Relapsing polychondritis associated with heart block.

OBJECTIVE: The present article aims at describing a rare case of an RP patient who evolved with heart block and was successfully treated with corticoid pulse therapy, without the need for pacemaker insertion. PATIENTS AND METHODS: A systematic research on relapsing polychondritis (RP) and heart block (HB) published in PubMed/MEDLINE, Web of Sciences, LILACS, and Scielo from 1966 to August 2020 was performed. RESULTS: It was found 10 studies on RP associated with HB, and we added a case. Most were male (7/10) with ages 30 to 66 years old. RP disease duration was 1 week-6 years. In most cases (7/10), the RP was active when the HB occurred. A complete HB was observed in 4/7, followed by type II degree block in 3/7, and one patient had a sinus node dysfunction. Most patients received glucocorticoids. A pacemaker was inserted in 4/9 cases. Good outcome was observed in 3/9 patients and mortality in 2/10. CONCLUSIONS: We report the first case of an RP patient who had a heart block and was successfully treated with methylprednisolone pulse therapy. The authors suggest that in these RP cases, an attempt with a glucocorticoid pulse therapy may be offered to treat the heart block and prevent the insertion of a pacemaker.

Negativization of antinuclear, anti-dsDNA, and anti-chromatin antibodies after vitamin D supplementation in a lupus patient.

BACKGROUND: A previous study have evaluated that antinuclear antibodies (ANA) negativization is linked to low lupus disease activity. AIM: To describe a lupus patient who evolved with negativization of ANA, anti-dsDNA, and anti-chromatin antibodies after vitamin D supplementation. METHOD: Case report. RESULTS: A 56-year-old female patient, diagnosed with systemic lupus erythematosus since 2015 characterized by typical malar erythema, photosensitivity, polyarthritis, leucopenia, positive antinuclear antibody, anti-dsDNA, and anti-chromatin antibody. She received hydroxychloroquine and prednisone. After 1 year, corticotherapy was tapered off, and no clinical evidence of lupus activity was registered (SLEDAI = 0). However, ANA remained positive with a titer of 1:640 with a homogeneous pattern, and positive anti-dsDNA 1/20 and anti-chromatin 97 Units (normal range: <20 Units) remained all-time positive. Treatment with vitamin D 25,000 IU/day was initiated, and during follow-up, anti-chromatin and anti-dsDNA disappeared. In 2019, the patient was asymptomatic, keeping SLEDAI = 0, negative anti-dsDNA and anti-chromatin, and surprisingly the ANA turned negative, which was confirmed on several occasions until now. CONCLUSION: This case adds knowledge to the understanding that negative antinuclear antibodies appear to be associated with a better prognosis in lupus patients. Furthermore, the use of vitamin D seems to be a complementary therapeutic tool for this purpose.

Vitamin D Supplementation Seems to Improve Fibromyalgia Symptoms: Preliminary Results.

BACKGROUND: Vitamin D deficiency and insufficiency have been reported in fibromyalgia. However, to the best of our knowledge, only one study has evaluated the role of 25-hydroxyvitamin D [25(OH)D] supplementation on fibromyalgia symptoms. OBJECTIVES: To analyze the effects of 3 months of 25(OH)D supplementation on symptoms of fibromyalgia. METHODS: This study included 11 female patient. Demographic and clinical data, tender points, visual analog scale results, and pre- and post-serum levels of 25(OH)D supplementation were analyzed. The levels of 25(OH)D were measured by a radioimmunologic test. RESULTS: Patients with fibromyalgia diagnosis and 25(OH)D values ≤ 30 ng/ml were recruited to receive 50,000 IU of oral vitamin D once every week for 3 months. The disease was diagnosed based on the American College of Rheumatology criteria. The median age of all patients was 48.5 (28-67) years and 63.4% were Caucasian. Disease duration varied from 1-10 years. The 25(OH)D levels increased significantly after 3 months, 18.4 (15.5-25.8) ng/ml vs. 33.8 (28-58) ng/ml, P = 0.01. Interestingly, an improvement of visual analog scale scores was observed at 3 months, 90 (0-100) vs. 30 (0-80), P = 0.002. Eight patients (72.2%) responded that they experienced a very significant improvement in symptoms. In addition, a trend for reduction of the number of tender points was observed after 3 months, 17 (11-18) vs. 10 (0-18), P = 0.07. CONCLUSIONS: The 25(OH)D levels and disease symptoms in patients with fibromyalgia and vitamin D deficiency/insufficiency seem to improve with vitamin D supplementation.

