Checklist | FabryFacts.com

Could it be Fabry? Compare the symptoms, diagnostics and family history of your patient.

Fabry Disease Possible

Does your patient's medical or family history exhibit any of the following? (check all that apply)

Patient's Medical History

Any signs of kidney failure such as uraemia or hypocalcaemia?

Family Medical History

Any signs of kidney failure such as uraemia or hypocalcaemia in relatives?
Unexplained incidents of death in the family?

Fabry Disease Probable

These tests can be used to confirm a Fabry disease diagnosis. Learn more about diagnosis

Dry blood test determining:

The genetic mutation
The level of α-galactosidase A (α-Gal A) activity
The biomarker lyso-Gb3

Molecular genetic/ cytogenetic Fabry diagnosis from:

EDTA blood test
Serum
Buccal swab

Could it be Fabry? Compare the symptoms, diagnostics and family history of your patient.

Kidneys

(Micro-) albuminuria
Proteinuria (>300 mg/day)
GFR decrease (GFR <60 mL/min/1.73 m2)
Oedemas in the hands and feet → Note relationship between leg oedema and protein excretion
Parapelvic renal cysts
Progressive renal failure
Dialysis
Rare: renal tubular acidosis and nephrogenic diabetes insipidus

Eyes

Cornea verticillata
Fabry cataract
Corneal opacity
Vascular anomalies of the conjunctiva
Vascular tortuosity of the retina
Optic neuropathy with visual field loss

Ears

Hearing loss (often high frequencies)
Tinnitus
Dizziness

Skin

Angiokeratomas
Dyshidrosis
Telangiectasias

Quality of Life

Reduced physical capacity
Psychological problems
Fatigue
Pain

Nervous System

TIA, stroke
Acroparaesthesia → Burning pain in hands and feet
Small fibre neuropathy
Pain crises
Dyshidrosis
Temperature intolerance
Gastrointestinal discomfort
Basilar ectasia/ectatic vessels (vertebrobasilar)
White matter lesions
Depression/fatigue
Headaches
Reduced lacrimation and salivation

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Cardiology

Cardiac abnormalities

Involvement of all cardiac structures³
Angina pectoris, coronary artery disease, myocardial infarction occur³
Arrhythmia—frequency increasing with age (permanent artificial pacing needed in 10%-20% of patients)^3,8
Left ventricular hypertrophy (LVH) in ~50% of patients³
Other possible symptoms include trouble regulating blood pressure, poor cerebrovascular activity⁸
Cardiovascular disease is a major cause of mortality

Cerebrovascular manifestations

TIA and stroke are common – often before Fabry diagnosis³
Recurrence is common and associated with poor prognosis³
White matter lesions have been associated with Fabry disease³

Fabry Diagnostic Checklist For Cardiologists

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Dermatology

Dermatological symptoms

Angiokeratomas are a hallmark of Fabry disease and an early clinical sign. Commonly occur around the lower trunk, also in the oral mucosa and conjunctiva.^3,8
Diffuse angiokeratomas tend to increase in number and size over time⁸
Hypohidrosis, telangiectasia, and lymphedema are also common³
Increasing recognition of facial dysmorphism³

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Gastroenterology

GI symptoms

~50% of patients with Fabry disease³
Postprandial abdominal pain and diarrhea are common GI symptoms³
Constipation, nausea, and vomiting are also common³
Many affected individuals experience symptoms in childhood and have difficulty gaining weight and height⁸

Fabry Diagnostic Checklist For Gastroenterologists

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Nephrology

Accumulation of GL-3 within lysosomes of glomerular podocytes Renal dysfunction^3,8

~50% of patients with Fabry disease³
Proteinuria is the most common symptom³
Initial manifestations also include impaired glomerular filtration rate and tubular derangements⁸
Eventual glomerular sclerosis, tubular atrophy, interstitial fibrosis may lead to kidney failure⁸
Chronic kidney disease is the main cause of premature death in classic phenotype. Availability of dialysis and transplant has helped to extend life.⁸

