Acquired Factor VII deficiency – a rare but important consideration

IntroductionIsolated acquired Factor VII deficiency is a rare coagulation disorder which is independent of vitamin K deficiency. The exact pathophysiological basis of this condition is unclear. We present a series of cases highlighting different clinical scenarios where this condition was encountered.Case seriesThe first case presented with intra-abdominal sepsis. The second was a patient admitted with acute kidney injury and subsequently diagnosed with myeloma. The final case presented with microangiopathic haemolytic anaemia and was suspected of having atypical Haemolytic Uraemic Syndrome. In each case, there was no family or personal history of a bleeding disorder. Follow-up Factor VII levels after recovery from illness was normal in all three cases.ConclusionAcquired Factor VII deficiency is an uncommon but important finding which should be considered in the general medical setting when an isolated prolonged prothrombin time is detected.

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Factor VII Deficiency and Pregnancy: A Case Report and Review of Literature

10.21203/rs.3.rs-502009/v1 ◽

2021 ◽

Author(s):

Minakshi Rohilla ◽

Rakhi Rai ◽

Jasmina Ahluwalia ◽

Pankaj Malhotra ◽

Vanita Jain

Keyword(s):

Autosomal Recessive ◽

English Literature ◽

Fresh Frozen Plasma ◽

Factor Vii ◽

Coagulation Disorder ◽

Review Of Literature ◽

Factor Vii Deficiency ◽

First Case ◽

Fresh Frozen ◽

Frozen Plasma

Abstract Inherited factor VII deficiency is an autosomal recessive coagulation disorder with broad range of bleeding manifestations. The association between bleeding and absolute factor VII level is poor. Usually, the bleeding is associated with FVII levels of less than 1% of the normal value. Factor VII deficiency is associated with prolongation of prothrombin time only with normal activated partial thromboplastin time. Approximately 66 pregnant women have been reported with factor VII deficiency so far in English literature. We hereby, report 2 cases along with the review of literature of Factor VII deficiency during pregnancy. Our patients were diagnosed to have factor VII deficiency after deranged coagulogram with factor VII level of < 1% and 17.1% respectively, however could be managed by fresh frozen plasma only in first case and fresh frozen plasma & factor VII concentrate in second case successfully. Coagulogram is a simple, easily available, affordable and lifesaving investigation to detect this deficiency in pregnancy.

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Management of pregnancy in women with factor VII deficiency: A case series

Haemophilia ◽

10.1111/hae.14086 ◽

2020 ◽

Vol 26 (4) ◽

pp. 652-656

Author(s):

Eun‐Ju Lee ◽

Laura Burey ◽

Sharon Abramovitz ◽

Maria T Desancho

Keyword(s):

Case Series ◽

Factor Vii ◽

Factor Vii Deficiency

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Factor VII verona coagulation disorder: double heterozygosis with an abnormal factor VII and heterozygous factor VII deficiency

Blood ◽

10.1182/blood.v50.4.603.603 ◽

1977 ◽

Vol 50 (4) ◽

pp. 603-610 ◽

Cited By ~ 25

Author(s):

A Girolami ◽

G Falezza ◽

G Patrassi ◽

M Stenico ◽

L Vettore

Keyword(s):

Factor Vii ◽

Coagulation Disorder ◽

Factor Vii Deficiency

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Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and in true factor VII deficiency: a study in homozygotes and heterozygotes

Hematology ◽

10.1179/102453311x13085644680069 ◽

2011 ◽

Vol 16 (5) ◽

pp. 308-312 ◽

Cited By ~ 6

Author(s):

A Girolami ◽

I Bertozzi ◽

G Berti de Marinis ◽

E Bonamigo ◽

F Fabris

Keyword(s):

Factor Vii ◽

Coagulation Disorder ◽

Factor Vii Deficiency

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Adrenocortical carcinoma complicated by renal thrombotic microangiopathy, a case-series

BMC Nephrology ◽

10.1186/s12882-020-1703-5 ◽

2020 ◽

Vol 21 (1) ◽

Cited By ~ 1

Author(s):

Tristan de Nattes ◽

Lucile Moreau-Grangé ◽

Delphine Vezzosi ◽

Julien Hadoux ◽

Miguel Hie ◽

...

