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Ethylmalonic encephalopathy
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Manifestations of vascular abnormality (Figures 102.2, 102.3, 102.5–102.9, 102.11, 102.12) are typical in this disease [5–8], and these features are quite unique among metabolic disorders. Acrocyanosis (Figures 102.5) may be the mildest manifestation and it may be associated with edema of the extremities. Patients also have episodic showers of petechiae, often associated with infection. One of our patients (Figure 102.2) was originally investigated for meningococcemia before referral to us. There may also be ecchymoses (Figures 102.7 and 102.9) or hemorrhagic streaks (Figures 102.8). Ethylmalonic encephalopathy may masquerade as a hematologic disorder and our index patient (Figure 102.9) suffered from progressive pancytopenia (Figure 102.10), in addition to progressive psychomotor retardation. She presented at birth with severe thrombocytopenia unresponsive to cortisone or immunoglobulins [5]. From the second year of life, the patient needed an increasing number of transfusions of platelets and red blood cells. She gradually developed hypersensitivity against HLA identical thrombocytes and finally died in a cardiovascular arrest secondary to severe anemia. In another patient, leukocytosis and thrombocytosis were prominent [10].
Erythemas
Published in Aimilios Lallas, Enzo Errichetti, Dimitrios Ioannides, Dermoscopy in General Dermatology, 2018
Nicola di Meo, Paola Corneli, Iris Zalaudek
Acrocyanosis is a persistent cyanotic or erythrocyanotic mottled discoloration of acral areas, i.e., hands and, less frequently, feet and face, which is triggered by cold exposure and related to vasospasm of small cutaneous arterioles and secondary consequent dilatation of subpapillary venous plexus.6 Such a condition may be idiopathic or secondary to several systemic diseases, including autoimmune diseases, tumors, cryoglobulinaemia, etc.6
Arterial disorders
Published in Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie, Bailey & Love's Short Practice of Surgery, 2018
Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie
Acrocyanosis may be confused with Raynaud’s disease but it is painless and not episodic. It tends to affect young women and the mottled cyanosis of the fingers and/or toes may be accompanied by paraesthesia and chilblains.
Monoclonal antibodies for treatment of cold agglutinin disease
Published in Expert Opinion on Biological Therapy, 2023
Georg Gelbenegger, Sigbjørn Berentsen, Bernd Jilma
In CAD, monoclonal autoantibodies (cold agglutinins), typically of the IgM kappa class, bind to cell surface antigens on red blood cells (RBCs) at a specific temperature range (below or up to 37°C). The thermal amplitude reflects the highest temperature at which the cold agglutinin binds to its antigen [14], and cold agglutinin activity (titer) is expressed as the inverse value of the highest serum dilution at which RBC agglutination can be detected [15]. Most cold agglutinins have a specificity for the I antigen on RBCs [16], and multiple regions within immunoglobulin heavy chains and immunoglobulin light chains contribute to I antigen binding, which may influence the clinical phenotype [17,18]. The pentameric structure and large molecular size of IgM autoantibodies allow for agglutination of RBCs [19,20], leading to peripheral (mostly acral) blood vessel occlusion and circulatory symptoms, such as acrocyanosis, Raynaud-like phenomena, and, rarely, gangrene [10,13]. Atypical dermatologic features include livedo reticularis and livedo racemosa [21–23]. Patients with CAD may also have a higher risk of thromboembolism and early death [24]. Notably, mortality in CAD shows a seasonal pattern [25]. At least one thromboembolic event occurs in almost a third of CAD patients [26]. Circulatory symptoms are usually reversible as RBC agglutinates disaggregate when re-exposed to higher temperatures. Notably, the degree of acrocyanosis does not correlate with the severity of anemia [12].
Healthcare resource utilization among commercially insured patients with cold agglutinin disease in the United States
Published in Journal of Medical Economics, 2020
Jun Su, Lauren C. Bylsma, Xiaohui Jiang, Jaime Morales Arias, Nisha Jain, Robert J. Nordyke
Cold agglutinin disease (CAD) is a rare chronic subtype of autoimmune hemolytic anemia with an estimated prevalence of 16 cases per 1 million individuals1. CAD is mediated by complement-fixing autoantibodies, which bind to the I antigen on the surface of red blood cells2. Termed cold agglutinins, these monoclonal immunoglobulin M antibodies are most pathogenic when their thermal amplitude (the highest temperature at which they bind to red blood cell antigens) overlaps with vascular temperatures at the lower limit of normal3. When bound to red blood cells, cold agglutinins activate complement component 1 (C1 complex) and trigger the classical complement pathway, resulting in extravascular hemolysis and, to a lesser extent, intravascular hemolysis2,4,5. CAD typically affects middle-aged and elderly individuals and is slightly more frequent among females than males4. Clinical manifestations include anemia and debilitating fatigue as well as cold-induced circulatory symptoms such as Raynaud’s phenomenon and acrocyanosis4,6. CAD may be primary, in which it is considered a clonal lymphoproliferative disorder, or it may be secondary to an underlying disease (recently termed cold agglutinin syndrome in the literature), such as aggressive lymphoma, the Epstein–Barr virus infection, or Mycoplasma pneumoniae infection5,6.
Pulmonary arteriovenous malformation revealed by a chronic cyanosis
Published in Acta Cardiologica, 2019
Martial M. Massin, Marc Laureys, Nasroolla Damry
An eight-year-old female presented with a history of intermittent acrocyanosis and progressive effort dyspnoea. Family and personal history was otherwise uneventful. Clinical examination showed central cyanosis and oxygen saturation was 80%. Echocardiogram was normal. Chest X-ray showed opacities in the right lower and upper lobes (Figure 1(A)). Chest computed tomography revealed major pulmonary arteriovenous malformations in the right lung (Figure 2) and minor lesions in the left lung. The patient did not fulfil the Curaçao criteria for hereditary haemorrhagic telangiectasia but the disease was confirmed by genetic analysis which revealed a mutation in endoglin, a major gene encoding endothelial surface proteins. Coils were used for the embolisation of the main lesions (Figure 1(B)) and oxygen saturation improved to 96%. Three years later, oxygen saturation was 90% and control CT showed partial reperfusion of the same lesions that required a second procedure.