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SummaryFabry disease, OMIM 301500, is a progressive multisystem storage disorder due to the deficiency of ?-galactosidase A (GALA). Angiokeratoma corporis diffusum (Fabry disease) is an X-linked inherited disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase. A defect in the activity of alpha-galactosidase, a lysosomal enzyme, results in the insidious storage of 2 neutral glycosphingolipids: trihexosylceramide (galactosylgalactosylglucosylceramide) and digalactosylceramide (galabiosylceramide).
Angiokeratoma corporis diffusum (Fabry disease) is rare; the estimated incidence is 1 case per 40,000 population. Most occurrences of angiokeratoma corporis diffusum (Fabry disease) are in whites; however, Fabry disease has been reported to occur in black persons, Latin Americans, Native Americans, Egyptians, and Asians. Before the advent of enzyme replacement therapy, renal failure secondary to uremia and hypertension was the major cause of death for men with angiokeratoma corporis diffusum (Fabry disease) aged 30-39 years, followed by congestive heart failure and cerebrovascular accidents.
Angiokeratoma corporis diffusum (Fabry disease) is variable in its clinical symptoms and, as a result, can be a challenge to define if it does not manifest in classic fashion or in a person whose family is not known to have Fabry disease.
Recurrent fevers and vague pain in the hands and feet, resulting in periodically incapacitating pain in the fingers, toes, and occasionally the entire extremity, usually precede physical signs of Fabry disease.
In 2007, Moeller and Jensen8 noted that females with Fabry disease who present with pain and neurological symptoms are often not appropriately assessed and are misdiagnosed.
As stated, the second type of pain is a nagging, chronic, constant discomfort in the hands and feet, characterized by burning tingling paresthesias.
Some patients with Fabry disease manifest with chronic exercise-induced pain, fasciculations, and cramps of the feet and legs.
Subsequently, angiokeratomas develop, which are the typical skin lesions for which the disease is named.
With the relentless progression of the disease, cardiac infiltration can result in angina, myocardial infarction, mitral valve prolapse, congestive heart failure, hypertension, mitral insufficiency, and left ventricular hypertrophy. Similarly, glycolipid deposits in the CNS result in paresis, seizures, hemiplegia, labyrinthine disorders, aphasia, tremor, sensory disturbances, and loss of consciousness. Renal pathology is one of the hallmarks of Fabry disease and is the most frequent cause of death, usually when patients are aged 30-50 years. Polyuria due to concentration defects can be among the first manifestations of kidney malfunction but, in many cases, does not prompt testing that leads to a diagnosis.3 As persons with Fabry disease approach age 20 years, proteinuria increases as the patient ages. Polarization microscopy of the sediment of urine demonstrates birefringent lipid globules (ie, renal tubular epithelial cells or cell fragments with lipid inclusions) with the characteristic Maltese cross configuration. Birefringent inclusions in the urinary sediment (ie, fat-laden epithelial cells or mulberry cells) may be noted. While protein, red blood cells, casts, desquamated urinary tract cells, and the characteristic Maltese crosses of lipid globules can be seen in childhood, the kidneys do not exhibit signs of deterioration until the patient is older. When the GI system is affected, a patient with Fabry disease has a history of intermittent nonbloody diarrhea and proctocolitis.
Rheumatologically, patients may have arthritis of the distal interphalangeal joints with some loss of motion and limitation of movement of the temporomandibular joints. Dominguez et al,12 in 2007, found that restless legs syndrome is common in Fabry disease patients and is associated with neuropathic pain. Physical findings involve the skin, heart, lungs, extremities, eyes, and neurologic system. The hallmark of the disease, angiokeratoma, is a lightly verrucous, deep-red to blue-black papule varying in size from punctate to 0.5 cm. Early, small lesions may not be hyperkeratotic; however, as lesions age and enlarge, their surfaces become somewhat crusty. The papules of Fabry disease are symmetric and do not blanch with pressure (diascopy negative). Angiokeratomas can appear almost anywhere; however, typically they spare the face, scalp, and ears. Other skin findings include varicose veins, stasis-related edema, lymphedema of the arms and legs, and edematous upper eyelids.
Sadick and Thomas14 studied the heart pathology in 12 patients and reported that 5 had cardiovascular symptoms, 9 had left ventricular hypertrophy on ECG tracings, 1 had a short PR interval, 3 had epicardial coronary disease, 4 had a rat-tail appearance on left-sided ventriculogram images, and 6 were assessment by myocardial biopsy, which demonstrated extensive vacuolation of the myocytes on light microscopy and concentric, myelinoid lamellar cytoplasmic inclusion bodies on electron microscopy.
Ocular changes may be specific, and the diagnosis may be made on the basis of ophthalmologic examination findings. Corneal changes vary from diffuse haziness to corneal opacities characterized by whorled streaks extending from a central point to the periphery of the cornea.