Frequency of psychological alterations in primary antiphospholipid syndrome: preliminary study.

Objectives To detect the frequency of psychological alterations in primary antiphospholipid syndrome patients. Methods Thirty-six primary antiphospholipid syndrome patients were analyzed by a psychological interview using a standard protocol and review of medical charts. Clinical manifestations, associated comorbidities, antiphospholipid antibodies, and treatment were also evaluated. Results The mean age was 44.2 ± 10.8 years, 29 (80%) were women and 29 (80%) were of Caucasian race. The mean duration of disease was 7.3 ± 5.2 years. The frequency of the presence of psychological alterations was 97.1%. Family dependence was observed in 14 (40%), memory loss in 12 (34.3%), social losses in 12 (34.3%), sexual limitations in seven (20%), sadness in six (17.1%), severe speech limitation in four (11.4%), anxiety in three (8.6%), learning difficulty in two (5.7%), generalized phobia in two (5.7%), suicide ideation in one (2.6%), agoraphobia in one (2.6%), and obsessive-compulsive disorder in one (2.6%). Conclusion This study demonstrated that almost all primary antiphospholipid syndrome patients have psychological alterations. These data reinforce the need for psychological evaluation in primary antiphospholipid syndrome patients.

Moderate/severe erectile dysfunction in patients with antiphospholipid syndrome.

PURPOSE: To evaluate sexual function of antiphospholipid syndrome (APS) patients using the Brazilian version of the validated International Index of Erectile Function (IIEF). MATERIALS AND METHODS: Eleven APS male patients (Sapporo criteria) were age and race-matched with 22 healthy controls. Demographic and clinical data, drug use and antiphospholipid antibodies were evaluated. The IIEF was also self-applied. RESULTS: Mean age (p = 0.114), frequency of Caucasian race (p = 1.00) and married status (p = 0.438) were similar in APS and controls. Mean disease duration was 8.8 ± 4.6 years. Erectile dysfunction (ED) was frequently observed in APS versus controls (45.5 vs. 4.5%, p = 0.0096), especially moderate/severe ED (p = 0.0081). The total IIEF score (49.6 vs. 67.1, p = 0.019), erectile function (19.6 vs. 28.1, p = 0.005) and intercourse satisfaction (7.8 vs. 11.9, p = 0.009) were lower in patients than in controls. No differences were seen in orgasmic function (p = 0.114), sexual desire (p = 0.123) or overall satisfaction (p = 0.097) between the groups. The comparison between APS patients with ED (n = 5) and without ED (n = 6) revealed more arterial events in APS with ED (100 vs. 16.7%, p = 0.0152), and also longer disease duration (12 [7-16] vs. 5.5 [2-13] years, p = 0.031). A trend towards lower venous events (20 vs. 83.3%, p = 0.0801) and higher renal thrombotic microangiopathy (60% vs. 0, p = 0.0606) was observed in APS patients with ED. Demographics, clinical manifestations, smoking and antiphospholipid antibodies positivity were similar in both groups. CONCLUSION: To our knowledge, this was the first study that demonstrated moderate/severe ED in almost 50% of cases of a rare autoimmune disease. This alteration was linked to arterial events and longer disease duration.

Fibromyalgia in primary antiphospholipid (Hughes) syndrome.

