Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy

N.A. Polyanskaya1, A.A. Gorbunova2, E.B. Pavlinova1, O.A. Savchenko1, I.A. Kirshina1, M.E. Bagaeva3,4, T.V. Strokova3,4 1Omsk State Medical University, Omsk, Russian Federation 2Regional Children’s Clinical Hospital, Omsk, Russian Federation 3Federal Research Center for Nutrition and Biotechnology, Moscow, Russian Federation 4Pirogov Russian National Research Medical University, Moscow, Russian Federation Aim: to present the treatment results and the trend of clinical and biochemical parameters in two patients with lysosomal acid lipase deficiency (LALD) during enzyme replacement therapy (ERT). The reasons for the in-depth study of patients were the periorbital "shadows of intoxication" (hyperpigmentation), an increase in the liver and spleen sizes, revealed during medical examination, as well as the long-term subfebrility. Nonspecific clinical disease manifestations required an extended diagnostic search. LALD diagnosis, confirmed by the molecular genetic study results, was made at the age of 7 and 12 years. In both clinical cases, the prescription of pathogenetically based therapy provided positive trend in the form of improvement in physical development, reduction in the liver and spleen sizes, and persistent relief of hepatic cytolysis. The article considers the difficulties that a medical practitioner may face when monitoring patients with LALD receiving pathogenet ic therapy. Special attention is paid to the possible causes of insufficiently effective reduction of cholesterol levels during ERT. The article also notes the importance of timely diagnosis of LALD, characterized by continuous pathological storage of cholesteryl esters in lysosomes, which is associated with the risk of irreversible lesions of organs and tissues. Keywords: children, Lysosomal acid lipase deficiency, cholesteryl ester storage disease, dyslipidemia, cytolysis, sebelipase alfa, enzyme replacement therapy. For citation: Polyanskaya N.A., Gorbunova A.A., Pavlinova E.B. et al. Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy. Russian Journal of Woman and Child Health. 2022;5(3):270–276 (in Russ.). DOI: 10.32364/2618-8430-2022-5-3-270-276. </p

MALT-lymphomas in Sjogren's disease

Aim. To develop algorithm of early diagnosis of extranodal lymphoma arising in patients with Sjorgen's disease (SD). Material and methods. SD diagnosis was made in 457 patients treated in Rheumatology Institute clinic in 1999-2004, 38 (8.3%) females aged 19-82 had lymphoproliferative diseases. MAL T-lymphomas were diagnosed in 15 (42.2%) patients. All the patients have undergone morphological, immunomorphological investigations of the salivary glands, postoperative material was analysed in some patients. In addition, the following investigations were made: ultrasonography of the salivary glands, lymph nodes, viscera; scintigraphy; trephine biopsy of the bone marrow; myelograms; CT of the chest, abdomena and brain; tests for monoclonal immunoglobulins in the serum and light chains in urine, biopsy of the parotid gland. Clinical, morphological and immunophenotypical characteristics of MALT-lymphomas were assessed by WHO classification. Lymphoma stages were classified according to Ann Arbor. Results. Parotid glands were affected with MALT-lymphoma most frequently. Predominant were extranodal lymphomas of the parotid submandibular, minor salivary glands of the lip and lacrimal glands of stage IE-II E. Extranodal lymphoma with nodal lesion of stage IV occurred less frequently. Untreated long existing MALT-lymphomas of the parotid glands may transform into B-large cell lymphomas deteriorating SD prognosis. The presence of long-term (> 12 months) massive enlargement of parotid/submandibular salivary and lacrimal glands, massive infiltration, monoclonal immunoglobulins in blood serum and their light chains in the urine predict development of MALT-lymphoma in SD. Conclusion. In SD, MALT-lymphomas develop primarily in target organs - salivary and lacrimal glands. SD patients with persistent enlargement of the parotid glands need biopsy for early detection of malignant lymphoproliferation

MALT-lymphomas in Sjogren's disease

Aim. To develop algorithm of early diagnosis of extranodal lymphoma arising in patients with Sjorgen's disease (SD). Material and methods. SD diagnosis was made in 457 patients treated in Rheumatology Institute clinic in 1999-2004, 38 (8.3%) females aged 19-82 had lymphoproliferative diseases. MAL T-lymphomas were diagnosed in 15 (42.2%) patients. All the patients have undergone morphological, immunomorphological investigations of the salivary glands, postoperative material was analysed in some patients. In addition, the following investigations were made: ultrasonography of the salivary glands, lymph nodes, viscera; scintigraphy; trephine biopsy of the bone marrow; myelograms; CT of the chest, abdomena and brain; tests for monoclonal immunoglobulins in the serum and light chains in urine, biopsy of the parotid gland. Clinical, morphological and immunophenotypical characteristics of MALT-lymphomas were assessed by WHO classification. Lymphoma stages were classified according to Ann Arbor. Results. Parotid glands were affected with MALT-lymphoma most frequently. Predominant were extranodal lymphomas of the parotid submandibular, minor salivary glands of the lip and lacrimal glands of stage IE-II E. Extranodal lymphoma with nodal lesion of stage IV occurred less frequently. Untreated long existing MALT-lymphomas of the parotid glands may transform into B-large cell lymphomas deteriorating SD prognosis. The presence of long-term (> 12 months) massive enlargement of parotid/submandibular salivary and lacrimal glands, massive infiltration, monoclonal immunoglobulins in blood serum and their light chains in the urine predict development of MALT-lymphoma in SD. Conclusion. In SD, MALT-lymphomas develop primarily in target organs - salivary and lacrimal glands. SD patients with persistent enlargement of the parotid glands need biopsy for early detection of malignant lymphoproliferation