DIAGNOSING FABRY DISEASE IN CLINICAL PRACTICE

Clinical Manifestations of FD

Classical FD (<3% enzyme activity)

2nd decade

Symptoms appear later.

Neuropathic pain, angiokeratomas, and/or cornea verticillata are absent in females.

	Childhood and adolescence
	Neuropathic pain
	Hypohidrosis and hyperhidrosis
	Febrile crisis
	Eye involvement*
	Hearing loss
	Angiokeratoma
	Microalbuminuria
	GI symptoms

	2nd decade
	Cardiomyopathy
	Stroke and TIA
	Macroproteinuria and eGFR loss

	From 3rd decade
	Progressive organ damage
	Organ failure
	Premature death

	Nonclassical or late-onset FD (3%–30% enzyme activity)
	Variable disease course and single organ involvement
	Cardiac variant is common in late-onset FD
	Identified in patients with stroke, renal failure, or cardiomyopathy
	No neuropathic pain, angiokeratomas, and/or cornea verticillata

FD diagnosis requires a multidisciplinary team approach involving:

Biochemist

Pediatrician

Neurologist

Cardiologist

Dermatologist

Nephrologist

Geneticist

Suggested diagnostic algorithm for patient with clinically suspected FD

Testing for FD

1. Lyso-Gb3 indicates severity of FD

2. Endomyocardial and renal biopsies are used

3. Genetic testing

Testing for FD

Causative mutation
Affected family members
Eligibility for treatment with migalastat

LSD referral centers to manage FD from diagnosis to long-term follow-up

FD:

Rare but underdiagnosed

To be known and recognized by internal medicine physicians

Early treatment can change the natural course of the disease.

^*Eye involvement includes cornea verticillata, tortuous retinal vessels, cataracts, and conjunctival lymphangiectasia.
Rare but To be known and recognized by underdiagnosed internal medicine physicians α-Gal A: Alpha-galactosidase; eGFR: Estimated glomerular filtration rate; GLA: α-Galactosidase A; FD: Fabry disease; GI: Gastrointestinal; LSD: Lysosomal storage disease; Lyso-Gb3: Globotriaosylsphingosine; TIA: Transient ischemic attack.

Reference

Michaud M, Mauhin W, Belmatoug N, et al. When and how to diagnose Fabry disease in clinical practice. Am J Med Sci. 2020;360(6):641–649

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DIAGNOSING FABRY DISEASE IN CLINICAL PRACTICE

Clinical Manifestations of FD

Classical FD (<3% enzyme activity)

Childhood and adolescence

2nd decade

From 3rd decade

Nonclassical or late-onset FD (3%–30% enzyme activity)

FD diagnosis requires a multidisciplinary team approach involving:

Suggested diagnostic algorithm for patient with clinically suspected FD

Testing for FD

Testing for FD

FD:

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