Ehlers-Danlos Syndrome (EDS) refers to a group of inherited connective tissue disorders caused by defects in collagen, a key protein that provides strength and elasticity to tissues.\nSymptoms vary, but the most common include joint hypermobility, pain and instability, thin, elastic, and fragile skin, and a tendency to bruise and scar easily.\nIn more severe cases, complications can involve blood vessels (such as aortic dissection and aneurysms), heart valves, the digestive system, and the spine.<\/p>\n\n\n\n
EDS awareness month offers an opportunity to raise awareness about the challenges of living with this syndrome.<\/p>\n\n\n\n May 6 \u2013 World Moyamoya Disease Day<\/strong> World Moyamoya Disease Day is focused on raising awareness about this serious condition.<\/p>\n\n\n\n May 6\u201313 \u2013 Osteogenesis Imperfecta Awareness Week<\/strong> Osteogenesis Imperfecta Awareness Week aims to educate the public about the importance of early diagnosis and providing support for those affected by the disease.<\/p>\n\n\n\n May 10 \u2013 World Lupus Awareness Day<\/strong> This day is dedicated to raising awareness about lupus, its symptoms, and the importance of early detection.<\/p>\n\n\n May 10 \u2013 World Cornelia de Lange Syndrome Awareness Day<\/strong> This day, symbolized by the color purple, aims to raise awareness about the syndrome, inform the public, and provide support to individuals with this rare genetic disorder and their families.<\/p>\n\n\n 15. svibnja \u2013 Svjetski dan svjesnosti o mukopolisaharidozama<\/strong> Svjetski dan svjesnosti o mukopolisaharidozama (MPS) posve\u0107en je podizanju svijesti o ovim rijetkim genetskim bolestima i podr\u0161ci obiteljima, te poticanju boljeg lije\u010denja.<\/p>\n\n\n May 15 \u2013 World Mucopolysaccharidosis Awareness Day<\/strong> World MPS Awareness Day is dedicated to raising awareness about these rare genetic disorders, supporting families, and promoting better treatment options.<\/p>\n\n\n May 16 \u2013 World Hereditary Angioedema Awareness Day<\/strong> World Hereditary Angioedema Awareness Day on May 16 aims to raise awareness about this rare disease. On this day, the public is educated about the symptoms, challenges of living with the disease, and support for affected individuals and their families, while also encouraging research and development of better treatments.<\/p>\n\n\n May 17 \u2013 World Neurofibromatosis Awareness Day<\/strong> World Neurofibromatosis Awareness Day helps to educate society about the symptoms, diagnosis, and treatment options available for neurofibromatoses.<\/p>\n\n\n This content was created with the financial support of the Ministry of Health.\nThe content of this document is the sole responsibility of the Croatian Alliance for Rare Diseases and under no circumstances can it be considered as reflecting the views of the Ministry of Health.<\/p>\n\n\n In May, we observe days dedicated to the following diagnoses: Moyamoya syndrome, osteogenesis imperfecta, Ehlers-Danlos syndrome, lupus, Cornelia de Lange syndrome, mucopolysaccharidoses, tuberous sclerosis, hereditary angioedema, and neurofibromatosis.\nMay is an opportunity for all of us to raise awareness of these rare diagnoses and to show support for those who live with them...<\/p>","protected":false},"author":3,"featured_media":5171,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[1],"tags":[],"class_list":["post-5000","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"yoast_head":"\n![\"\"](\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2025\/04\/EDS-1024x317.jpg\")
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Moyamoya is a rare neurological disorder in which the blood vessels in the brain become narrowed or blocked, prompting the body to create tiny collateral vessels that resemble a \"puff of smoke\" on imaging.\nIt was first described by Japanese researchers in 1957.\nWithout treatment, it can lead to serious neurological complications, including strokes and even death. However, timely surgical intervention is highly effective.\nSymptoms may include headaches, limb numbness, and ringing in the ears.\nTreatment includes both conservative approaches and surgical procedures, such as stent placement.<\/p>\n\n\n\n![\"\"](\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2025\/04\/Moya-moya.jpg\")
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Osteogenesis imperfecta, also known as \u201cbrittle bone disease,\u201d causes bones to become extremely fragile and prone to fractures. The clinical presentation of the disease varies from mild to severe.\nThere are 8 types of OI, classified based on the mode of inheritance, signs, and symptoms.\nDiagnosis is made through a detailed medical history, clinical examination, and various tests such as X-ray, DXA scans, bone biopsy, and genetic testing to confirm the diagnosis.\nPrevention of fractures and bone deformities is essential for patients with OI. Orthopedic treatment must be tailored to each patient individually.\nPharmacotherapy primarily involves the use of bisphosphonates, which help prevent fractures and strengthen bone structure.<\/p>\n\n\n\n![\"\"](\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2025\/04\/OI-1.png\")
