What Are the Common Misdiagnoses for Fabry Disease?
At a Glance
Fabry disease is frequently misdiagnosed because its symptoms affect multiple organ systems and mimic common illnesses. Children are often misdiagnosed with growing pains, while adults are frequently misdiagnosed with Multiple Sclerosis (MS), Irritable Bowel Syndrome (IBS), or heart disease.
In this answer
3 sections
The journey to a Fabry disease diagnosis is often long and frustrating, with many patients waiting 14 to 21 years after their first symptoms before getting the correct answer [1][2]. Because Fabry disease is a rare genetic condition that affects multiple organ systems, its symptoms closely mimic more common illnesses [3]. It is very common for severe nerve pain in the hands and feet to be dismissed as “growing pains” or misdiagnosed as rheumatic fever in children [4]. In adults, unexplained nerve pain and brain imaging changes are frequently mistaken for Multiple Sclerosis (MS) [5][6]. Frequent stomach issues are routinely labeled as Irritable Bowel Syndrome (IBS) [7][8]. Because doctors rarely encounter Fabry disease, they naturally suspect these more common conditions first, leading to a profound “diagnostic odyssey” for patients [3].
Why Does Misdiagnosis Happen?
Fabry disease causes a buildup of a specific fatty substance (often seen on lab reports as GL-3 or globotriaosylceramide) in cells throughout the body [9]. This means symptoms can show up independently in the nervous system, digestive tract, heart, kidneys, and skin [10]. The wide variety of symptoms—and the fact that the disease can look drastically different from person to person—makes it difficult for doctors to connect the dots [3]. Patients typically see specialists from an average of three to four different medical departments (such as cardiologists, neurologists, and gastroenterologists) before a single physician pieces the full picture together [11].
The Extra Hurdle for Women
Historically, Fabry disease was misunderstood as a condition that only affected men, leaving women with an outdated and incorrect label of “asymptomatic carriers” [12]. Because Fabry is an X-linked genetic disorder, women can experience profound, life-threatening organ involvement due to random X-inactivation, yet they often face medical gaslighting and significantly longer diagnostic delays [13]. Additionally, standard blood tests looking for enzyme activity are frequently normal in female patients [14]. This normal result can falsely convince doctors that Fabry is not the issue; a definitive diagnosis in women requires specific DNA testing, known as GLA gene sequencing [14][15].
Most Common Misdiagnoses by Symptom
Severe Extremity Pain
One of the earliest signs of Fabry disease is an intense, burning pain in the hands and feet, known medically as acroparesthesia [10][8]. In children, this severe nerve pain is frequently dismissed as normal “growing pains.” Doctors may also mistakenly diagnose it as rheumatic fever, which has led to some children receiving years of unnecessary antibiotic treatments [4]. In adults, this chronic, unexplained pain is often labeled as fibromyalgia or other general chronic pain syndromes [16].
Neurological Symptoms
In adulthood, Fabry disease can cause neurological symptoms like numbness, tingling, and fatigue [5]. When doctors order a brain MRI, they may see white matter lesions [6]. Because these lesions and symptoms are hallmark signs of Multiple Sclerosis (MS), patients are often misdiagnosed with MS for years [5][6]. Even specific spinal tap tests used to confirm MS (looking for oligoclonal bands) can sometimes be positive in Fabry patients, further complicating the diagnostic process [6]. Measuring specific Fabry biomarkers in the blood is necessary to definitively rule the disease in or out when MS is suspected [17].
Digestive Issues
Gastrointestinal problems—including recurring abdominal pain, cramping, and frequent diarrhea—are very common, especially early in life [10][18]. Because these symptoms are non-specific, they are routinely dismissed as food poisoning, a nervous stomach, or diagnosed as Irritable Bowel Syndrome (IBS) or Inflammatory Bowel Disease [7][19]. In reality, these issues are caused by nerve and muscle damage in the digestive tract related to the underlying Fabry disease [20].
Kidney Problems
Kidney involvement is one of the most critical aspects of Fabry disease, often starting with protein in the urine [21]. Doctors frequently misdiagnose this as generic chronic kidney disease, diabetic nephropathy, or high blood pressure-related kidney damage (hypertensive nephrosclerosis) [21]. Even if a kidney biopsy is performed, specific cellular markers called “zebra bodies” can be misattributed to side effects from other medications rather than recognized as Fabry disease [22][23].
