Acquired FXIII deficiency is associated with high morbidity

2021 ◽  
Author(s):  
Patricia Duque ◽  
Maite Chasco-Ganuza ◽  
Ariana Ortuzar ◽  
Carolina Almaraz ◽  
Estrella Terradillos ◽  
...  
Keyword(s):  
Major Bleeding ◽  
Factor Xiii ◽  
Surgical Patients ◽  
High Morbidity ◽  
Coagulation Test ◽  
Large Hospital ◽  
Spontaneous Bleeding ◽  
High Incidence ◽  
Fxiii Activity ◽  
Fxiii Deficiency

Background: A factor XIII (FXIII) level >30% is considered necessary to prevent spontaneous bleeding. Bleeding is also a risk in patients with acquired FXIII deficiency, but the hemostatic level of FXIII in this context remains to be determined. Material & Methods: We retrospectively analyzed all patients diagnosed with acquired FXIII deficiency at a large hospital over 3 years (study ID NCT04416594, http://www.clinicaltrials.gov) and assessed clinical data to identify the best cut-off point for FXIII activity to distinguish between low and high risk of major bleeding in a mixed medical and surgical population. Results: Of the 97 patients who experienced bleeding despite a normal coagulation test, 43.2% had FXIII activity <70%. FXIII activity was significantly lower in surgical patients and patients admitted to the intensive care unit (ICU). Low FXIII activity was significantly associated with long ICU stays and a high incidence of major bleeding. Conclusions: Acquired FXIII deficiency is associated with high morbidity. The hemostatic level of FXIII in the setting of acquired FXIII deficiency might be above 30%.

scholarly journals How to Assess Founder Effect in Patients with Congenital Factor XIII Deficiency

2020 ◽  
Author(s):  
Hojat Shahraki ◽  
Akbar Dorgalaleh ◽  
Majid Fathi ◽  
Shadi Tabibian ◽  
Shahram Teimourian ◽  
...  
Keyword(s):  
Genetic Markers ◽  
Founder Effect ◽  
Factor Xiii ◽  
Haplotype Analysis ◽  
Recurrent Miscarriage ◽  
Clinical Manifestations ◽  
Nucleotide Polymorphisms ◽  
High Incidence ◽  
Fxiii Deficiency ◽  
Congenital Factor

Congenital factor XIII (FXIII) deficiency is an extremely rare bleeding disorder (RBD) with estimated prevalence of one per 2 million in the general population. The disorder causes different clinical manifestations such as intracranial hemorrhage (ICH), recurrent miscarriage, umbilical cord bleeding, etc. High incidence of the disorder might be due to founder effect. To assess founder effect, haplotype analysis is an important step. For this purpose, suitable and reliable genetic markers such as microsatellites (Hum FXIIIA01 and HumFXIIIA02) and single nucleotide polymorphisms (SNP) are suggested. In the present study we tried to describe evaluation of founder effect in patients with congenital FXIII deficiency via haplotype analysis using suitable genetic markers.  

A Novel Nonsense Mutation of F13A1 Gene Causing Inherited Factor XIII Deficiency in a Chinese Han Family

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 4661-4661
Author(s):  
Dawei Wang ◽  
Liang Tang ◽  
Wei Shi ◽  
Heng Mei ◽  
Rui Yang ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Factor Xiii ◽  
Family Members ◽  
Coagulation Factor ◽  
Maternal Grandmother ◽  
Chinese Han ◽  
Factor Xiii Deficiency ◽  
Fxiii Activity ◽  
Fxiii Deficiency

