Signs and Symptoms of Collagen and Vascular Disease in Suspected Spontaneous Intracranial Hypotension
When evaluating a patient with suspected spontaneous intracranial hypotension, collagen and vascular diseases manifest primarily through structural dural weakness rather than specific systemic symptoms, and you should specifically look for connective tissue disorders like Marfan syndrome and Ehlers-Danlos syndrome as predisposing factors. 1
Key Connective Tissue Disorders to Identify
The most relevant collagen vascular diseases in the context of SIH include:
Marfan Syndrome
- Skeletal manifestations: Look for dolichostenomelia (disproportionately long limbs), which is significantly more common in SIH patients compared to controls 2
- Dural abnormalities: Patients develop dural ectasia (weakened, ectatic dura) and meningeal cysts that predispose to CSF leakage 1, 3
- Spinal features: Multiple lumbar diverticula may be present on imaging 3
Ehlers-Danlos Syndrome
- Skin manifestations: Examine for hyperelastic skin, easy bruising, and atrophic scarring 2
- Joint hypermobility: Assess using Beighton hypermobility scores (>4/9 suggests hypermobility) 2
- Dural weakness: The underlying collagen defect causes structural dural weakness predisposing to spontaneous tears 4
Other Connective Tissue Disorders
- Systemic lupus erythematosus: Rarely associated with SIH but has been reported 5
- Autosomal dominant polycystic kidney disease: Can coexist with other connective tissue abnormalities 6
Clinical Presentation of SIH in Connective Tissue Disease Patients
Primary Symptoms
- Orthostatic headache: Severe headache that worsens when upright and improves when lying down 7
- Acute onset: May follow straining episodes or occur spontaneously 3
- Associated symptoms: Nausea, vomiting, neck pain, tinnitus, hearing changes, and photophobia 1, 7
Neurological Manifestations
- Cranial nerve deficits: Most commonly affecting cranial nerves V-VIII 4
- Gait disturbance: May occur due to brain sagging 7
- Dizziness and imbalance: Common accompanying symptoms 7
Risk Factors Specific to Connective Tissue Disease
History of bariatric surgery: Rapid loss of epidural fat may weaken dural support in patients with underlying connective tissue abnormalities 1, 8
Spinal osteophytes: Can perforate weakened dura in patients with collagen disorders 1
Critical Clinical Pitfalls
- High rate of misdiagnosis: SIH remains highly underdiagnosed and frequently misdiagnosed, particularly in patients with connective tissue disorders 8
- Normal CSF pressure: CSF pressure can be normal in patients with SIH; absence of low pressure should not exclude the diagnosis 1
- Normal brain MRI: Approximately 20% of patients with active CSF leak have normal brain MRI findings 8
- Anticoagulation complications: Patients with connective tissue disorders may be on anticoagulation for cardiac complications (e.g., mechanical valve replacement in Marfan syndrome), complicating both diagnosis and treatment 3
Diagnostic Approach in Connective Tissue Disease Patients
Physical examination should focus on:
- Measuring arm span-to-height ratio for dolichostenomelia 2
- Assessing joint hypermobility using standardized Beighton criteria 2
- Examining skin for hyperelasticity and abnormal scarring 2
- Evaluating for skeletal features of Marfan syndrome 2
Imaging findings suggestive of underlying connective tissue disease: