NDLI: An unusual case of adult-onset still’s disease complicated with anti-complement factor H antibodies associated atypical haemolytic uraemic syndrome

Content Provider	Springer Nature : BioMed Central
Author	Fung, Winston Wing-Shing Chao, Amelia Chien-Wei Pang, Wing-Fai Wong, Raymond Siu-Ming Chow, Kai-Ming Szeto, Cheuk-Chun
Abstract	Background Atypical haemolytic uremic syndrome (aHUS) is an uncommon form of thrombotic microangiopathy (TMA). However, it remains difficult to diagnose the disease early, given its non-specific and overlapping presentation to other conditions such as thrombotic thrombocytopenic purpura and typical HUS. It is also important to identify the underlying causes and to distinguish between primary (due to a genetic abnormality leading to a dysregulated alternative complement pathway) and secondary (often attributed by severe infection or inflammation) forms of the disease, as there is now effective treatment such as monoclonal antibodies against C5 for primary aHUS. However, primary aHUS with severe inflammation are often mistaken as a secondary HUS. We presented an unusual case of adult-onset Still’s disease (AOSD) with macrophage activation syndrome (MAS), which is in fact associated with anti-complement factor H (anti-CFH) antibodies related aHUS. Although the aHUS may be triggered by the severe inflammation from the AOSD, the presence of anti-CFH antibodies suggests an underlying genetic defect in the alternative complement pathway, predisposing to primary aHUS. One should note that anti-CFH antibodies associated aHUS may not always associate with genetic predisposition to complement dysregulation and can be an autoimmune form of aHUS, highlighting the importance of genetic testing. Case presentation A 42 years old man was admitted with suspected adult-onset Still’s disease. Intravenous methylprednisolone was started but patient was complicated with acute encephalopathy and low platelet. ADAMTS13 test returned to be normal and concurrent aHUS was eventually suspected, 26 days after the initial thrombocytopenia was presented. Plasma exchange was started and patient eventually had 2 doses of eculizumab after funding was approved. Concurrent tocilizumab was also used to treat the adult-onset Still’s disease with MAS. The patient was eventually stabilised and long-term tocilizumab maintenance treatment was planned instead of eculizumab following haematology review. Although the aHUS may be a secondary event to MAS according to haematology opinion and the genetic test came back negative for the five major aHUS gene, high titre of anti-CFH antibodies was detected (1242 AU/ml). Conclusion Our case highlighted the importance of prompt anti-CFH antibodies test and genetic testing for aHUS in patients with severe AOSD and features of TMA. Our case also emphasized testing for structural variants within the CFH and CFH-related proteins gene region, as part of the routine genetic analysis in patients with anti-CFH antibodies associated aHUS to improve diagnostic approaches.
Related Links	https://bmcnephrol.biomedcentral.com/counter/pdf/10.1186/s12882-024-03548-4.pdf
Ending Page	6
Page Count	6
Starting Page	1
File Format	HTM / HTML
ISSN	14712369
DOI	10.1186/s12882-024-03548-4
Journal	BMC Nephrology
Issue Number	1
Volume Number	25
Language	English
Publisher	BioMed Central
Publisher Date	2024-05-14
Access Restriction	Open
Subject Keyword	Nephrology Internal Medicine Atypical haemolytic syndrome Adult-onset still?s disease Macrophage activation syndrome Anti-complement factor H antibodies
Content Type	Text
Resource Type	Case study
Subject	Nephrology
Journal Impact Factor	2.2/2023
5-Year Journal Impact Factor	2.6/2023

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Varicella as a trigger of atypical haemolytic uraemic syndrome associated with complement dysfunction: two cases

Non-atheromatous arterial stenoses in atypical haemolytic uraemic syndrome associated with complement dysregulation

Complement factor H mutation associated with membranoproliferative glomerulonephritis with transformation to atypical haemolytic uraemic syndrome

Atypical haemolytic-uraemic syndrome caused by factor H mutation: case report and new management strategies in children

Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome

Early treatment with eculizumab in atypical haemolytic uraemic syndrome

Macrophage Activation Syndrome (MAS): A Case Report and Narrative Review.

Exceptional Case Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri

Eculizumab in an anephric patient with atypical haemolytic uraemic syndrome and advanced vascular lesions

An unusual case of adult-onset still’s disease complicated with anti-complement factor H antibodies associated atypical haemolytic uraemic syndrome

Similar Documents

Varicella as a trigger of atypical haemolytic uraemic syndrome associated with complement dysfunction: two cases

Non-atheromatous arterial stenoses in atypical haemolytic uraemic syndrome associated with complement dysregulation

Complement factor H mutation associated with membranoproliferative glomerulonephritis with transformation to atypical haemolytic uraemic syndrome

Atypical haemolytic-uraemic syndrome caused by factor H mutation: case report and new management strategies in children

Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome

Early treatment with eculizumab in atypical haemolytic uraemic syndrome

Macrophage Activation Syndrome (MAS): A Case Report and Narrative Review.

Exceptional Case Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri

Eculizumab in an anephric patient with atypical haemolytic uraemic syndrome and advanced vascular lesions

An unusual case of adult-onset still’s disease complicated with anti-complement factor H antibodies associated atypical haemolytic uraemic syndrome