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Lupus, or systemic lupus erythematosus, is a chronic, multisystem inflammatory disease of likely autoimmune origin, most commonly affecting young women.\nThe leading symptoms include arthralgia and arthritis, rashes on the cheeks and other areas, pleuritis or pericarditis, kidney or central nervous system involvement, and cytopenia in the blood count.\nDiagnosis is based on clinical and serological criteria.\nTreatment of severe forms typically involves corticosteroids, often hydroxychloroquine, and sometimes immunosuppressants.<\/p>\n\n\n\n![\"\"](\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2025\/04\/lupus-1024x536.webp\")
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Every year, on the second Saturday of May, we observe World Cornelia de Lange Syndrome Awareness Day, a rare genetic disorder that causes slow growth, intellectual disabilities, upper limb skeletal abnormalities, and issues such as muscle spasms, breathing difficulties, and epilepsy.<\/p>\n\n\n\n![\"\"](\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2025\/04\/Cornelia-De-Lange.png\")
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Mukopolisaharidoze su nasljedne, uro\u0111ene metaboli\u010dke bolesti koje se razviju zbog nedostatne razgradnje mukopolisaharida (zvanih i glukozaminoglikani, GAG). To uzrokuje nakupljanje i talo\u017eenje u nekoliko tkiva tijela. Naslage utje\u010du na kostur i izgled te uzrokuju postupni progresivni invaliditet. Simptomi bolesti i komplikacije razlikuju se ovisno o razli\u010ditim mukopolisaharidozama. Neke vrste uzrokuju ka\u0161njenje u razvoju i o\u0161te\u0107enje mozga, druge obi\u010dno ne. Mukopolisaharidoze spadaju u skupinu lizosomskih bolesti nakupljanja.<\/p>\n\n\n\n![\"\"](\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2025\/04\/MPS-2-1024x615.jpg\")
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Mucopolysaccharidoses (MPS) are inherited, congenital metabolic disorders that occur due to inadequate breakdown of mucopolysaccharides (also known as glycosaminoglycans, GAGs). This causes accumulation and deposition in several body tissues. The deposits affect the skeleton and appearance, leading to gradual progressive disability.\nSymptoms and complications vary depending on the type of MPS. Some types cause developmental delays and brain damage, while others typically do not.\nMucopolysaccharidoses are classified as lysosomal storage diseases.<\/p>\n\n\n\n![\"\"](\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2025\/04\/TSC.jpg\")
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Hereditarni angioedem je rijedak nasljedni poreme\u0107aj imunolo\u0161kog sustava u kojemu nastaju otekline, naj\u010de\u0161\u0107e u podru\u010dju lica, di\u0161nih putova i probavnog trakta, koje mogu ugro\u017eavati \u017eivot. U hereditarnom angioedemu postoji manjak ili nepravilnost bjelan\u010devine zvane C1 inhibitor, normalno prisutne u krvi. C1 inhibitor ima ulogu u kontroli sustava komplementa pa bez njega dolazi do prevelike aktivacije tog sustava \u0161to vodi stvaranju oteklina. Napade poti\u010de trauma ili zarazne bolest, a mo\u017ee ih izazvati i emocionalni stres. Otekline su posebno opasne u grkljanu jer mogu dovesti do gu\u0161enja. Gr\u010devi u trbuhu, proljevi i povra\u0107anje izazvani su oteklinama crijeva i \u010desto vode nepotrebnim operacijama i odga\u0111anjem dijagnoze. Prisutne su i deformacije lica zbog oteknu\u0107a. U lije\u010denju se koristi C1 inhibitor, bilo zasebno ili iz svje\u017ee smrznuta plazme zdravog donora u \u010dijoj se krvi normalno nalazi.<\/p>\n\n\n\n![\"\"](\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2025\/04\/HAE.jpg\")
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Neurofibromatoses are genetic diseases caused by gene mutations, specifically autosomal dominant inherited conditions that predispose individuals to the development of changes in the nervous system, including benign tumors called neurofibromas and skin pigment changes.\nThere are three types of neurofibromatosis, each with different genetic causes: NF1, NF2, and schwannomatosis.\nNF1 causes skin, neurological, and bone abnormalities, including neurofibromas, caf\u00e9-au-lait spots, and optic gliomas.\nNF2 is characterized by bilateral acoustic neuromas.\nSchwannomatosis results in multiple schwannomas without acoustic neuromas.<\/p>\n\n\n\n![\"\"](\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2025\/04\/NF.png\")
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