What is the treatment approach for a patient with pectus excavatum, hypermobile joints, and warts?

Treatment Approach for Pectus Excavatum with Hypermobile Joints and Warts

Recognize This as a Connective Tissue Disorder Pattern

This clinical triad strongly suggests hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD), which requires comprehensive multisystem evaluation and management rather than treating each feature in isolation. 1, 2

The combination of pectus excavatum, joint hypermobility, and skin manifestations (warts may reflect broader skin fragility) represents classic skeletal and connective tissue involvement seen in hEDS/HSD. 2, 3 Approximately 71% of patients with severe pectus excavatum demonstrate features consistent with MASS phenotype (Mitral valve prolapse, Aortic root enlargement, Skeletal alterations, Skin alterations), which overlaps significantly with hEDS. 3

Immediate Cardiovascular Evaluation Required

Obtain echocardiography urgently to assess for mitral valve prolapse (present in 15% of pectus excavatum patients) and aortic root dilation, as these carry significant morbidity and mortality risk. 2, 4, 3

• Screen specifically for mitral valve prolapse, which occurs in approximately 15% of pectus excavatum patients and may cause the fainting episodes commonly reported in this population 2, 4
• Measure aortic root diameter with Z-score calculation, as aortic root dilation can occur even without meeting full Marfan syndrome criteria 2, 3
• Assess for cardiac compression or displacement from the pectus deformity 4
• Consider arrhythmia evaluation if fainting episodes are present 2

Screen for Associated Autonomic and Mast Cell Dysfunction

Evaluate for postural orthostatic tachycardia syndrome (POTS) and mast cell activation syndrome (MCAS), as these frequently co-occur with hEDS/HSD and significantly impact quality of life. 1

• POTS screening includes orthostatic vital signs: sustained heart rate increase ≥30 bpm (≥40 bpm in adolescents) within 10 minutes of standing without orthostatic hypotension 1
• MCAS symptoms include flushing, pruritus, urticaria, gastrointestinal symptoms, and may explain recurrent skin manifestations 1
• Consider referral to allergy specialist or mast cell disease research center for additional testing if MCAS suspected 1

Assess Pectus Excavatum Severity and Surgical Candidacy

Obtain chest CT to calculate the Haller index (pectus severity index), as values >3.25 indicate severe deformity warranting surgical consideration. 4, 5

Surgical repair is indicated when two or more of the following are present: 4

• Severe, symptomatic deformity with exercise intolerance or dyspnea
• Haller index >3.25 on CT scan
• Cardiac compression or displacement
• Pulmonary function studies showing restrictive disease
• Mitral valve prolapse or other cardiac pathology secondary to cardiac compression
• Progressive deformity

However, recognize that patients with connective tissue disorders like hEDS may have increased surgical complications due to tissue fragility and poor wound healing. 1 Optimal surgical timing is between ages 12-16 years, though adults can undergo repair with similar results. 6

Manage Joint Hypermobility and Pain

Prioritize physical activity and exercise interventions, as these show the most uniformly positive effects on pain in patients with joint hypermobility and connective tissue disorders. 1

• Implement supervised exercise programs focusing on joint stabilization and muscle strengthening 1
• Consider physical therapy referral for joint protection techniques and appropriate bracing for unstable joints 1
• Avoid opioids for pain management in this population, as they can worsen autonomic dysfunction and MCAS symptoms. 1
• Consider neuromodulators (tricyclic antidepressants, SNRIs, gabapentin, pregabalin) for chronic pain if present 1
• Implement brain-gut behavioral therapies, as studies demonstrate increased rates of anxiety and psychological distress in patients with hypermobility 1

Address Skin Manifestations

Treat warts with standard dermatologic approaches (cryotherapy, topical salicylic acid, or imiquimod), but recognize they may reflect broader skin fragility characteristic of connective tissue disorders. 1

• Document presence of skin striae, as these contribute to systemic scoring for Marfan syndrome and related disorders 2
• Assess for other skin manifestations including easy bruising, poor wound healing, or atrophic scarring 2, 3

Genetic Evaluation and Family Screening

Refer to medical genetics for FBN1 gene testing and comprehensive connective tissue disorder evaluation, as this guides prognosis and management. 2

• Personally examine first-degree relatives for pectus deformities, scoliosis, joint hypermobility, and cardiovascular features, as these are often clinically silent 2
• Calculate systemic score using standardized criteria: wrist AND thumb sign = 3 points, pectus carinatum = 2 points, dural ectasia = 2 points, scoliosis = 1 point, skin striae = 1 point, myopia >3 diopters = 1 point, mitral valve prolapse = 1 point 2

Critical Pitfalls to Avoid

• Do not dismiss this as isolated familial pectus excavatum or benign joint hypermobility without comprehensive cardiovascular evaluation 2
• Do not delay echocardiography even if the patient appears otherwise healthy 2
• Do not use opioids for pain management, as they worsen POTS and MCAS symptoms 1
• Do not proceed with pectus repair surgery without first optimizing cardiovascular status and assessing tissue quality 1, 4

Ongoing Monitoring Strategy

If aortic root is normal (<4.5 cm in adults), perform annual echocardiography; if dilated (>4.5 cm) or growing rapidly (>0.5 cm/year), increase to every 6 months. 2

• Consider β-blocker therapy if aortic root dilation is present, even if not meeting full Marfan criteria 2
• Monitor for development of gastrointestinal symptoms, as 98% of hEDS/HSD patients eventually meet criteria for disorders of gut-brain interaction 1
• Implement POTS lifestyle measures if diagnosed: increased fluid and salt intake, exercise training, compression garments 1
• For MCAS, use histamine receptor antagonists and mast cell stabilizers, while avoiding triggers including certain foods, temperature changes, and mechanical stimuli 1