Abstract Abstract 4661 Introduction: Coagulation factor XIII (FXIII) is a protransglutaminase that has a major role in the final stage of blood coagulation process by forming cross-links between γ-glutamyl and ε-lysine residues of fibrin chains. The plasma FXIII (pFXIII) circulates in plasma as a heterotetramer (FXIII-A2B2) consisting of two catalytic A subunits (FXIII-A2) and two carrier B subunits (FXIII-B2). Inherited FXIII deficiency is a rare autosomal recessive disease with lifelong bleeding. Most cases of FXIII deficiency are heterogeneous due to mutations in the F13A gene. Currently, more than 100 mutations have been reported. Aim: To identify the genetic defect of inherited coagulation factor XIII (FXIII) deficiency in a Chinese Han family. Methods and Results: A 13 year-old patient complained of poor wound healing after operation and had a history of an excessive bleeding from the umbilical cord stump after her birth. The routine laboratory tests are normal. Her bleeding time is more than 15 minutes and fibrin clot was solubilized very quickly in 5mol/L urea, and became insoluble when normal plasma was mixed with her plasma in vitro. Her plasma FXIII activity was zero with the amine incorporation assay and plasma FXIII antigen was also near zero by one-step sandwich ELISA method, the plasma FXIIIA antigen was zero using an indirect competitive ELISA assay. The plasma FXIIIA antigen, FXIII activity and antigen were assayed in all available family members. The testing results of patient’s grandfather and maternal grandmother were within normal range. But the other pedigree members’ results were lower in different level compare with normal ranges. All members of her family had normal coagulation test. All the exons of F13A gene as well as F13B gene and their flanking regions were amplified by PCR for direct sequencing to identify the mutations in the proband. Direct DNA sequencing of all purified amplification products from the patient’s F13A gene demonstrated a homozygous nonsense mutation in exon8 (C to A transversion at nucleotide 98531 which caused Cys327X). And the patient didn’t have the Val34Leu polymorphism. In the pedigree except of the proband, the Cys327X mutation was found in the heterozygous state in all investigated members except for her grandfather and maternal grandmother. A family study revealed that the mutation was inherited from both parents. The identified mutation was validated by PCR-RFLP technique in the family members and healthy people. Restriction enzyme analysis of amplified exon 8 DNA fragment confirmed that the patient was homozygous for this mutation. Then the quantitative RT-PCR method was used for studying the mRNA expression level of mutant FXIIIA. And the results indicated that F13A mRNA transcripts in heterozygous mutant were reduced by 25% when compared to transcripts in wild-type one, while the homozygous mutant level of F13A mRNA transcript was nearly zero relative to the normal transcript. Conclusion: We have identified a novel Cys327X nonsense mutation in human FXIIIA gene which we have not found in the FXIII database (www.f13-database.de) or in previous publications.And the identified nonsense mutation is causative for severe factor XIII deficiency with a bleeding disorder. Further, in vitro expression studies of the factor XIII mutation is required to confirm their pathological mechanism. Disclosures: No relevant conflicts of interest to declare.

Relevant bleeding diathesis due to acquired factor XIII deficiency

2013 ◽  
Vol 33 (S 01) ◽  
pp. S50-S54 ◽  
Author(s):  
M. Janning ◽  
K. Holstein ◽  
B. Spath ◽  
C. Schnabel ◽  
P. Bannas ◽  
...  
Keyword(s):  
Factor Xiii ◽  
False Lumen ◽  
Surgical Patients ◽  
Major Surgery ◽  
Severe Bleeding ◽  
Acute Type ◽  
Activity Levels ◽  
Bleeding Tendency ◽  
Limited Information ◽  
Fxiii Deficiency

SummaryAcquired factor XIII (FXIII) deficiency is associated with reduced clot firmness and increased bleeding in patients undergoing major surgery. In contrast, only limited information is available on the haemostatic relevance of acquired FXIII deficiency in non-surgical patients.An 81-year-old patient, who had experienced acute type-A dissection of the aorta eight years earlier, presented with a 3-year history of progressive mucocutaneous and softtissue bleeding. Diagnostic work-up was unremarkable for global coagulation tests, but FXIII and alpha2-antiplasmin were decreased to 33% and 27%, respectively, while plasma D-dimer was elevated to > 35 mg/l. A FXIII inhibitor was excluded by mixing studies. CT scanning revealed a massively elongated and progressively dilated aorta with a false lumen reaching from the left carotid artery to the iliac bifurcation. Bleeding control was achieved by single doses of FXIII at 20-30 IU/ kg body weight and tailored oral tranexamic acid.Acquired FXIII deficiency with activity levels of 30–35% may confer a severe bleeding tendency in non-surgical patients, especially in the context of increased thrombin an fibrin generation.

A Novel 3-Base Pair 1834–1836 AAG-Deletion (Lys570Del) Mutation In Factor XIII A Subunit Associated with Factor XIII Deficiency

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 1412-1412
Author(s):  
Anamika Singh ◽  
A. Koneti Rao
Keyword(s):  
Factor Xiii ◽  
Bleeding Tendency ◽  
Compound Heterozygosity ◽  
Factor Xiii Deficiency ◽  
Catalytic Core ◽  
A Subunit ◽  
A Chain ◽  
The Impact ◽  
Fxiii Activity ◽  
Fxiii Deficiency

