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BMC Nephrology May 2024Atypical haemolytic uremic syndrome (aHUS) is an uncommon form of thrombotic microangiopathy (TMA). However, it remains difficult to diagnose the disease early, given...
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.
Topics: Humans; Still's Disease, Adult-Onset; Atypical Hemolytic Uremic Syndrome; Complement Factor H; Adult; Male; Autoantibodies; Macrophage Activation Syndrome
PubMed: 38745129
DOI: 10.1186/s12882-024-03548-4 -
Platelets Dec 2024Immune thrombocytopenia (ITP) is a common autoimmune hematological disorder. Despite this, diagnosis is still challenging due to clinical heterogeneity and the lack of a...
Immune thrombocytopenia (ITP) is a common autoimmune hematological disorder. Despite this, diagnosis is still challenging due to clinical heterogeneity and the lack of a specific diagnostic test. New findings in the pathology and the availability of new drugs have led to the development of different guidelines worldwide. In the present study, the Delphi methodology has been used to get a consensus on the management of adult patients with ITP in Spain and to help in decision-making. The Delphi questionnaire has been designed by a scientific ad hoc committee and has been divided into 13 topics, with a total of 127 items, covering the maximum possible scenarios for the management of ITP. As a result of the study, a total consensus of 81% has been reached. It is concluded that this Delphi consensus provides practical recommendations on topics related to diagnosis and management of ITP patients to help doctors to improve outcomes. Some aspects remain unclear, without consensus among the experts. Thus, more advances are needed to optimize ITP management.
Topics: Humans; Purpura, Thrombocytopenic, Idiopathic; Spain; Delphi Technique; Consensus; Surveys and Questionnaires
PubMed: 38742687
DOI: 10.1080/09537104.2024.2336104 -
Rheumatology International Jul 2024IgA-associated vasculitis (IgAV) known as Henoch - Schönlein purpura (HSP) disease is an inflammatory disorder of small blood vessels. It's the most common type of... (Review)
Review
IgA-associated vasculitis (IgAV) known as Henoch - Schönlein purpura (HSP) disease is an inflammatory disorder of small blood vessels. It's the most common type of systemic vasculitis in children which can be associated with the inflammatory process following infections. IgA vasculitis is a rare and poorly understood systemic vasculitis in adults. Coronavirus disease 2019 (COVID-19) has been associated with HSP in both adults and children. A 58-year-old woman was diagnosed with HSP, fulfilling the clinical criteria: palpable purpura, arthritis, hematuria. The disclosure of the HSP disease was preceded by a infection of the respiratory tract. COVID-19 infection was confirmed via the presence of IgM and IgG antibodies. This case indicates the possible role of SARS-CoV-2 in the development of HSP. The clinical course of IgAV in adults appears to be different from pediatric IgAV, especially due to higher risk of renal complications. Symptoms of the disease quickly resolved with low-dose of steroids.
Topics: Humans; COVID-19; IgA Vasculitis; Female; Middle Aged; SARS-CoV-2; Immunoglobulin A
PubMed: 38739223
DOI: 10.1007/s00296-024-05606-4 -
Tidsskrift For Den Norske Laegeforening... May 2024
Topics: Humans; Purpura; Golf
PubMed: 38738575
DOI: 10.4045/tidsskr.24.0262 -
Cureus Apr 2024Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening hematologic disorder characterized by hemolytic anemia, thrombocytopenia, renal...
Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening hematologic disorder characterized by hemolytic anemia, thrombocytopenia, renal failure, fever, and neurologic dysfunction. While cases often do not present with all five characteristics (<5%), TTP can be hereditary or acquired, often due to a deficiency or dysfunction of the ADAMST13 enzyme. Here, we describe a case of infection-induced acquired TTP in a middle-aged male with urinary tract infection (UTI) and perianal abscess. Suspicion arose from hematologic abnormalities, fever, thrombocytopenia, acute renal failure, and the presence of an underlying infection. A PLASMIC score of 6 (indicating a 72% probability of ADAMTS13 deficiency) prompted ADAMTS13 level testing, revealing levels <5% with the presence of an inhibitor, confirming TTP diagnosis. Treatment with high-dose steroids and daily plasma exchange yielded a swift platelet response, necessitating only two to three days of plasma exchange. In addition, incision and drainage of the perianal abscess were performed. The patient was discharged on daily prednisone and initiated on four doses of weekly Rituximab to mitigate recurrence risk. This case underscores the importance of early suspicion and treatment in infectious triggers such as UTI/perianal abscess, offering crucial diagnostic and prognostic insights.