Heart Problems
As the disease progresses into adulthood, patients may develop an enlarged heart muscle, specifically a condition called left ventricular hypertrophy, or irregular heartbeats (arrhythmias) [24][25]. Without investigating the underlying genetic cause, cardiologists often diagnose this simply as primary hypertrophic cardiomyopathy (a much more common heart muscle disease) [26][27].
Skin Changes
Patients frequently develop clusters of small, dark red spots on their skin called angiokeratomas [10]. Because doctors outside of rare disease specialties do not often see these, they are commonly misidentified by general practitioners or dermatologists as simple cherry angiomas, minor rashes, or petechiae (tiny blood spots) [4].
Moving Forward After a Misdiagnosis
Finding out that you were misdiagnosed for years—or even decades—can trigger complex feelings of anger, relief, and grief. It is completely normal to feel frustrated that your pain and symptoms were dismissed or incorrectly treated.
The key takeaway is that having an accurate diagnosis finally opens the door to targeted monitoring and management. Modern treatment options, including enzyme replacement therapy (ERT) and oral chaperone therapy, can help alleviate symptoms like stomach pain and protect your organs from further damage [28]. Knowing your diagnostic history is also incredibly valuable. Sharing your past misdiagnoses with your new care team helps them understand exactly how long the disease has been active and which organ systems need the most immediate evaluation.
Common questions in this guide
What are early Fabry disease symptoms in children often mistaken for?
Can Fabry disease be misdiagnosed as Multiple Sclerosis (MS)?
Why do doctors confuse Fabry disease with Irritable Bowel Syndrome (IBS)?
Why is Fabry disease frequently misdiagnosed in women?
Questions to Ask Your Doctor
Curated prompts to bring to your next appointment.
- 1.Which of my past symptoms or previous diagnoses do you think are actually linked to Fabry disease?
- 2.Now that I have a confirmed diagnosis, which specialists do I need to see to establish a baseline for my heart, kidneys, and nervous system?
- 3.Are my specific genetic mutations amenable to oral chaperone therapy, or am I a better candidate for enzyme replacement therapy?
- 4.What specific blood or urine markers (like GL-3 or lyso-Gb3) will we be tracking to ensure my current organ function is stable?
- 5.If my previous blood tests showed normal enzyme levels (especially if I am female), how was my Fabry disease definitively confirmed?
Questions For You
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References
References (28)
- 1
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Choi JH, Lee BH, Heo SH, et al.
Medicine 2017; (96(29)):e7387 doi:10.1097/MD.0000000000007387.
PMID: 28723748 - 2
Time delays in the diagnosis and treatment of Fabry disease.
Reisin R, Perrin A, García-Pavía P
International journal of clinical practice 2017; (71(1)) doi:10.1111/ijcp.12914.
PMID: 28097762 - 3
Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation.
Selthofer-Relatic K
Case reports in cardiology 2018; (2018()):6131083 doi:10.1155/2018/6131083.
PMID: 29755794 - 4
Misdiagnosis in Fabry disease.
Marchesoni CL, Roa N, Pardal AM, et al.
The Journal of pediatrics 2010; (156(5)):828-31 doi:10.1016/j.jpeds.2010.02.012.
PMID: 20385321 - 5
Author Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.
Palaiodimou L, Stefanou MI, Tsivgoulis G
Neurology 2023; (100(22)):1075 doi:10.1212/WNL.0000000000207416.
PMID: 37248044 - 6
MULTIPLE SCLEROSIS OR FABRY DISEASE - PROS AND CONS.
Zavoreo I, Jurašić MJ, Lisak M, et al.
Acta clinica Croatica 2018; (57(4)):780-784 doi:10.20471/acc.2018.57.04.23.
PMID: 31168218 - 7
Non-specific gastrointestinal features: Could it be Fabry disease?
Hilz MJ, Arbustini E, Dagna L, et al.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2018; (50(5)):429-437 doi:10.1016/j.dld.2018.02.011.
PMID: 29602572 - 8
Paediatric Fabry disease.
Ellaway C
Translational pediatrics 2016; (5(1)):37-42 doi:10.3978/j.issn.2224-4336.2015.12.02.
PMID: 26835405 - 9
Low frequency of Fabry disease in patients with common heart disease.
Schiffmann R, Swift C, McNeill N, et al.
Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(7)):754-759 doi:10.1038/gim.2017.175.
PMID: 29227985 - 10
Angiokeratoma Corporis Diffusum: An Uncommon Case with Suspected Anderson Fabry Disease.
Vadher P, Agarwal P, Mistry A, et al.
Indian dermatology online journal 2020; (11(2)):212-215 doi:10.4103/idoj.IDOJ_136_19.
