Systemic sclerosis 전신 경화증

이번주는 류마토이드 내과.
첫날인데 전신 경화증 systemic sclerosis 환자가 입원했다 - systemic scelrosis with overlap syndrome (rheumatoid arthritis) 아주 여러문제가 있어서 겸사겸사 모두 해결해보고자. 류마티스 내과 에 입원하는경우는 정말 흔치 않다. 앤간하면 보통 gen med 에 입원하고 우리는 consult 보는 정도. 

Systemic sclerosis (SSc) 

-a chronic multisystem disease characterized by widespread vascular dysfunction and progressive fibrosis of the skin and internal organs

-is a heterogeneous disease, which is reflected by a broad range of organ involvement, disease progression and severity, and outcomes
Scleroderma - describe the presence of thickened, hardened skin (from the Greek "scleros")
Scleroderma is the hallmark feature of systemic sclerosis (SSc)

 

Subtypes 

-associated with different patterns of organ involvement and disease evolution.

1)Limited cutaneous systemic sclerosis 

2)Diffuse cutaneous systemic sclerosis 

3)Systemic sclerosis sine scleroderma 

4)Systemic sclerosis with overlap syndrome (e.g. systemic lupus erythematosus, rheumatoid arthritis, polymyositis, Sjogren's disease) 

 

Epidemiology 

-The overall incidence rates range globally from 8 to 56 new cases per million persons per year

-The majority of patients with SSc are female, with the female to male ratio ranging from 3:1 to 8:1

 

Clinical features 

-pain and fatigue 

Major organ involvement: skin, digital vasculopathy, MSK, GI, lung, heart, kidney, neuro, genitourinary 

1)Cutaneous manifestations

-Skin involvement is a nearly universal feature of SSc - progressive skin fibrosis 

-Fingers, hands, and face are generally the earliest involved areas of the body 

-Pruritus in the early stages 

-Oedema in the early stages 

-Skin hyperpigmentation or depigmentation (salt and pepper) 

-Loss of appendicular hair 

-Dry skin 

-Capillary changes at the nail beds 

-Lipoatrophy 

-Ulcerations over the distal interphalangeal joints (DIP) and proximal interphalangeal joints (PIP) related to repetitive microtrauma over tightened skin 

-Digital tip ulcers and/or pitting at the fingertips 

-Telangiectasia 

-Degos-like lesions 

-Calcinosis cutis 

 

2) Digital vasculopathy 

-Raynaud phenomenon

:episodes of RP may be prolonged, lasting 30 minutes or even longer, and can result in ischemic pain, digital ulceration, trophic changes, and in extreme cases, refractory or progressive ischemia and infarction.

 

3)Musculoskeletal manifestations 

-include arthralgia, arthritis, tendinitis, tendon friction rubs, and small and large joint contractures

-For patients with dcSSc, swelling and stiffness of the fingers, arthralgia, myalgia, and fatigue are among the earliest disease manifestations.

-Joint pain, immobility, and contractures of both small and large joints develop as the result of fibrosis around tendons and other periarticular structures.

 

4)Gastrointestinal involvement 

-Nearly 90 percent of patients with either subtype of SSc (dcSSc or limited cutaneous SSc [lcSSc]) have evidence of gastrointestinal involvement

-Although the esophagus is the most frequently affected part of the gastrointestinal tract, any part of the gastrointestinal tract may be involved.

-dysphagia with choking

-heartburn 

-alternating constipation and diarrhoea 

-episodic pseudo-obstruction 

-bacterial small bowel overgrowth with malabsorption 

-faecal incontinence 

-chronic GORD 

-Vascular ectasia (angiodysplasia) in the antrum of the stomach ("watermelon stomach") is frequent and may be a cause of chronic unexplained gastrointestinal bleeding and anemia. 

 

5)Pulmonary involvement 

-Some degree of pulmonary involvement is present in more than 80 percent of patients with SSc.

-ILD (also called fibrosing alveolitis or pulmonary fibrosis) 

-Pulmonary vascular disease, leading to pulmonary arterial hypertension 

  :occurs in 10 to 40 percent of patients with SSc.

 

-Breathlessness on exertion  -> may progress to dyspnoea at rest 

-nonproductive cough 

- In advanced disease, auscultation over the lungs reveals "velcro" rales most prominent at the lung bases.

 

6)Cardiac involvement 

-All anatomic domains of the heart can be affected in patients with SSc, including the myocardium, pericardium, and conduction system.

    a) Microvascular coronary artery disease

        -anginal-type chest pain in the absence of macrovascular obstructive disease due to pathologic changes in small coronary arteries and arterioles.

       -Treatment: Beta blocker  (potentially exacerbates Raynaud’s phenomenon due to unopposed alpha-receptor activity.) - carvedilol , long-acting dihydropyridine calcium channel blockers 

   b) conduction defects and tachyarrhythmias 

        -bradycardia or tachycardia : most patients are generally asympomtatic 

   c)Autonomic insufficiency 

   d)Pericardial involvement 

   e) Heart failure 

 

7) Kidney involvement 

-60 to 80 percent of patients with dcSSc show pathologic evidence of kidney damage.

-vascular fibrosis and interstitial collagen accumulation

-antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis has been rarely reported

-Microalbuminuria, a mild elevation in the plasma creatinine concentration, and/or hypertension is observed in as many as 50 percent of patients, but generally does not progress to chronic kidney failure

-Life-threatening renal involvement called SRC develops in up to 10 percent of patients 

symptoms

-Abrupt onset of marked or malignant hypertension (although some patients remain normotensive)

-Acute onset of oliguric renal failure

-Urinalysis that reveals only mild proteinuria with few cells or casts

-Microangiopathic hemolytic anemia and thrombocytopenia

 

8)Neuromuscular involvement 

-Muscle atrophy (sarcopenia) 

-muscle weakness 

-myopathy 

 

9)Genitourinary involvement 

-erectile dysfunction 

-sexual dysfunction -decreased vaginal lubrication 

 

10)Cancer risk 

– several reports demonstrating an increased risk of malignancy in patients with SSc

 

11)Thromboembolic risk 

-An increased risk of venous thromboembolism (VTE) has been reported among patients with SSc