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American Journal of Cardiovascular... 2023Sarcoidosis and systemic sclerosis are two inflammatory multisystemic disorders of unknown etiology that may be life-threatening especially when there is cardiac...
Sarcoidosis and systemic sclerosis are two inflammatory multisystemic disorders of unknown etiology that may be life-threatening especially when there is cardiac involvement. Both diseases may coexist, however, there are very few case reports of patients with both cardiac sarcoidosis and systemic sclerosis in the literature. We report the case of a 72-year-old female who was initially referred for dyspnea. A chest computed tomography scan showed multiple hilar and mediastinal adenopathy with a non-specific opacity in the middle pulmonary lobe. FDG-PET-scan showed increased FDG uptake in the adenopathy, the middle lobe and the right ventricular free wall. Sarcoidosis was confirmed with a lung biopsy. Both electrocardiogram and echocardiogram were normal. Four months later, the patient developed a high-grade atrioventricular block deemed secondary to her cardiac sarcoidosis. Two years later, the patient was referred to a rheumatologist for severe Raynaud's symptoms, sclerodactyly and acrocyanosis. After thorough investigations, a diagnosis of limited cutaneous systemic sclerosis with systemic and cardiac sarcoidosis was made. This case demonstrates that both cardiac sarcoidosis and systemic sclerosis may coexist. In the literature, either disease may come first. In cases where cardiac symptoms appear after the diagnosis of concomitant sarcoidosis and systemic sclerosis, it might be difficult for clinicians to confirm which disease is responsible for the heart involvement. This is important since early cardiac sarcoidosis treatment should be done to prevent major complications and may well differ from systemic sclerosis treatment. In this review, we discuss the main clinical manifestations and imaging findings seen with cardiac disease secondary to sarcoidosis and systemic sclerosis.
PubMed: 37736350
DOI: No ID Found -
Clinical Autonomic Research : Official... Dec 2021In neuropathic postural tachycardia syndrome, peripheral sympathetic dysfunction leads to excessive venous blood pooling during orthostasis. Up to 84% of patients report...
PURPOSE
In neuropathic postural tachycardia syndrome, peripheral sympathetic dysfunction leads to excessive venous blood pooling during orthostasis. Up to 84% of patients report leg pain and weakness in the upright position. To explore possible pathophysiological processes underlying these symptoms, the present study examined muscle excitability depending on body position in patients with neuropathic postural tachycardia syndrome and healthy subjects.
METHODS
In ten patients with neuropathic postural tachycardia syndrome and ten healthy subjects, muscle excitability measurements were performed repeatedly: in the supine position, during 10 min of head-up tilt and during 6 min thereafter. Additionally, lower leg circumference was measured and subjective leg pain levels were assessed.
RESULTS
In patients with neuropathic postural tachycardia syndrome, muscle excitability was increased in the supine position, decreased progressively during tilt, continued to decrease after being returned to the supine position, and did not completely recover to baseline values after 6 min of supine rest. The reduction in muscle excitability during tilt was paralleled by an increase in lower leg circumference as well as leg pain levels. No such changes were observed in healthy subjects.
CONCLUSIONS
This study provides evidence for the occurrence of orthostatic changes in muscle excitability in patients with neuropathic postural tachycardia syndrome and that these may be associated with inadequate perfusion of the lower extremities. Insufficient perfusion as a consequence of blood stasis may cause misery perfusion of the muscles, which could explain the occurrence of orthostatic leg pain in neuropathic postural tachycardia syndrome.
Topics: Heart Rate; Humans; Leg; Muscles; Pain; Postural Orthostatic Tachycardia Syndrome; Tachycardia; Tilt-Table Test
PubMed: 34674068
DOI: 10.1007/s10286-021-00830-5 -
The Kaohsiung Journal of Medical... Dec 2022
Topics: Humans; COVID-19; COVID-19 Vaccines; Lupus Erythematosus, Systemic; Vaccination
PubMed: 36448713
DOI: 10.1002/kjm2.12630 -
Journal of Otolaryngology - Head & Neck... Oct 2019Cold agglutinin disease (CAD) is a rare condition leading to blood agglutination and autoimmune hemolytic anemia. Cutaneous ischemia resulting from CAD in the head and... (Review)
Review
Cold agglutinin disease (CAD) is a rare condition leading to blood agglutination and autoimmune hemolytic anemia. Cutaneous ischemia resulting from CAD in the head and neck is uncommon. Treatment regimens and outcomes vary widely in the literature and no clear protocol exists. This manuscript describes a patient with CAD who developed severe ischemia of the nose that resolved completely without sequellae following a medical regimen of aspirin, low molecular weight heparin, nitroglycerin ointment and hyperbaric oxygen therapy (HBOT). To our knowledge, this is the first reported case where nitroglycerin ointment or HBOT was successfully employed in the treatment of this complication.
