Diagnostic Pathways

Important Warning

Educational content only. Diagnosis of these conditions is complex and requires specialist consultation. Many standard tests (e.g., basic blood count) appear normal in these diseases, despite the patient's severe condition.

ME/CFS

Clinical Criteria

This is a diagnosis of exclusion. IOM (2015) or Canadian Consensus Criteria (CCC) are used.

  • Key symptom: PEM (Post-Exertional Malaise)
  • Unrefreshing sleep
  • Orthostatic intolerance or cognitive impairment

Gold Standard: CPET

2-day Cardiopulmonary Exercise Test (2-day CPET) objectively confirms PEM.

Warning: This test is very demanding and can trigger severe PEM (worsening of condition).

POTS

Autonomic Tests

  • Tilt Table Test Hospital test on a special table.
  • NASA Lean Test (Active Stand Test) Can be performed in a doctor's office (10 minutes standing against a wall).

Diagnostic Criterion

>30 bpm Heart rate increase within 10 minutes of standing (or >40 bpm in adolescents), without significant blood pressure drop.

MCAS

Hunting for Mediators

MCAS is a "Diagnostic Chameleon" – it affects multiple systems at once. Testing is difficult because mediators disappear from the blood very quickly.

Tryptase

Often normal! Elevated mainly in mastocytosis or during anaphylaxis.

Histamine (Plasma)

Very unstable. Blood must be chilled immediately.

Methylhistamine (Urine)

24-hour urine collection. Often the best indicator of a flare.

Criterion "Ex juvantibus"

Positive response to treatment (H1/H2 blockers) is often an official part of diagnosis when lab tests are inconclusive.

TCS (Zakotwiczenie Rdzenia)

Distinction

  • Overt TCS

    Visible on standard lumbar MRI (low-lying conus medullaris).

  • Occult TCS

    Common in EDS. MRI often described as "normal", even though the filum terminale is fibrotic and tight.

Diagnostic Tips

  • Prone MRI (On stomach) Standard MRI is done on the back. Lying on the stomach may reveal lack of cord movement.
  • Urodynamic Testing Neurogenic bladder often shows the first signs that the cord is stretched.

Craniocervical Instability (CCI/AAI)

The Gravity Trap

Standard supine MRI is often inconclusive. In this position, muscles are relaxed, and gravity does not press the skull against the spine, so the instability "hides" (vertebrae return to place).

Upright MRI

Examination in sitting or standing position, preferably in flexion/extension. This is the only way to see how vertebrae compress the spinal cord under movement.

DMX (Digital Motion X-ray)

X-ray in motion (video), showing vertebrae "sliding" in real-time.

Key Measurements (Radiology)

  • CXA Angle (Clivo-Axial Angle): Angle between the skull base and the odontoid process (risk of brainstem compression).
  • Grabb-Oakes Method: Measurement of compression on the medulla oblongata.
  • BDI (Basion-Dens Interval).

Clinical Test (Traction)

Manual Traction Test: Does pulling the head up (by a physiotherapist) bring sudden relief? If so, it suggests a mechanical component.

The test should be performed by an experienced specialist.

Beighton Score (Hypermobility)

A simple screening tool to assess generalized joint hypermobility (a hallmark of EDS). The maximum score is 9 points.

Assessment Criteria

Little Fingers > 90°

Passive dorsiflexion of the little finger beyond 90 degrees.

Thumb to Forearm

Passive apposition of the thumb to the flexor aspect of the forearm.

Elbows > 10°

Hyperextension of the elbow beyond 10 degrees.

Knees > 10°

Hyperextension of the knee beyond 10 degrees.

Palms to Floor

Placing hands flat on the floor with knees fully extended.

0 / 9

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Remember: This is just a screening test. Diagnosis is made by a doctor (geneticist/rheumatologist) based on full hEDS criteria.