Methods
On examination in our hospital, the patient’s vital signs are normal. There were no noticeable aberrant lung or cardiac murmurs. The skin of the neck and back was diffusely hardened and thickened with a smooth surface and normal hairs. His hands, feet, or upper or lower limbs were not involved. There were no finger ulcers, calcification, or sclerosis (Figures 2A and 2B). The patient’s fasting glucose and glycated hemoglobin A1(HbA1c) were both high, and a clear diagnosis of type 2 diabetes was made available by further implementing the glucose tolerance test (OGTT) (a standardized OGTT of 75 g for 2 hours was performed after an overnight fast). Total cholesterol (TC), Triglyceride (TG), and Low-density lipoprotein cholesterol (LDL-C) concentrations were high, and High-density lipoprotein cholesterol (HDL-C) concentrations were low. Antistreptolysin-O (ASO), antistreptolysin kinase (ASK), anti-Scl-70, anti-Jo-1, anti-PM-SCL antibody, anti-RP3 antibody, anti-keratin antibody, erythrocyte sedimentation rate, and rheumatoid factor were all negative in the blood. The value of α-Galactosidase A(α-Gal-A) tested by dried blood spot (DBS) was 4.74 (normal range, 2.40 to 17.65). Thyroid function tests and serum protein electrophoresis results were normal. Other laboratory test results are shown in Table 1.
An electrocardiogram showed high left ventricular voltage and mild widening of QRS waves (Figure 3A). The dermis thickness on the patient’s neck and back was measured using ultrasonography. The thickness of the dermis was measured in the thickest area and the normal area for comparison, and it was discovered that the skin on the neck and back (8–10 mm) was considerably thicker and more echogenic than the typical skin around the waist (4 mm) (Figure 3B). A transthoracic echocardiogram (Figure 4A) on admission showed an enlarged left heart, left ventricular end-diastolic internal diameter of 65mm, left ventricular end-diastolic volume of 220ml, left ventricular hypertrophy, left ventricular posterior wall thickness of 12mm, septal thickness of 12mm, left ventricular apical appendage thrombus formation (2.1*1.5 cm), and severely reduced overall left ventricular function (EF 30%). Coronary computed tomography angiography (CTA) revealed no significant abnormalities in the coronary vessels but indeed revealed an enlarged whole heart and left ventricular myocardial hypertrophy (ranging from 14mm to 18mm thick). Cardiac magnetic resonance imaging (CMRI) showed thrombosis in the left ventricular apical region and left heart insufficiency, considering metabolic cardiomyopathy with delayed enhancement of the inner apical septum and inferior lateral wall with flocculent patches (Figure 5). Skin biopsy of the back demonstrates thickening of the dermis and enlargement of the intra-dermal collagen fiber gap, along with alcian blue staining positive deposits between the swollen collagen fibers, which was consistent with the diagnosis of scleredema (Figure 6A,6B).
Treatment was initiated concurrently after the required tests. Low molecular weight heparin (LMWH) was injected subcutaneously to treat the patient’s left ventricular thrombosis, rosuvastatin calcium tablets and alirocumab were administered to lower lipids, along with sacubitril valsartan sodium tablets, spironolactone, and furosemide tablets to improve cardiac function and diuretic therapy. Dapagliflozin and metformin hydrochloride tablets were used to decrease blood sugar levels, and metoprolol tartrate tablets to regulate blood pressure and control ventricular rate. Uremic clearance granules, Bailing capsules, and Shenkang injection were used to protect the kidney, and febuxostat to lower uric acid.