Topics: Administration, Topical; Aged, 80 and over; Anemia, Hemolytic, Autoimmune; Anticoagulants; Combined Modality Therapy; Enoxaparin; Female; Humans; Hyperbaric Oxygenation; Ischemia; Nitroglycerin; Nose; Ointments; Vasodilator Agents
PubMed: 31640785
DOI: 10.1186/s40463-019-0369-0 -
Case Reports in Pediatrics 2019Neonatal acute myocardial infarction is an uncommon entity. We describe the case of a 4-day-old term baby who presented with respiratory distress and distal...
Neonatal acute myocardial infarction is an uncommon entity. We describe the case of a 4-day-old term baby who presented with respiratory distress and distal acrocyanosis. The chest radiograph demonstrated cardiomegaly without pleural effusion, and examination revealed hepatomegaly. An electrocardiogram revealed QS pattern in leads I, aVL, and V6, suggestive of ischemia. Cardiac enzymes were elevated, and echocardiogram revealed moderate left ventricular dysfunction with a thrombus at the level of the left atrial appendage. The patient required hemodynamic stabilization, vasodilatation to avoid congestive heart failure, and anticoagulation with heparin and aspirin. In the context of this unusual diagnosis, we reviewed our experience over the last 17 years as well as the existing literature on neonatal myocardial infarction.
PubMed: 31772807
DOI: 10.1155/2019/7203407 -
International Journal of... 2021Hypercoagulability is a risk factor of thromboembolic events in COVID-19. Anti-phospholipid (aPL) antibodies have been hypothesized to be involved. Typical COVID-19...
BACKGROUND
Hypercoagulability is a risk factor of thromboembolic events in COVID-19. Anti-phospholipid (aPL) antibodies have been hypothesized to be involved. Typical COVID-19 dermatological manifestations of livedo reticularis and digital ischemia may resemble cutaneous manifestations of anti-phospholipid syndrome (APS).
OBJECTIVES
To investigate the association between aPL antibodies and thromboembolic events, COVID-19 severity, mortality, and cutaneous manifestations in patients with COVID-19.
METHODS
aPL antibodies [anti-beta2-glycoprotein-1 (B2GP1) and anti-cardiolipin (aCL) antibodies] were titered in frozen serum samples from hospitalized COVID-19 patients and the patients' clinical records were retrospectively analyzed.
RESULTS
173 patients were enrolled. aPL antibodies were detected in 34.7% of patients, anti-B2GP1 antibodies in 30.1%, and aCL antibodies in 10.4%. Double positivity was observed in 5.2% of patients. Thromboembolic events occurred in 9.8% of patients, including 11 pulmonary embolisms, 1 case of celiac tripod thrombosis, and six arterial ischemic events affecting the cerebral, celiac, splenic, or femoral-popliteal arteries or the aorta. aPL antibodies were found in 52.9% of patients with vascular events, but thromboembolic events were not correlated to aPL antibodies (adjusted OR = 1.69, = 0.502). Ten patients (5.8%) had cutaneous signs of vasculopathy: nine livedo reticularis and one acrocyanosis. No significant association was observed between the presence of cutaneous vasculopathy and aPL antibodies ( = 0.692).
CONCLUSIONS
Anti-phospholipid antibodies cannot be considered responsible for hypercoagulability and thrombotic events in COVID-19 patients. In COVID-19 patients, livedo reticularis and acrocyanosis do not appear to be cutaneous manifestations of APS.
Topics: Adult; Aged; Aged, 80 and over; Antibodies, Anticardiolipin; Antibodies, Antiphospholipid; COVID-19; Female; Hospitalization; Humans; Italy; Male; Middle Aged; Retrospective Studies; SARS-CoV-2; Seroepidemiologic Studies; Skin Diseases; Vascular Diseases; beta 2-Glycoprotein I
PubMed: 34541915
DOI: 10.1177/20587384211042115 -
SAGE Open Medical Case Reports 2023A female in her 60s presented to the allergy and immunology clinic for further investigation of ongoing dermatitis. She presented with chronic acrocyanosis, mainly in...
A female in her 60s presented to the allergy and immunology clinic for further investigation of ongoing dermatitis. She presented with chronic acrocyanosis, mainly in her left lower extremity, extending distally from her mid thigh with concurrent ulcerations in her foot resulting in immobility secondary to pain. She experienced these symptoms for years without a definitive diagnosis. The lack of diagnosis was due, in part, to her atypical symptoms and laboratory findings that required a high level of clinical suspicion to diagnose. Extensive autoimmune workup was largely unrevealing with the exception of a cold agglutinin titer of 1:250 and a positive anticomplement C3b direct antiglobulin test. A diagnosis of cold agglutinin disease was made and treatment with rituximab monotherapy was initiated.