Keyword(s):

Hemolytic Anemia ◽

Thrombotic Microangiopathy ◽

Adrenocortical Carcinoma ◽

Renal Involvement ◽

Specific Treatment ◽

Case Series ◽

Kidney Injury ◽

Surgical Removal ◽

First Case ◽

Dismal Prognosis

Abstract Background Cancer-related thrombotic microangiopathy (CR-TMA) is a rare entity associated with a dismal prognosis. Usually, CR-TMA is associated with mucin-producing carcinomas among which stomach, breast, prostate, lung and pancreas tumours are the most frequent. Cases presentation We describe for the first time three cases of CR-TMA due to adrenocortical carcinoma (ACC). All of them had mechanical hemolytic anemia and thrombocytopenia without any other identifiable cause. Bicytopenia was diagnosed either simultaneously with ACC or at the time of metastatic evolution. Two patients had acute kidney injury (AKI) with severe pathological findings on kidney biopsy. Despite total adrenalectomy, chemotherapy, and specific treatment of TMA with plasma-exchanges, renal failure and hemolytic anemia remained. The only manifestation of CR-TMA in the third patient was hemolytic anemia, which resolved after surgical removal of ACC. The evolutions in these patients suggests ACC-related TMA may be related to a circulating factor. Conclusions CR-TMAs are rare. Here we describe the first case series of ACC-related TMA, among which two had renal involvement. This entity is associated with dismal renal prognosis despite specific treatment of TMA. According to patients’ evolution, the persistence of TMA may reflect an uncontrolled malignancy.

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Factor VII verona coagulation disorder: double heterozygosis with an abnormal factor VII and heterozygous factor VII deficiency

Blood ◽

10.1182/blood.v50.4.603.bloodjournal504603 ◽

1977 ◽

Vol 50 (4) ◽

pp. 603-610 ◽

Cited By ~ 1

Author(s):

A Girolami ◽

G Falezza ◽

G Patrassi ◽

M Stenico ◽

L Vettore

Keyword(s):

Factor Vii ◽

Coagulation Disorder ◽

Factor Vii Deficiency

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Two cases of carfilzomib‐induced thrombotic microangiopathy successfully treated with Eculizumab in multiple myeloma

BMC Nephrology ◽

10.1186/s12882-020-02226-5 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Michael Rassner ◽

Rebecca Baur ◽

Ralph Wäsch ◽

Mario Schiffer ◽

Johanna Schneider ◽

...

Keyword(s):