Fabry Diagnostic Checklist For Nephrologists

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Neurology

Neurological symptoms

Most frequently reported symptoms in Fabry disease (~80% of patients). Neuropathic pain commonly affects the hands and feet³
Early symptoms related to dysfunction of peripheral and autonomic nervous systems; late symptoms due to vascular complications of central nervous system⁸
CNS symptoms increase with age⁸
Burning/tingling pain—widespread but most frequent in hands/feet⁸
Pain may be triggered by physical activity, cold/heat, fever, stress⁸
Autonomic dysfunction—hypohidrosis, exercise intolerance, altered temperature sensitivity⁸

Fabry Diagnostic Checklist For Neurologists

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Opthalmology

Tortuosity of retinal vessels indicate cornea verticillata

Ocular symptoms

Cornea verticillata (pale, spiral streaks or haze in the corneal epithelium) is a diagnostic criterion (>70% of patients)^3,8,9
Vessel tortuosity may represent a severe phenotype³
Ophthalmic features in ~60% of children with Fabry disease³
Vascular involvement is common in conjunctival blood vessels and retina, and reduced lacrimal secretions may occur⁸
Ophthalmic manifestations do not usually lead to major visual impairment or symptoms⁹

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Otolaryngology

Hearing loss

Auditory and vestibular abnormalities

Hearing loss (especially in the high tone range), tinnitus, and vertigo are common^2,3
Sudden deafness may also occur⁸
~16% of patients with clinically relevant hearing loss³
Hearing loss correlates with neuropathic and vascular damage⁵

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Psychiatry/Psychology

Quality of Life (QoL), depression, and psychosocial effects

Multiple disease symptoms can significantly influence patient quality of life³
Results from a UK-based survey showed that ~ 46% of patients with Fabry disease experienced depression, 28% of whom could be considered clinically severe^3,12
Most common association with depression was neuropathic pain¹³
Depression may be caused by coping with symptoms and/or cerebrovascular disease which can interfere with affective functioning and increase frequency/severity of depression¹³
May be severe neuropsychological impairment due to decline in intellectual and global cognitive functioning¹³

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Pulmonology

Pulmonary effects

Dyspnea with exercise, chronic couth/wheezing are frequent⁵
Airway obstruction is common finding⁵, clinically presenting more like chronic obstructive pulmonary disease than asthma¹⁰
Sleep-disordered breathing and obstructive sleep apnea is highly prevalent¹¹

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References

Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften e.V. Guidelines Catalog No. 030/134. Interdisziplinäre Leitlinie für die Diagnose und Therapie des Morbus Fabry.

Burlina AP, Sims KB, Politei JM, et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol. 2011;11:61.

Di Bella G, Pizzino F, Minutoli F, et al. The mosaic of the cardiac amyloidosis diagnosis: role of imaging in subtypes and stages of the disease. Eur Heart J Cardiovasc Imaging. 2014;15(12):1307-1315.

Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8(9):539-548.

Gal A, Hughes DA, Winchester B. Toward a consensus in the laboratory diagnostics of Fabry disease – recommendations of a European expert group. J Inherit Metab Dis. 2011;34(2):509-514.

Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.

Haas S, Lampl C. Morbus Fabry – Neurologische Klinik und Möglichkeiten der Therapie. J Neurol Neurochir Psychiatr. 2004;5(1):40-43.

Hoffmann B, Mayatepek E. Fabry disease – often seen, seldom diagnosed. Dtsch Arztebl Int. 2009;106(26):440-447.

Namdar M. Electrocardiographic changes and arrhythmia in Fabry disease. Front Cardiovasc Med. 2016;3:1-6.

Niemann M, Liu D, Hu K, et al. Prominent papillary muscles in Fabry disease: a diagnostic marker? Ultrasound Med Biol. 2011;37(1):37-43.

Parchoux B, Guibaud P, Maire I, et al. Fabry‘s disease. Initial nephrogenic diabetes insipidus in children. Pediatrie. 1978;33(8):757-765. [French]

Pisani A, Petruzzelli Annicchiarico L, Pellegrino A, et al. Parapelvic cysts, a distinguishing feature of renal Fabry disease. Nephrol Dial Transplant. 2017 March 28. (ePub ahead of print)