PubMed: 38738139
DOI: 10.7759/cureus.57950 -
Cureus Apr 2024Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening disorder typically presenting with a classic pentad of symptoms: thrombocytopenia, microangiopathic...
Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening disorder typically presenting with a classic pentad of symptoms: thrombocytopenia, microangiopathic hemolytic anemia, neurological abnormalities, renal dysfunction, and fever. This report explores an unusual presentation of TTP in a 47-year-old female with a medical history of hypertension, hyperlipidemia, and chronic TTP, who exhibited only petechial rashes, generalized weakness, and headache. Notably, the petechial rash, a less common manifestation of TTP, became a pivotal clue for the diagnosis, underscoring the necessity for vigilance even when classic symptoms are absent. This case reinforces the imperative of a high suspicion index for TTP, especially in patients with thrombocytopenia and hemolytic anemia, irrespective of other traditional signs. Plasmapheresis remains the treatment cornerstone, removing autoantibodies and replenishing ADAMTS13, as evidenced by the patient's initial response. The administration of rituximab, targeting B cells to mitigate autoantibody production against ADAMTS13, featured prominently in her management, aligning with its recognized role in refractory or relapsing TTP cases. Despite an encouraging response to rituximab, a subsequent decline in platelet count indicated the unpredictable nature of TTP and the necessity for multi-pronged therapeutic strategies. The patient's medical background and persistently low ADAMTS13 levels hinted at a chronic relapsing trajectory associated with increased morbidity and mortality. This necessitates ongoing vigilance and treatment flexibility. Highlighting this atypical TTP presentation, the report calls for immediate, robust intervention, serving as a critical reminder of the heterogeneity of TTP manifestations and the complexities in its management, thereby contributing to broader clinical awareness and improved patient prognoses.
PubMed: 38738084
DOI: 10.7759/cureus.57994 -
Cureus Apr 2024A 79-year-old man with type II diabetes mellitus and recently diagnosed idiopathic thrombocytopenic purpura presented to the Emergency Department with progressive...
A 79-year-old man with type II diabetes mellitus and recently diagnosed idiopathic thrombocytopenic purpura presented to the Emergency Department with progressive dyspnea over the course of two weeks. He was found to have diffuse miliary nodules, dense cavitary consolidation, and widespread cystic changes on chest imaging and died within 48 hours of admission to the hospital. His serum Coccidioides antibody and urine Histoplasma antigen were both positive. He later grew from the blood, supporting the theory that Histoplasma positivity was likely the result of antigen test cross-reactivity. Coccidioidomycosis typically presents with mild, self-limited symptoms, but may also disseminate rapidly, causing fulminant, life-threatening disease. Prompt recognition of risk factors for fulminant coccidioidomycosis and understanding flaws in serologic testing are essential to the appropriate diagnosis and management of this disease.
PubMed: 38738009
DOI: 10.7759/cureus.58129 -
Archives of Plastic Surgery May 2024Lipedema is a progressive connective tissue disease with enlargement of adipose tissue, fibrosis, fluid collection, and dermal thickening. Herein, we present a case of...