Multiple Myeloma ◽

Thrombotic Microangiopathy ◽

Influenza A ◽

Late Onset ◽

Case Series ◽

Kidney Injury ◽

Definitive Treatment ◽

Post Transplantation ◽

Treatment Protocols ◽

First Case

Abstract Background Treatment with proteasome inhibitors like carfilzomib in patients with multiple myeloma (MM) can induce thrombotic microangiopathy (TMA) characterized by neurological symptoms, acute kidney injury, hemolysis and thrombocytopenia. Successful treatment with the monoclonal antibody eculizumab was described for these patients, but reports of ideal management and definitive treatment protocols are lacking. Case Presentation The first case describes a 43-years-old IgG-kappa-MM patient that developed TMA during the first course of carfilzomib-lenalidomide-dexamethasone (KRd) consolidation after autologous stem cell transplantation (ASCT). In the second case, a 59-years-old IgG-kappa-MM patient showed late-onset TMA during the fourth and last cycle of elotuzumab-KRd consolidation within the DSMM XVII study of the German study group MM (DSMM; clinicalTrials.gov Identifier: NCT03948035). Concurrently, he suffered from influenza A/B infection. Both patients had a high TMA-index for a poor prognosis of TMA. Therapeutically, in both patients plasma exchange (TPE) was initiated as soon as TMA was diagnosed. In patient #1, dialysis became necessary. For both patients, only when the complement inhibitor eculizumab was administered, kidney function and blood values impressively improved. Conclusion In this small case series, two patients with MM developed TMA due to carfilzomib treatment (CFZ-TMA), the second patient as a late-onset form. Even though TMA could have been elicited by influenza in the second patient and occurred after ASCT in both patients, with cases of TMA post-transplantation in MM being described, a relation of TMA and carfilzomib treatment was most likely. In both patients, treatment with eculizumab over two months efficiently treated TMA without recurrence and with both patients remaining responsive months after TMA onset. Taken together, we describe two cases of TMA in MM patients on carfilzomib-combination treatment, showing similar courses of this severe adverse reaction, with good responses to two months of eculizumab treatment.

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Inguinoscrotal hernias involving urologic organs: A case series

Canadian Urological Association Journal ◽

10.5489/cuaj.225 ◽

2014 ◽

Vol 8 (5-6) ◽

pp. 429 ◽

Cited By ~ 13

Author(s):

Jeffrey Peter McKay ◽

Michael Organ ◽

Christopher Gallant ◽

Christopher French

Keyword(s):

Acute Kidney Injury ◽

Inguinal Hernia ◽

Case Series ◽

Kidney Injury ◽

Diagnosis And Treatment ◽

Indirect Inguinal Hernia ◽

Ureteric Obstruction ◽

First Case ◽

History Of ◽

The Right

We report 2 cases of inguinoscrotal hernias involving urologic organs. The first case involved an elderly gentleman with a history of micturition by squeezing his scrotum. He was diagnosed as having a right-sided indirect inguinal hernia involving the right ureter and bladder. Treatment was surgical. The second case involved an achondroplastic male who presented with acute kidney injury. He had bilateral hydronephrosis and ureteric obstruction secondary to an ureteroinguinal herniation bilaterally. The presentation, diagnosis, and treatment of inguinoscrotal hernias involving the bladder and ureters are discussed.

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Factor VII Deficiency In African American Individuals. Presentation, Diagnosis and Management.A Single Medical Center Experience

Blood ◽

10.1182/blood.v122.21.4779.4779 ◽

2013 ◽

Vol 122 (21) ◽

pp. 4779-4779

Author(s):

Tabitha Nicole Townsend ◽

John Lazarchick ◽

Charles S Greenberg ◽

Jenny H. Petkova

Keyword(s):