Fibromyalgia (FM) is a syndrome that can be associated with several rheumatic diseases. However, no study has evaluated its frequency in patients with primary antiphospholipid syndrome (PAPS). The objective of this study was to analyze the frequency of FM in PAPS patients compared with healthy controls, to determine the possible associations between FM and PAPS features, and also to evaluate quality of life and depression in these patients. This case-control study included 30 PAPS patients (by the Sapporo criteria) and 40 healthy subjects. Demographic and clinical data, drug use, and antiphospholipid antibodies were analyzed. FM was diagnosed based on international criteria (ACR). Questionnaires on quality of life, including the Short Form 36 Health Survey (SF-36), Beck Depression Inventory (BDI), Fibromyalgia Impact Questionnaire (FIQ), and Visual Analog Scale (VAS), were also applied. PAPS patients and controls were similar in mean age as well as in distributions of gender and Caucasian race. Mean disease duration was 5.4 ± 4.2 years. A diagnosis of fibromyalgia was made in five (16.7%) PAPS patients and no controls (p = 0.012). PAPS patients had more diffuse pain (53% vs. 0%, respectively, p < 0.0001), ≥11 tender points (23% vs. 5%, respectively, p = 0.032), and a greater total number (175 vs. 57, respectively, p < 0.0001) as well as median number of tender points per patient than controls (5 [0-18] vs. 0 [0-11], respectively, p < 0.0001). PAPS patients had lower values in all dimensions of the SF-36, as well as higher FIQ scores, higher BDI scores, more depression diagnoses according to BDI results, and increased VAS in comparison with controls. Analysis of PAPS patients with FM compared with those subjects without FM revealed no significant differences regarding demographic features or thrombotic or clinical events; however, PAPS patients who also had FM had lower values in SF-36 dimensions as well as higher FIQ (82.6 ± 9.6 vs. 33.6 ± 29.8, respectively, p < 0.0001) and VAS scores (6.6 ± 2.97 vs. 3.25 ± 3.11, respectively, p = 0.03). BDI scores, in contrast, were similar in both groups. In conclusion, one-fifth of PAPS patients had fibromyalgia and a low quality of life when compared with healthy subjects.

Severe hemorrhagic corpus luteum complicating anticoagulation in antiphospholipid syndrome.

Antiphospholipid syndrome (APS) is a disorder of coagulation that causes thrombosis as well as pregnancy-related complications, occurring due to the autoimmune production of antibodies against phospholipid. Full anticoagulation is the cornerstone therapy in patients with thrombosis history, and this can lead to major bleeding. During a 3-year period, 300 primary and secondary APS patients were followed up at the Rheumatology Division of the authors' University Hospital. Of them, 255 (85%) were women and 180 (60%) were of reproductive age. Three of them (1%) had severe hemorrhagic corpus luteum while receiving long-term anticoagulation treatment and are described in this report. All of them were taking warfarin, had elevated international normalized ratio (>4.0) and required prompt blood transfusion and emergency surgery. Therefore, we strongly recommend that all women with APS under anticoagulation should have ovulation suppressed with either intramuscular depot-medroxyprogesterone acetate or oral desogestrel.

Severe and refractory myositis in mixed connective tissue disease: a description of a rare case.

Mixed connective tissue disease (MCTD) is a rare disease that includes clinical and laboratorial manifestations of systemic lupus erythematosus, scleroderma and polymyositis that is associated with high titers of anti-U1RNP antibodies. In general, muscle involvement is subclinical, usually appearing as an increase in muscle enzyme levels that tends to be a characteristic of the initial phases of the disease. Severe clinical muscle weakness is not observed in this disease. The objective of this study is to report a rare case of a patient who presented a severe onset of myositis characterized by dysphagia, an increase in myopathy and a weakening of the cervical musculature. While there was no response to the administration of an initial dose of corticosteroids, improvement was observed after increasing the dose of corticosteroids, in addition to the initiation of pulse therapy with methylprednisolone accompanied by methotrexate treatment. The authors emphasize that there is only one previously reported case regarding a child with MCTD and severe clinical myopathy on electromyography and muscle biopsy, and they report in this article one adult female patient who presented severe myositis and was refractive to corticotherapy.