Posterior capsular cataracts with whitish spokelike deposits of granular material may be seen. Occasionally, aneurysmal dilatation of thin-walled venules is seen on the bulbar conjunctiva. In a study of 25 patients with Fabry disease, Wasik et al found more bushy capillaries and clusters of vessels in persons with Fabry disease (72%) versus those without disease (10%). Neurologic findings include multifocal small vessel involvement, which may result in hemiplegia, hemianesthesia, balance disorders, and personality changes. Osteopenia and osteoporosis have been linked to Fabry disease.19 Bilateral femoral head and distal tibial osteonecrosis have also been linked to Fabry disease.
Gastrointestinal symptoms were found to be common patients with Fabry disease, as reported by Hoffmann et al in 2008. As a multisystemic disease, angiokeratoma corporis diffusum requires treatment by a number of specialists. Dermatology: Carbon dioxide laser treatment can improve cosmetic appearance by removing angiokeratomas from the skin. Nephrology: Renal insufficiency, the most common cause of mortality, can be treated with hemodialysis or kidney transplantation. Neurology: Two antiseizure medications, diphenylhydantoin and carbamazepine, are the most helpful in alleviating the debilitating pain of neurologic involvement. Gene therapy: In recent years, nucleoside sequencing of the entire alpha-galactosidase A gene has enabled theoretical treatment using recombinant technology. Replacement therapy: Occasionally, infusions of plasma or partially purified enzyme from healthy donors have produced promising results. Neurological and vascular manifestations of this disorder with regard to hearing loss have not been analysed quantitatively in large cohorts. Currently, mortality due to renal pathology seems to be decreasing, leaving cardiac issues as an increasing cause of morbidity and mortality among patients with Fabry disease.5 Heterozygous females develop angiokeratomas and cataracts and experience a milder clinical course. The classic presentation of Fabry disease is a male with initial manifestations occurring in childhood or adolescence.


This is likely because many physicians assume that Fabry disease's X-linked pattern of inheritance means it cannot occur in women.
Angiokeratomas usually manifest after puberty and increase in number with age; they can become generalized and involve the mucosa. In 2005, Choudhury et al10 reported an 11-year-old boy with Fabry disease who had a 6-year history of widespread petechia, rare papules with an overlying crust, and acral paresthesias of the hands and feet. An idiopathic or cutaneous variant of angiokeratoma corporis diffusum has been described as a discrete clinical category of disease occurring only in the skin in persons with no metabolic disease or lysosomal defect. Although ocular involvement may be extensive (affecting the lens, cornea, conjunctiva, and retina), visual impairment is unusual. Other cardiac findings may include angina pectoris, aortic outflow abnormalities, arrhythmia, coronary artery disease, myocardial infarction, myocardial ischemia, ECG abnormalities, valvular lesions, varicose veins, and altered vasomotion. Mental retardation, hearing loss, and renal failure are also linked to angiokeratoma corporis diffusum.
Lesions tend to concentrate between the umbilicus and the knees, with a predilection for the scrotum, penis, lower back, thighs, hips, buttocks, and lips.
In 2007, Linhart et al13 noted that while Fabry disease has well-described associations with microvascular disease, deficiency of GLA is associated with premature macrovascular events such as stroke and, likely, heart attack. This type of cataract may be the first sign of ocular involvement and is so characteristic that it has been dubbed the Fabry cataract. Conjunctival vascular tortuosity may be the most common eye finding associated with Fabry disease. Chiari type I malformation has been reported in some patients with Fabry disease and should be sought if apposite MRI screening is performed.
Treatment is intended to extend the lifespan of affected patients and make their lives more comfortable, especially in light of the often excruciating pain they experience. Variable pulse width 532-nm Nd:YAG laser therapy, 578-nm copper vapor laser therapy, and flashlamp-pumped dye laser therapy can also be used to treat angiokeratomas.
Renal transplantation may benefit patients because it supplies a source of the missing enzyme alpha-galactosidase A. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.AbstractObjective. We conducted a retrospective cross sectional analysis of hearing loss in 109 male and female patients with Fabry disease who were referred to and seen at the Clinical Center of the National Institutes of Health, Bethesda, MD, USA on natural history and enzyme replacement study protocols.
According to Larralde et al,3 inheritance of the abnormal gene among whites (resulting in a hemizygous boy or a heterozygous girl) has been estimated to occur once in every 117,000 live births. Paroxysmal vertigo has occurred as an initial manifestation of Fabry disease, which may initially help to establish the diagnosis. Angiokeratomas occur as a result of lysosomal storage of Gb3 in cutaneous endothelial cells. Significant clinical improvement and enhancement of quality of life have been achieved with enzyme replacement therapy (ERT), in particular at the early stages of Fabry disease, with positive benefits for the cardiac and renal systems and a decrease in pain.Early detection of Fabry disease has made extending the lifespan and improving the quality of life possible for these patients.