PMID: 32477981 - 11
Clinical characteristics and interdepartmental collaboration for patients with Anderson-Fabry disease in Shiga Prefecture, Japan.
Tomioka D, Takagi S, Nakazeki F, et al.
Molecular genetics and metabolism reports 2025; (43()):101227 doi:10.1016/j.ymgmr.2025.101227.
PMID: 40475330 - 12
Clinical management of female patients with Fabry disease based on expert consensus.
Brand E, Linhart A, Deegan P, et al.
Orphanet journal of rare diseases 2025; (20(1)):7 doi:10.1186/s13023-024-03500-7.
PMID: 39773286 - 13
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.
Tuttolomondo A, Simonetta I, Duro G, et al.
Oncotarget 2017; (8(37)):61415-61424 doi:10.18632/oncotarget.18250.
PMID: 28977874 - 14
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G, Zizzo C, Cammarata G, et al.
International journal of molecular sciences 2018; (19(12)) doi:10.3390/ijms19123726.
PMID: 30477121 - 15
Diagnosis and Screening of Patients with Fabry Disease.
Vardarli I, Rischpler C, Herrmann K, Weidemann F
Therapeutics and clinical risk management 2020; (16()):551-558 doi:10.2147/TCRM.S247814.
PMID: 32606714 - 16
[Undetected coccyx fracture in a woman with fibromyalgia].
Ranker A, Wegener B, Winkelmann A, Irnich D
Schmerz (Berlin, Germany) 2019; (33(6)):549-554 doi:10.1007/s00482-019-0392-0.
PMID: 31286239 - 17
Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson-Fabry's disease.
Olivera S, Iñiguez C, García-Fernández L, et al.
Multiple sclerosis and related disorders 2020; (38()):101466 doi:10.1016/j.msard.2019.101466.
PMID: 31715500 - 18
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.
Germain DP, Nicholls K, Giugliani R, et al.
Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(9)):1987-1997 doi:10.1038/s41436-019-0451-z.
PMID: 30723321 - 19
Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.
Caputo F, Lungaro L, Galdi A, et al.
International journal of environmental research and public health 2021; (18(6)) doi:10.3390/ijerph18063320.
PMID: 33807115 - 20
Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.
Zar-Kessler C, Karaa A, Sims KB, et al.
Therapeutic advances in gastroenterology 2016; (9(4)):626-34 doi:10.1177/1756283X16642936.
PMID: 27366228 - 21
Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.
Battaglia Y, Baciga F, Shakkour M, et al.
Renal failure 2025; (47(1)):2454295 doi:10.1080/0886022X.2025.2454295.
PMID: 39904758 - 22
Zebra Bodies in the Kidney: Is it a Pathognomonic Finding of Fabry Disease?
Patel PS, Singh PP, Krishna A, et al.
Indian journal of nephrology 2025; (35(2)):298-301 doi:10.25259/ijn_392_23.
PMID: 40060053 - 23
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.
de Menezes Neves PDM, Machado JR, Custódio FB, et al.
BMC nephrology 2017; (18(1)):157 doi:10.1186/s12882-017-0571-0.
PMID: 28499424 - 24
Left ventricular hypertrophy: do not forget Fabry disease. Diagnostic work-up and differential diagnosis.
Paelinck BP, Bondue A, Robyns T, Eyskens F
Acta cardiologica 2024; (79(6)):642-649 doi:10.1080/00015385.2024.2346873.
PMID: 38869089 - 25
Anderson-Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement.
Iorio A, Lucà F, Pozzi A, et al.
Diagnostics (Basel, Switzerland) 2024; (14(2)) doi:10.3390/diagnostics14020208.
PMID: 38248084 - 26
Challenges in the Diagnosis of Anderson-Fabry Disease: A Deceptively Simple and Yet Complicated Genetic Disease.
Marian AJ
Journal of the American College of Cardiology 2016; (68(10)):1051-3.
PMID: 27585510 - 27
Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond.
Nowicki M, Bazan-Socha S, Kłopotowski M, et al.
International journal of environmental research and public health 2021; (18(16)) doi:10.3390/ijerph18168242.
PMID: 34443990 - 28
Gastrointestinal involvement in Fabry disease. So important, yet often neglected.
Politei J, Thurberg BL, Wallace E, et al.
Clinical genetics 2016; (89(1)):5-9 doi:10.1111/cge.12673.
PMID: 26333625
This page explores common diagnostic challenges associated with Fabry disease for educational purposes only. Always consult a healthcare provider or medical geneticist for a professional diagnosis and personalized medical advice.
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