Juvenile-onset Takayasu arteritis: peculiar vascular involvement and more refractory disease.

OBJECTIVES: To compare prognosis parameters and arterial site involvement in Takayasu arteritis (TA) patients with disease onset at age ≤ 18 and ≥ 21 years. METHODS: Sixty-two TA patients [American College of Rheumatology (ACR) and European League Against Rheumatism/Paediatric Rheumatology European Society (EULAR/PreS) criteria] were enrolled consecutively and divided into two groups according to disease onset, and matched for disease duration: juvenile TA patients aged ≤ 18 years (n = 17) and adult TA patients aged ≥ 21 years (n = 45). The protocol evaluated the following prognostic factors: aortic insufficiency, ischaemic retinopathy, severe systemic hypertension, and arterial aneurysms. In addition, death and remission [defined as stable disease > 6 months (no complaints without immunosuppressive and prednisone use) and normal erythrocyte sedimentation rate (ESR)] were also analysed. Stenosis and aneurisms were investigated by magnetic angioresonance or arteriography and angiographic classification was defined according to Hata criteria. RESULTS: Mean disease duration was similar in the juvenile and adult TA groups (13.50 ± 10.73 vs. 13.80 ± 7.17 years, p = 0.092) and a trend to a lower predominance of female gender in the juvenile TA group was observed (64.71% vs. 88.89%, p = 0.056). The prognosis was distinct in the two groups, with juvenile patients having a lower frequency of disease remission (23.53% vs. 55.56%, p = 0.04) and a significantly higher frequency of aneurism (41.0% vs. 11.1%, p = 0.013). Almost half of the juvenile TA patients had left renal stenosis, a frequency significantly higher than in the adult TA group (41.18% vs. 11.10%, p = 0.013), whereas the stenosis frequency was comparable in all other vascular sites evaluated. No differences were observed between the two groups regarding the frequency of aortic insufficiency, ischaemic retinopathy, severe systemic arterial hypertension, vascular procedures, and mortality. Angiographic classification revealed a similar distribution of arterial involvement in both groups (p > 0.05). CONCLUSIONS: Juvenile TA patients have distinct characteristics, with a peculiar renal vascular involvement, the presence of aneurism, and a more refractory disease compared with adult TA patients.

Peripheral neuropathy in patients with primary antiphospholipid (Hughes') syndrome.

The involvement of the peripheral nervous system in diverse autoimmune diseases is well established. However, no appropriately designed studies have been performed in primary antiphospholipid syndrome (PAPS)-related peripheral neuropathy. We aimed to investigate the occurrence of peripheral neuropathy in patients diagnosed with PAPS. Twenty-six consecutive patients with PAPS (Sapporo criteria) and 20 age- and gender-matched healthy controls were enrolled at two referral centers. Exclusion criteria were secondary causes of peripheral neuropathy. A complete clinical neurologic exam followed by nerve conduction studies (NCS) was performed. Paresthesias were reported in eight patients (31%). Objective mild distal weakness and abnormal symmetric deep tendon reflexes were observed in three patients (11.5%). With regard to the electrophysiologic evidence of peripheral neuropathy, nine patients (35.0%) had alterations: four (15.5%) had pure sensory or sensorimotor distal axonal neuropathy (in two of them a carpal tunnel syndrome was also present) and one (4%) had sensorimotor demyelinating and axonal neuropathy involving upper and lower extremities, while four patients (15.5%) showed isolated carpal tunnel syndrome. Clinical and serologic results were similar in all the patients with PAPS, regardless of the presence of electrophysiologic alterations. In conclusion, peripheral neuropathy is a common asymptomatic abnormality in patients with PAPS. The routine performance of NCS may be considered when evaluating such patients.