To determine the effects of enzyme replacement therapy (ERT) on the hearing acuity in patients with Fabry disease.
There were 85 males aged 6–58 years (mean 31 years, SD 13) and 24 females aged 22–72 years (mean 42 years, SD 12). Deposition of glycosphingolipids can be attributed to both endogenous production and diffusion of material from the circulation.
The scope is vast and ranges from asymptomatic carriers to carriers with fully expressed Fabry disease. This results in impairment of capillary wall integrity and the development of secondary ectasias. The administration of recombinant human alpha-galactosidase or agalsidase beta replacement therapy can reverse and delay cardiac, renal, and neural damage to patients with Fabry disease. Hypohidrosis or anhidrosis can be treated with moisturizers and topical applications of artificial lacrimal fluid and saliva. As a result of the lack of this lysosomal enzyme that breaks down the glycolipid, persons with Fabry disease have 3-10 times the normal amount in their serum.Larralde et al3 have extensively explained the mechanism behind Fabry disease.
Fabry disease is commonly associated with a corneal opacity that can only be noted with slitlamp biomicroscopy.
It is not clear which enzyme therapy is superior and both therapies are helpful at enhancing health.Future treatments of Fabry disease that seem promising include (1) substrate deprivation based on the inhibition of an earlier step in the synthesis of the accumulating glycosphingolipid and (2) gene therapy. The study sample comprised 34 ears of 17 affected patients who underwent pure-tone audiometry before and after ERT.
In addition, cerebral white matter lesions, peripheral neuropathy, and kidney function were quantitatively assessed. The enzymatic defect in Fabry disease results in the accumulation of uncleaved glycosphingolipids in many human cell types.
Intermittent Fabry crisis is the term for incapacitating sharp pain lasting minutes to days.
Particular types consist of endothelial cells, blood vessel cells, pericytes, vascular smooth muscle cells, renal epithelial cells, myocardial cells, skin structure cells, neuronal cells, and corneal cells.Persons with Fabry disease who have type AB or B blood also accumulate blood group B glycosphingolipids (those with alpha-galactosyl-terminated residues) and can have more severe Fabry disease (related to greater body substrate mass) than patients with blood group A. Approximately 30% of female carries have angiokeratomas, with less than 10% having paresthesias. The patients were studied in relation to factors such as changes in hearing, presence of accompanying symptoms, status of renal and cardiac function, age, and gender. Fabry, “Beitrag zur Kennthis der Purpura heamorrhagica nodularis,” Archives of Dermatology and Syphilology, vol. Prevalence of HL95 was lower in the group of patients with residual GALA enzyme activity compared with those without detectable activity (33% versus 63%) HL95 was present in the low-, mid- and high-frequency ranges for all ages.
This is because these blood groups have 2 additional terminal alpha-galactosyl moieties.Specifically, deposits in lysosomes of endothelial, perithelial, and smooth muscle cells of blood vessels cause swelling into the hollow bore of the blood vessel. A 2004 study by Larralde et al3 of obligate female carriers found significant disease manifestations in 20 of 60 women.
Crises can be triggered by any kind of stress, including disease, extremes in temperature, exercise, or emotional trauma. Data of pure-tone audiometry obtained before ERT and at the final examination were compared.
In so doing, the vessels are narrowed and reactively expand, which leads to ischemia and infarction. Another study performed on 20 carriers of Fabry disease showed that each woman had some symptom of Fabry disease, with a wide scope of manifestations.


In addition to pain, a crisis can also manifest with fatigue, low-grade fever, and joint pain.3 The Fabry Registry7 published the baseline demographic and clinical characteristics of the first 1765 patients enrolled in the Fabry Registry.
This occurs, to a greater or lesser extent, in all affected cells, underlying the protean manifestations of Fabry disease.In 2004, Larralde et al3 report that most families have "private" mutations (ie, mutations found only in that particular family).
Larralde et al3 concluded that Fabry disease might be designated a storage disease transmitted as an X-linked–dominant, not X-linked–recessive, disease.
At the end of the follow-up period, no significant worsening of hearing acuity was noted at the end of the follow-up period.