Lipedema is a progressive connective tissue disease with enlargement of adipose tissue, fibrosis, fluid collection, and dermal thickening. Herein, we present a case of lipedema associated with skin hypoperfusion and ulceration in which soft tissue debulking with liposuction improved patients' symptoms. A 39-year-old female presented with asymmetric progressive initially unilateral lower limb swelling with severe pain with subsequent skin ulceration. Conservative management failed to improve her condition. After excluding other causes and detailed radiologic investigation, lipedema was diagnosed with an associated impaired skin perfusion. Trial of local wound care and compression therapy failed to improve the condition. Subsequent soft tissue debulking with circumferential liposuction and ulcer debridement and immediate compression showed dramatic improvement of the symptoms and skin perfusion. The unique nature of this case sheds light on lipedema as a loose connective tissue disease. Inflammation and microangiopathies explain the associated pain with hypoperfusion and ulceration being quite atypical and in part might be related to the large buildups of matrix proteins and sodium contents leading to fragility in microvessels with frequent petechiae and hematoma and subsequent tissue ischemia. Conservative measures like compression therapy plays a significant role in disease course. Surgical debulking with liposuction was shown to be efficacious in reducing the soft tissue load with improvement in limb pain, edema, circumference, and skin perfusion that was seen in our patient. Lipedema is a frequently misdiagnosed condition with disabling features. Skin involvement in lipedema with potential hypoperfusion was shown and it requires further investigation.
PubMed: 38737852
DOI: 10.1055/a-2181-8469 -
Mediterranean Journal of Rheumatology Mar 2024Vascular purpura can be the clinical expression of infectious, inflammatory, drug-related, neoplastic, and endocrine pathologies. To date, there is no consensus...
BACKGROUND
Vascular purpura can be the clinical expression of infectious, inflammatory, drug-related, neoplastic, and endocrine pathologies. To date, there is no consensus codifying the investigation of vascular purpura, especially when it is isolated.
PATIENTS AND METHODS
We proposed to study through a retrospective study of 73 cases of vascular purpura, occurring during the period 2004-2019 in our internal medicine department, the contribution of various clinical and paraclinical data to the aetiological diagnosis of vascular purpura. Data were considered to be contributory only when they constituted a solid argument in favour of the aetiological diagnosis of vascular purpura.
RESULTS
Our series involved 73 patients including 41 women and 32 men (Gender ratio: 0.78). Mean age was 49 ± 17 years [16-80]. Vascular purpura was isolated in 3% of cases. For the remaining patients, it was associated with functional (91%) or physical (48%) manifestations. It was associated with other skin lesions in 45% of cases. The accepted aetiologies were primary vasculitis (26%), drug-related (15%), infectious (11%) and secondary to connectivitis (10%). No cause was found in a third of cases. Clinical data alone made it possible to suggest the aetiology in more than half of cases. Special investigations were contributory in 46% of cases. The course was contributory in 18% of patients for drug-related and paraneoplastic causes.
CONCLUSION
vascular purpura's diverse clinical presentation presents diagnostic challenges. Aetiologies include vasculitis, drug reactions, infections, and connective tissue disorders. Comprehensive clinical assessment is essential.
PubMed: 38736952
DOI: 10.31138/mjr.280723.aov -
International Journal of Molecular... May 2024Platelets play an important role in hemostasis, and a low platelet count usually increases the risk of bleeding. Conditions in which thrombosis occurs despite low... (Review)
Review
Platelets play an important role in hemostasis, and a low platelet count usually increases the risk of bleeding. Conditions in which thrombosis occurs despite low platelet counts are referred to as thrombosis with thrombocytopenia syndrome, including heparin-induced thrombocytopenia, vaccine-induced immune thrombotic thrombocytopenia, paroxysmal nocturnal hemoglobinuria, antiphospholipid syndrome, thrombotic microangiopathy (TMA), and disseminated intravascular coagulation. TMA includes thrombotic thrombocytopenic purpura, Shiga toxin-producing -associated hemolytic uremic syndrome (HUS), and atypical HUS. Patients with these pathologies present with thrombosis and consumptive thrombocytopenia associated with the activation of platelets and the coagulation system. Treatment varies from disease to disease, and many diseases have direct impacts on mortality and organ prognosis if therapeutic interventions are not promptly implemented. Underlying diseases and the results of physical examinations and general laboratory tests as part of a thorough workup for patients should promptly lead to therapeutic intervention before definitive diagnosis. For some diseases, the diagnosis and initial treatment must proceed in parallel. Utilization of not only laboratory tests but also various scoring systems is important for validating therapeutic interventions based on clinical information.
Topics: Humans; Thrombocytopenia; Thrombosis; Blood Platelets; Platelet Count; Heparin; Thrombotic Microangiopathies
PubMed: 38732176
DOI: 10.3390/ijms25094956