The “zebra”: In medical jargon, this term refers to an unlikely diagnosis based on various symptoms that could be better explained by another, possibly simpler diagnosis.

Rare things are rare, common things are common. We know this saying all too well. However, thanks to today's medical diagnostic capabilities and a multitude of case reports, we are increasingly able to turn rare things into “common” things, because you can only find what you are looking for.

“Rare diseases”

There are now a large number of rare diseases that we are seeing more and more frequently, partly because simpler diagnostic options are available. The Federal Ministry of Health is also providing more and more funding for research and optimization of diagnostics.

Among other things, special “outpatient clinics for rare diseases” are being set up at various centers.

Below are some combinations of symptoms that may indicate one of these rare diseases, also known as “red flags.” However, the presence of some symptoms does not necessarily mean that the disease is present.

“Research means seeing what everyone sees and thinking what no one else thinks.”
Johann Wolfgang von Goethe

Fabry disease

• Unexplained kidney failure (sudden increase in creatinine)
• Early deaths among close relatives, particularly due to kidney failure or heart problems
• cardiac arrhythmia
• Enlargement of the left ventricle without explanation
• Stroke or TIA at a young age
• Pain in hands and feet/worsening with heat/exertion
• Angiomas/angiokeratomas
• Cornea verticillata (spiral-shaped deposits in the corneal epithelium)
• Reduced ability or inability to sweat
• Early deaths among close relatives, particularly due to kidney failure or heart problems

amyloidosis

• Bilateral carpal tunnel syndrome
• spinal canal stenosis
• Symmetrical, primarily sensory peripheral polyneuropathy
• Repeated position-dependent low blood pressure (especially with ACE inhibitors: e.g., ramipril)
• stress fainting
• angina pectoris
• Autonomic neuropathy
• Constipation/diarrhea, insufficient nutrient absorption in the intestine
• Chronic inflammatory disease
• Sudden spontaneous hematomas around the eyes

CAPS (Cryopyrin-associated periodic syndromes)

• Recurring rash
• fever spikes
• Exhaustion, fatigue
• Joint and muscle pain
• Eye redness, inflammation
• Gradual hearing loss
• Symptoms worsen with cold weather and stress; symptoms are often continuous.

Gaucher disease

• Unexplained bleeding
• Newly occurring neurological symptoms
• Anemia (low blood count)
• Persistent bone pain
• Unexplained bone fractures
• Verzögertes Wachstum
• Enlargement of the liver and spleen
• thrombocytopenia

hemochromatosis

• Elevated ferritin (iron storage)
• Fatigue / Decrease in physical performance
• Depressive mood
• upper abdominal pain
• Palpitations, shortness of breath
• Loss of libido, irregular periods
• hair loss
• Arthralgia (fingers, knees, hips)
• joint swelling
• Hyperpigmentation (bronze discoloration)
• Diabetes mellitus
• Gynecomastia

MPS (mucopolysaccharidoses)

• skeletal malformations
• corneal opacity
• Coarse facial features
• Enlarged tongue
• joint stiffness
• Enlargement of the liver and spleen
• Increased hair growth
• Mental retardation
• seizures
• short stature
• Carpal tunnel syndrome Hydrocephalus
• Valve changes, cardiovascular disease
• hearing impairment

mast cell activation syndrome

The symptoms of MCAS can be varied and are usually triggered by exogenous factors (including triggers absorbed through the respiratory tract and, predominantly, through the intestines). Common allergic reactions:

• Blurred vision
• Itchy eyes
• Irritated mucous membranes, sometimes with mouth ulcers
• Swelling of the throat or feeling of a lump in the throat
• Asthma, shortness of breath, burning sensation in the lungs
• Tinnitus, ringing in the ears, “blocked” ears
• Unstable blood pressure
• Syncope and/or presyncope
• Rapid heartbeat, heart palpitations, pounding heart
• Abdominal pain, flatulence & bloated stomach
• Vomiting, nausea, diarrhea, constipation
• Reflux/heartburn
• Gastrointestinal bleeding
• Gastritis, gastroenteritis
• Flush, urticaria/hives, itching, hot flashes
• Muscle pain and burning
• tension
• Joint and bone pain
• Irritability, concentration problems, brain fog, depressive mood
• shock-like symptoms, including anaphylaxis
• Restless legs syndrome, tremor
• flu-like feeling
• Fatigue and severe exhaustion

Trigger:

• drug intolerances 

• • In particular, salicylates, codeine, polymyxin B, morphine, dextran, aspirin, alcohol, dyes,
  • Local anesthetics, X-ray contrast media
  • anesthetics

• insecticide
• animal poison 

• • Bees, wasps, jellyfish, snakes, etc.

• Food & smells 
• Foods containing histamine

• • Cheese, fish, smoked meats
  • preservative

• Coloring agents and artificial flavors
• hot, spicy food
• alcohol
• physical factors 

• • Temperature changes, heat, cold, sunlight
  • Friction, jolting, massages, physical therapy

• Reibung, Erschütterungen, Massagen, Physiotherapie
• psychological factors 

• • Excitement, emotional stress

• lack of sleep
• infections 

• • especially viral infections

• hormones 

• • Thyroid gland, menstrual cycle

• Allergens and vaccinations 

• • Allergies and live vaccines