African American ◽

Conflicts Of Interest ◽

Clinical Manifestations ◽

Activity Level ◽

Factor Vii ◽

Poor Correlation ◽

Severe Bleeding ◽

Coagulation Disorder ◽

Factor Vii Deficiency

Background Factor VII (FVII), a vitamin K-dependent glycoprotein serine protease, is produced by the liver and plays a fundamental role in the activation of the extrinsic coagulation pathway. Hereditary factor VII deficiency is a rare coagulation disorder with autosomal recessive inheritance and an approximate prevalence of 1:500,000. Clinical manifestations vary from no symptoms to severe bleeding events and often correlate poorly with plasma levels of factor VII. Therapy for factor VII deficiency depends on the severity and the type of bleeding and includes fresh frozen plasma (FFP), antifibrinolytics and recombinant factor VIIa (rFVIIa). Recent data from the STER registry suggests that bleeding symptoms on presentation and factor VII activity level can be used to identify clinical variants and guide replacement therapy. The majority of patients enrolled in this registry were from European countries. Patients of African American origin remain poorly characterized. Aims We present our experience with diagnosis and management of patients, predominantly African American, in a large academic institution. We retrospectively reviewed the data on seven patients diagnosed with isolated factor VII deficiency and their management. Results Six of the seven patients followed in our institution were African American. Of them, three were female and three were male. A six month old girl was diagnosed during treatment for sepsis. She had no bleeding symptoms (FVII activity 27% on presentation, 32% one month later). The other two female patients presented with obstetrical bleeding (FVII <3% and 11% respectively). Of the male patients, two six year old twins had epistaxis (FVII activity 12%). Another six year old boy presented with trauma-associated hemorrhage, but had no prior history of bleeding (FVII 4%). Follow up data were available on five of the patients. Duration of follow up ranged from 6 months to more than 10 years. None of the patients had spontaneous bleeding, regardless of their presentation or level of FVII activity. The patients with bleeding and those who needed surgery received FFP (two patients prior to making the diagnosis) and rFVIIa (four patients). The doses used were 10-25mcg/kg in one or two applications. No bleeding and no thrombotic complications were observed with this therapy. None of the patients received antifibrinolytics. The one White Caucasian patient was a 25 year old male who presented with bleeding after trauma (FVII activity was 10%) and was managed with rFVIIa (25mcg/kg). Conclusion Our data demonstrates that, in African American patients, factor VII deficiency presents with variable clinical findings. There was poor correlation between the FVII levels and the clinical phenotype. Management with rFVIIa, used at the time of surgery or trauma at low to intermediate doses, was sufficient to prevent bleeding and was not associated with any significant complications. Disclosures: No relevant conflicts of interest to declare.

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MO168MANAGEMENT OF ANTICOAGULANT RELATED NEPHROPATHY: SLOVENIAN CASE SERIES AND REVIEW OF CURRENT KNOWLEDGE

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfab092.0046 ◽

2021 ◽

Vol 36 (Supplement_1) ◽

Author(s):

Željka Večerić-Haler ◽

Tanja Belčič Mikič ◽

Nika Kojc ◽

Maja Frelih ◽

Andreja Ales Rigler

Keyword(s):

Renal Function ◽

Current Knowledge ◽

Treated Patient ◽

Case Reports ◽

Oral Anticoagulants ◽

Direct Oral Anticoagulants ◽

Case Series ◽

Kidney Injury ◽

First Case ◽

Excessive Anticoagulation

Abstract Background and Aims Anticoagulant-related nephropathy is a recently recognized form of acute kidney injury associated with previously underdiagnosed kidney damage in addition to (usually) excessive anticoagulation. It occurs in patients receiving warfarin as well as those receiving direct oral anticoagulants. Method We collected and analyzed cases of Slovenian patients with pathohistologically documented anticoagulant-related nephropathy associated with all types of anticoagulant treatment from the first case in 2014 to 2020. We also performed an analysis of previously documented cases of anticoagulant-related nephropathy in the global literature (PubMed) in the period from their first mention until recently. Results In Slovenia, 13 patients with anticoagulant-related nephropathy have been histologically verified so far. All patients were diagnosed with concomitant underlying renal disease, and 80% had IgA nephropathy, which was disproportionately mild according to the degree of renal function impairment. After supportive measures and reversal of excessive anticoagulation, 8 of 13 patients were further treated with corticosteroids, resulting in significant improvement in renal function. During the follow-up period, a total of one steroid-treated patient died due to infectious complications and one patient progressed to end-stage renal failure. In the worldwide literature, we found 46 case reports or case series of patients with anticoagulant-related nephropathy. Failure of restitution of renal function with the need for maintenance dialysis was reported much more frequently compared to the results of our cohort (up to 67% vs. 8.3%) Conclusion To our knowledge, the Slovenian cohort of patients with histologically established anticoagulant-related nephropathy is the largest reported series to date that received corticosteroid therapy in addition to conservative measures. Our results indicate that steroids have a beneficial effect, likely exerted via suppression of hemoglobin-associated oxidative stress and inflammation. However, considering the polimorbidity of these patients, the benefit of additional steroid therapy must be weighed against the potential risks of side effects, especially life-threatening infections.

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