Reynolds syndrome

Autosomal dominant - en

Reynolds syndrome is a rare autoimmune disease characterized by the combination of primary biliary cholangitis (PBC) and systemic sclerosis (SSc). It is named after the American physician Telfer B. Reynolds, who first described the syndrome.

Presentation

Patients with Reynolds syndrome typically present with symptoms of both primary biliary cholangitis and systemic sclerosis. Common symptoms include:

• Fatigue
• Pruritus (itching)
• Jaundice
• Raynaud's phenomenon
• Sclerodactyly (thickening and tightening of the skin on the fingers)
• Telangiectasia (small dilated blood vessels near the surface of the skin)

Pathophysiology

The exact cause of Reynolds syndrome is unknown, but it is believed to involve an abnormal immune response that targets the body's own tissues. In PBC, the immune system attacks the small bile ducts in the liver, leading to progressive liver damage. In SSc, the immune system targets the connective tissue, leading to fibrosis and vascular abnormalities.

Diagnosis

Diagnosis of Reynolds syndrome is based on clinical presentation, laboratory tests, and imaging studies. Key diagnostic criteria include:

• Positive anti-mitochondrial antibodies (AMA) for PBC
• Positive anti-centromere antibodies (ACA) for SSc
• Liver biopsy showing features of PBC
• Skin biopsy showing features of SSc

Treatment

There is no cure for Reynolds syndrome, and treatment is primarily aimed at managing symptoms and slowing disease progression. Treatment options include:

• Ursodeoxycholic acid for PBC
• Immunosuppressive drugs for SSc
• Calcium channel blockers for Raynaud's phenomenon
• Physical therapy for skin and joint involvement

Prognosis

The prognosis for patients with Reynolds syndrome varies depending on the severity of liver and skin involvement. Early diagnosis and treatment can help manage symptoms and improve quality of life.

Related Pages

• Primary biliary cholangitis
• Systemic sclerosis
• Autoimmune disease
• Raynaud's phenomenon
• Sclerodactyly
• Telangiectasia