There was no significant association with cold perception deficit, creatinine or BUN in the females. The median ages at symptom onset and at diagnosis are 9 and 23 years, respectively, for males and 13 and 32 years, respectively, for females. Word recognition and acoustic reflexes analyses suggested a predominant cochlear involvement. Frequent presenting symptoms in males include neurological discomfort and pathology (62%), skin signs (31%), gastroenterological signs (19%), unspecified renal pathology (17%), and ophthalmological pathology (11%). We conclude that hearing loss involving all frequency regions significantly contributes to morbidity in patients with Fabry disease. Similar to other entities with this inheritance pattern, hemizygous males are most severely affected. Frequent presenting symptoms in females include neurological pain (41%), gastroenterological symptoms (13%), ophthalmological symptoms (12%), and skin eruptions (12%).In men and women with Fabry disease reporting renal progression, the median age at occurrence was 38 years for both men and women. Our quantitative analysis suggests a correlation of neuropathic and vascular damage with hearing loss in the males. The female carrier of this disease has diminished levels of alpha-galactosidase, which is enough to cause some symptoms but also to be spared the full clinical manifestations. In men and women with Fabry disease reporting an onset of cerebrovascular and cardiovascular events, the median age at occurrence was 43 and 47 years, respectively, for females, and 38 and 41 years, respectively, for males. Deficient alpha-galactosidase A activity can be present in the plasma in persons who do not have the full manifestations of Fabry disease. Bonfils, “Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients,” BMC Medical Genetics, vol. Fabry disease is a progressive debilitating disorder affecting a multitude of organ systems. Most patients with Fabry disease have a complete loss of GALA enzyme activity, but some individuals maintain residual enzyme function. There were 85 males aged 6–58 years (mean 31 years, SD 13) and 24 females aged 22–72 years (mean 42 years, SD 12) (Table 1).
The remaining 73 patients were followed on natural history protocols studying phenotypic heterogeneity of the disease. All patients were seen at the National Institutes of Health (NIH) between 1996 and 2003 after having provided written informed consent.Patients were referred to NIH by their local physician or contacted the institution directly for self-referral. Fluorometric assay of residual GALA activity was performed as previously described (Kusiak et al., 1978). Moriyama, “The hearing status in 12 female and 15 male Japanese Fabry patients,” Auris Nasus Larynx, vol. Conductive hearing loss was defined as an average bone conduction threshold of ?20 dB HL and an average air–bone gap of ?15 dB HL. These percentiles account for differences in the distribution of hearing levels by age and gender. These normative hearing data were derived from the Baltimore Longitudinal Study of Aging, and were collected from subjects who had been systematically screened to rule out otological disorders and noise induced hearing loss. Percentiles for 8000 Hz were obtained from the International Organization for Standardization standards (ISO, 1984).
Test frequency regions were also categorized into low (500 Hz), mid (1000–2000 Hz) and high (4000–8000 Hz).Word-recognition abilitySuprathreshold word-recognition ability for phonetically balanced monosyllabic words was reported as percent correct. Word recognition scores were evaluated in the context of the degree of hearing loss as represented by the three-frequency pure-tone average (500, 1000 and 2000 Hz) using confidence limits previously established (Dubno et al., 1995). Colvin et al., “Globotriaosylceramide accumulation in the fabry kidney is cleared from multiple cell types after enzyme replacement therapy,” Kidney International, vol.
Word-recognition scores <88% but within the confidence interval for degree of hearing loss were consistent with cochlear pathology. Word-recognition scores poorer than the 95% confidence limit (95% CI) were consistent with retrocochlear pathology.Middle ear acoustic immittance measurementMiddle ear pressure and peak compensated static compliance were quantified from the tympanograms to evaluate middle ear function.
Middle ear pressures and compliance values outside of these ranges were classified as abnormal (Margolis and Heller, 1987).
Sergi, “Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females,” Acta Paediatrica, vol. Measures of central tendency were compared by t-tests or ANOVA for normally distributed data or non-parametric statistics (Mann–Whitney test) for data of non-Gaussian distribution.
Data are presented as mean ± SD or median and interquartile range (IQR).ResultsType and degree of clinical hearing lossTypes of hearing loss, classified according to the clinical definitions and based on the three-frequency pure-tone average of 500, 1000 and 2000 Hz, are summarized in Table 3 for each tested ear. Sensorineural was the most common type, occurring in 72% of male and 86% of female ears with clinical hearing loss.
Yoshida et al., “Inner ear pathology of alpha-galactosidase A deficient mice, a model of Fabry disease,” Auris Nasus Larynx, vol. Degree of clinical hearing loss (Table 4), based on the four-frequency pure-tone average of 500, 1000, 2000 and 4000 Hz, was classified as normal for the majority of subjects.
HL95 was observed for all ages and at all frequencies, most commonly in high frequencies (Fig. 1 Age- and gender-adjusted determination of hearing loss (HL95) in (A) male and (B) female patients with Fabry disease at various frequencies. The solid line indicates the 95th percentile, the interrupted line indicates the 50th percentile. The cut-off for clinical hearing loss is 20 dB HL (grey line), which does not take age and gender into consideration.



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