case report with emphasis on enzyme replacement therapy and possible future therapeutic options

Matthias Möhrenschlager
, Bertram F. Pontz
, Ines Lanzl
, Theodor Podskarbi
, Verena Henkel
, Johannes Ring

Technical University of Munich
Laboratory for Metabolic Genetics
Ludwig-Maximilians-Universität München

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history revealed anhidrosis, acral paresthesias, myocardial infarction, phlebothrombosis, hypertension, antithrombin III deficiency, factor V Leiden disease, chronic obstructive lung disease, tinnitus, diarrhea, recurrent abdominal pain, headache, and depressive mood. He was treated with intravenous substitution of the deficient enzyme α-galactosidase A. Possible future options in treatment of Fabry disease are discussed.

Translated title of the contribution	Fabry disease: Case report with emphasis on enzyme replacement therapy and possible future therapeutic options
Original language	German
Pages (from-to)	594-597
Number of pages	4
Journal	JDDG - Journal of the German Society of Dermatology
Volume	5
Issue number	7
DOIs	https://doi.org/10.1111/j.1610-0387.2007.06334.x
State	Published - Jul 2007

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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10.1111/j.1610-0387.2007.06334.x

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@article{43767f20815b444da5dc976ed186d68c,

title = "Morbus Fabry: Fallbericht unter besonderer ber{\"u}cksichtigung der enzymersatztherapie sowie m{\"o}glicher zuk{\"u}nftiger therapieoptionen",

abstract = "A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history revealed anhidrosis, acral paresthesias, myocardial infarction, phlebothrombosis, hypertension, antithrombin III deficiency, factor V Leiden disease, chronic obstructive lung disease, tinnitus, diarrhea, recurrent abdominal pain, headache, and depressive mood. He was treated with intravenous substitution of the deficient enzyme α-galactosidase A. Possible future options in treatment of Fabry disease are discussed.",

keywords = "A-deficiency, Bone marrow, Chaperone therapy, Enzyme replacement, Fabry disease, Gene therapy, Substrate reduction therapy, Therapy, Transplantation, α-galactosidase",

author = "Matthias M{\"o}hrenschlager and Pontz, \{Bertram F.\} and Ines Lanzl and Theodor Podskarbi and Verena Henkel and Johannes Ring",

year = "2007",

month = jul,

doi = "10.1111/j.1610-0387.2007.06334.x",

language = "Deutsch",

volume = "5",

pages = "594--597",

journal = "JDDG - Journal of the German Society of Dermatology",

issn = "1610-0379",

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number = "7",

}

TY - JOUR

T1 - Morbus Fabry

T2 - Fallbericht unter besonderer berücksichtigung der enzymersatztherapie sowie möglicher zukünftiger therapieoptionen

AU - Möhrenschlager, Matthias

AU - Pontz, Bertram F.

AU - Lanzl, Ines

AU - Podskarbi, Theodor

AU - Henkel, Verena

AU - Ring, Johannes

PY - 2007/7

Y1 - 2007/7

N2 - A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history revealed anhidrosis, acral paresthesias, myocardial infarction, phlebothrombosis, hypertension, antithrombin III deficiency, factor V Leiden disease, chronic obstructive lung disease, tinnitus, diarrhea, recurrent abdominal pain, headache, and depressive mood. He was treated with intravenous substitution of the deficient enzyme α-galactosidase A. Possible future options in treatment of Fabry disease are discussed.

AB - A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history revealed anhidrosis, acral paresthesias, myocardial infarction, phlebothrombosis, hypertension, antithrombin III deficiency, factor V Leiden disease, chronic obstructive lung disease, tinnitus, diarrhea, recurrent abdominal pain, headache, and depressive mood. He was treated with intravenous substitution of the deficient enzyme α-galactosidase A. Possible future options in treatment of Fabry disease are discussed.

KW - A-deficiency

KW - Bone marrow

KW - Chaperone therapy

KW - Enzyme replacement

KW - Fabry disease

KW - Gene therapy

KW - Substrate reduction therapy

KW - Therapy

KW - Transplantation

KW - α-galactosidase

UR - https://www.scopus.com/pages/publications/34447250305

U2 - 10.1111/j.1610-0387.2007.06334.x

DO - 10.1111/j.1610-0387.2007.06334.x

M3 - Artikel

C2 - 17610610

AN - SCOPUS:34447250305

SN - 1610-0379

VL - 5

SP - 594

EP - 597

JO - JDDG - Journal of the German Society of Dermatology

JF - JDDG - Journal of the German Society of Dermatology

IS - 7

ER -

Morbus Fabry: Fallbericht unter besonderer berücksichtigung der enzymersatztherapie sowie möglicher zukünftiger therapieoptionen

Abstract

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