Differential diagnosis/Misdiagnosis

Many patients have already received various diagnoses in their medical history. The list below shows possible misdiagnoses that can occur with Fabry disease. If several such points apply, this can be an indication of Fabry disease.

The diagnosis of rare diseases is becoming increasingly important in all medical disciplines. However, the process of making a diagnosis is made more difficult by factors such as cost pressure and lack of time. The increasing and certainly necessary specialization, especially in internal medicine departments, means that, for example, diseases involving multiple organs are often not recognized, even though several experts are working on them in parallel or sequentially.

One of the most common misdiagnosis is Somatic Symptom Disorder. In the case of somatoform disorder, it is assumed that there is no physical cause for the symptoms. The symptoms correspond to those of small fiber neuropathy.

Ultimately, only the genetic test gives final certainty.

Brain and nerves

  • Acoustic neuroma (benign brain tumor)
  • Apoplexy (stroke)
  • Benign paroxysmal positional vertigo (attack-like rotary vertigo)
  • CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) (Stroke Disease)
  • Cluster headache
  • Cerebellum/Brainstem infarction
  • Migraine
  • Multiple Sclerosis (Chronic inflammatory neurological disease affecting the central nervous system: brain and spinal cord. More frequent misdiagnoses in Fabry disease!
  • Diabetic neuropathy (damage to nerve cells is a common consequence of diabetes)
  • Parkinson’s Disease
  • Guillain-Barré Syndrome (Inflammatory Nerve Disease)
  • Hereditary neuropathy (peripheral nerve disease)
  • Vestibular neuritis (persistent spinning sensation caused by inflammation of the vestibular nerves)
  • Uremic neuropathy (damage to the peripheral nervous system that accompanies uremia caused by chronic kidney disease (CKD))
  • Horner syndrome is a combination of signs and symptoms caused by the disruption of a nerve pathway from the brain to the face and eye on one side of the body. Typically, Horner syndrome results in a decreased pupil size, a drooping eyelid and decreased sweating on the affected side.
  • Neurofibromatosis type I (occurrence of benign and malignant tumors, especially of the skin and the nervous system)
  • Myalgic Encephalomyelitis/Chronic Fatigue Syndrome ME/CFS. Fatigue Syndrome is characterized by an insurmountable, persistent feeling of physical and/or mental exhaustion
  • Hypermobile Ehlers Danlos Syndrome. The leading feature is increased mobility of the joints.
  • POTS and other dysautonomies

Heart and vessels

  • Arterial hypertension (high blood pressure)
  • Atherosclerosis (degenerative disease of the arterial vessel walls)
  • Chronic venous insufficiency
  • Fibromuscular dysplasia (abnormal thickening of the artery walls)
  • Kawasaki disease or mucocutaneous lymph node syndrome (MCLS) is an acute, febrile, systemic disease (inflammation of vessels throughout the body)
  • M. Rendu-Osler-Weber (unnatural widening of the blood vessels that lead to bleeding or short circuits between veins and arteries)
  • Endocarditis (inflammation of the inner lining of the heart)
  • Long QT syndrome (accompanied by a prolonged QT interval on the electrocardiogram)
  • Drug-induced palpitations (palpitations are the subjective feeling that the heart is beating too fast and too hard or irregularly)
  • Mitral valve prolapse
  • Myocarditis (heart muscle inflammation)
  • Atrial fibrillation (is a heart rhythm disorder in which the atria move rapidly and uncontrollably (fibrillation))
  • Wolff-Parkinson-White syndrome (from birth there is an additional conduction between the atria and the ventricles. Those affected may experience palpitations)
  • Leopard syndrome (refers to congenital malformations of the heart and skin and is therefore also called “cardio cutaneous syndrome”)
  • Velocardiofacial syndrome (chromosomal abnormality with congenital malformations)

Rheumatic diseases

  • Diseases of the rheumatic type
  • Fibromyalgia (Chronic Pain Disorder)
  • Juvenile idiopathic arthritis
  • M. Behçet (rheumatic vascular inflammation)
  • M. Bechterew (ankylosing spondylitis)
  • Rheumatoid arthritis (inflammatory disease of the joints)


  • Ulcerative colitis (inflammation of the large intestine)
  • Diverticulitis (bulging of the lining of the large intestine)
  • Irritable bowel syndrome
  • Ulcus duodeni (duodenal ulcer)
  • Celiac disease (gluten intolerance)
  • Functional dyspepsia (irritable stomach syndrome)
  • Gastritis (inflammation of the stomach lining)
  • Gastrointestinal bleeding (bleeding in the stomach and intestines)
  • Crohn’s disease (inflammation of the gastrointestinal tract)


Metabolic diseases

  • Diabetes mellitus (disorder of sugar metabolism)
  • Gout (deposition of uric acid crystals (urates) in joints and bursae)

Periodic Fever Syndromes

  • Familial mediterranean fever (common symptoms: abdominal pain and fever…)
  • Recurrent fever syndromes (e.g. TRAPS a very rare auto-inflammatory disease)

Autoimmune diseases

  • Sarcoidosis (Boeck’s disease) is a rare inflammatory systemic disease that primarily affects the lungs, but can also affect all organs of the body
  • Sjögren’s syndrome (autoimmune disease in which the immune system damages the tear and salivary glands and sometimes also attacks internal organs)
  • Systemic lupus erythematosus (is an autoimmune disease in which the immune system attacks the body’s own healthy cells, triggering an inflammatory reaction that can lead to organ damage)


  • Glomerulonephritis is inflammation and damage to the filtering part of the kidneys (glomerulus)
  • Nephrotic syndrome disease of the glomeruli is usually caused by damage to the clusters of small blood vessels in your kidneys
  • Schönlein-Henoch nephritis (inflammation of the small blood vessels)
  • TINU (tubulointerstitial nephritis and uveitis syndrome) This is a combination of an inflammation of the skin of the eyes, known medically as uveitis, and an acute inflammation of the kidneys


  • Acral pseudolymphomatous angiokeratoma in childhood (APACHE)
  • Ectodermal dysplasia
  • Primary focal hyperhidrosis (in primary hyperhidrosis there is no disease or external cause for excessive sweating)

Blood diseases

  • Hemolytic uremic syndrome (HUS) Small blood clots can form anywhere in the body. These block the blood supply to vital organs such as the brain, heart and kidneys
  • Porphyrias, is a general term for a group of metabolic diseases that are genetic in nature. In each specific porphyria the activity of specific enzymes in the heme biosynthetic pathway is defective and leads to accumulation of pathway intermediates


  • Duchenne-Becker muscular dystrophy (neuromuscular disease with progressive muscle wasting and weakness)
  • Dermatomyositis (systemic disease of the skeletal muscles, skin and internal organs (kidneys, lungs, heart))


  • Obstructive sleep apnea (OSA) sleep-disordered breathing characterized by shallow breathing and pauses in breathing

Mitochondrial disorder (cell metabolism)

  • MELAS Syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes)
  • Mitochondriopathies (are diseases caused by malfunction or damage to the mitochondria)


  • Hearing loss (sudden one-sided hearing problems)
  • M. Menière (attack-like rotary vertigo)
  • Otosclerosis (denotes increasing ossification of the labyrinth in which the inner ear is located)

Main source:
Hoffmann, Björn; Mayatepek, Ertan, Morbus Fabry – oft gesehen, selten erkannt
Dtsch Arztebl Int 2009; 106(26): 440-7, DOI: 10.3238/arztebl.2009.0440