PubMed: 37654547
DOI: 10.1177/2050313X231191899 -
Case Reports in Vascular Medicine 2020Myeloproliferative neoplasms are a heterogeneous group of disorders resulting from the abnormal proliferation of one or more terminal myeloid cells-established...
BACKGROUND
Myeloproliferative neoplasms are a heterogeneous group of disorders resulting from the abnormal proliferation of one or more terminal myeloid cells-established complications include thrombosis and haemorrhagic events; however, there is limited evidence to suggest an association with arterial hypertension. Herein, we report two independent cases of severe hypertension in JAK2 mutation-positive myeloproliferative neoplasms. . Case 1: a 39-year-old male was referred to our specialist hypertension unit with high blood pressure (BP) (200/120 mmHg), erythromelalgia, and headaches. We recorded elevated serum creatinine levels (146 M) and panmyelosis. Bone marrow biopsy confirmed JAK2-mutation-positive polycythaemia vera. Renal imaging revealed renal artery stenosis. Aspirin, long-acting nifedipine, interferon-alpha 2A, and renal artery angioplasty were employed in management. BP reached below target levels to an average of 119/88 mmHg. Renal parameters normalised gradually alongside BP. Case 2: a 45-year-old male presented with high BP (208/131 mmHg), acrocyanosis, (vasculitic) skin rashes, and nonhealing ulcers. Fundoscopy showed optic disc blurring in the left eye and full blood count revealed thrombocytosis. Bone marrow biopsy confirmed JAK2-mutation-positive essential thrombocytosis. No renal artery stenosis was found. Cardiac output was measured at 5 L/min using an inert gas rebreathing method, providing an estimated peripheral vascular resistance of 1840 dynes/s/cm. BP was well-controlled (reaching 130/70 mmHg) with CCBs.
CONCLUSIONS
These presentations highlight the utility of full blood count analysis in patients with severe hypertension. Hyperviscosity and constitutive JAK-STAT activation are amongst the proposed pathophysiology linking myeloproliferative neoplasms and hypertension. Further experimental and clinical research is necessary to identify and understand possible interactions between BP and myeloproliferative neoplasms.
PubMed: 33505762
DOI: 10.1155/2020/8887423 -
The International Journal of Lower... Sep 2023Waldenstrom macroglobulinemia (WM), a rare malignant disorder, occurs as a result of abnormal proliferation of lymphocytes that produce immunoglobulin M. In rare cases,...
Waldenstrom macroglobulinemia (WM), a rare malignant disorder, occurs as a result of abnormal proliferation of lymphocytes that produce immunoglobulin M. In rare cases, WM complicates by type I cryoglobulinemia. Type I cryoglobulinemia usually presents with cutaneous manifestations such as Raynaud's phenomenon, purpura, necrosis, and gangrene. Various medical conditions, including thrombotic events, rheumatologic disorders, and malignancies, may present with skin discoloration and necrosis. Patients suffering from malignant diseases who initially present with skin manifestations usually are misdiagnosed by physicians. Here, we describe a 72-year-old man presenting with a 6-month acrocyanosis and progressive skin necrosis who was misdiagnosed by physicians. Finally, he was diagnosed to have WM associated with type I cryoglobulinemia. Though uncommon, hematologic malignancies can present with cutaneous manifestations. In some cases, patients may manifest with skin disorders alone. Early and prompt treatment of these diseases may save the patient life, relieve patient symptoms, and increase life quality.
Topics: Male; Humans; Aged; Waldenstrom Macroglobulinemia; Cryoglobulinemia; Skin Diseases
PubMed: 34166124
DOI: 10.1177/15347346211026994 -
American Journal of Medical Genetics.... Jun 2023Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1 leading to progressive encephalopathy, hypotonia...
Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1 leading to progressive encephalopathy, hypotonia evolving to dystonia, petechiae, orthostatic acrocyanosis, diarrhea, and elevated ethylmalonic acid in urine. In this case report, we describe a patient with only mild speech and gross motor delays, subtle biochemical abnormalities, and normal brain imaging found to be homozygous for a pathogenic ETHE1 variant (c.586G>A) via whole exome sequencing. This case highlights the clinical heterogeneity of ETHE1 mutations and the utility of whole-exome sequencing in diagnosing mild cases of EE.
Topics: Humans; Brain Diseases, Metabolic, Inborn; Purpura; Brain; Brain Diseases; Mitochondrial Proteins; Nucleocytoplasmic Transport Proteins
PubMed: 36891747
DOI: 10.1002/ajmg.a.63176