Abstract Abstract 1412 Factor XIII is a transglutaminase that cross-links proteins in plasma, vascular matrix, endothelial cells, platelets and monocytes, and plays a role in atherosclerosis, wound healing, and inflammation. Plasma FXIII molecule is a hetero-tetramer consisting of two catalytic A-subunits and two B-subunits that act as carrier molecules. The gene encoding FXIII A subunit comprises of 15 exons spanning 160 kb and the mature protein contains 731 amino acids. FXIII deficiency is a rare autosomal recessive disorder affecting ∼1 in 1–3 million people. It is characterized by bleeding, impaired wound repair and spontaneous abortions. We report studies from a family where two children son (13 yrs) and daughter (11 yrs) have had a lifelong bleeding tendency and spontaneous intracranial hemorrhages. Both parents were asymptomatic and there was no consanguinity. The results of routine laboratory tests, prothrombin time and activated partial thromboplastin time were normal in all subjects. The plasma FXIII activity by a commercially available chromogenic assay was 5% in the son and <3% in the daughter (normal range 57–192%). The FXIII activity in the father and mother were 198% and 74%, respectively. We have identified a novel deletion mutation, which has not been reported so far in FXIII deficiency. Leukocyte RNA was isolated from the buffy-coat and cDNA was obtained by reverse-transcription PCR using SuperScript First-Strand Synthesis System. The amplified products were cloned in pGEM-T vector (Promega) and sequenced on an automated gene-sequencer. Both children and the father have a novel 3 bp AAG-deletion position 1834–1836 nt in FXIII A chain. This mutation causes a lysine 570 deletion in the ß-barrel 1 of Factor XIII A subunit and has not been reported so far. It may lead to protein misfolding resulting in an unstable protein, and low levels of FXIII. The second major change detected in the two siblings was a A/T substitution at position 737 nt causing Tyr204Phe substitution in the two siblings; this was present in the mother in a heterozygous condition. This mutation has been previously reported in FXIII deficiency and linked to increased risk of haemorrhagic stroke in young women and of miscarriages. The compound heterozygosity for Lys570Del and Tyr204Phe substitution observed in both children is the likely cause of Factor XIII deficiency leading to lifelong bleeding condition. In addition to above, the father had Val34Leu polymorphism, previously reported to be associated with resistance to myocardial infarction. This polymorphism is present in ∼20% of white European, 40% of Pima Native American and 13% of South Asian populations. The mother also had a known A/C polymorphism at 1119 nt position for a synonymous Pro332Pro change. We also found 3 other variations in FXIII A chain in this family. The daughter has Glu216Gly and Asp267Asn change in the protein corresponding to alterations at nucleotide 773 (A/G) and 925 (A/G), respectively. The son and mother had a substitution at 1442 nt (T/C) leading to a Leu439Pro change. These variations, Glu216Gly, Asp267Asn and Leu439Pro found in the two children (Leu439Pro also in mother) are present in the catalytic core domain of the Factor XIII A chain. All of the polymorphisms or mutations reported in this study were heterozygous in the studied subjects. FXIII gene mutations and polymorphisms result in a high level of heterogeneity of disease presentation. Other point mutations in the FXIII A catalytic core as well as mutations in ß-barrel 1 region have been described in association with a hemorrhagic state in FXIII deficiency. Our study documents a new 3-bp 1834–1836 nt AAG-deletion (Lys570Del) in association with FXIII deficiency. We suggest that compound heterozygosity for Lys570Del and Tyr204Phe is the cause of FXIII deficiency in our patients. Further structure-function studies will aid in understanding the impact of these amino acid substitutions or deletions on FXIII function and on the associated bleeding diathesis. Disclosures: No relevant conflicts of interest to declare.

Acquired Factor XIII Deficiency in the Inpatient Setting: Clinical Suspicion, Impact and Treatment: Retrospective Case Series

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 1415-1415
Author(s):  
Fernando Chuliber ◽  
Natalia Paola Schutz ◽  
Victoria Otero ◽  
Luis Barrera ◽  
Diana Altuna ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Case Series ◽  
Screening Tests ◽  
Coagulation Cascade ◽  
Inpatient Setting ◽  
Retrospective Case ◽  
Factor Xiii Deficiency ◽  
Spontaneous Bleeding ◽  
Retrospective Case Series ◽  
Fxiii Deficiency

Abstract Introduction: Activated factor XIII (FXIII) stabilizes fibrin clots at the end of the coagulation cascade by bridging fibrin molecules. Disproportionate surgery related bleeding has been reported in association with FXIII deficiency, in patients with normal coagulopathies screening tests, and without a history of previous bleedings. Methods: Retrospective case series. We performed immunological factor XIIIA (FXIIIA) studies in the inpatient setting of the Hospital Italiano de Buenos Aires, between January 2014 and March 2016. FXIIIA below 50% were considered deficient. Patients with suspicion of congenital Factor XIII deficiency or 2 years old or less were excluded. Descriptive statistics were used. Populations were compared with chi-square, Fisher and T test, or Mann Whitney tests with Stata13 software. Results: FXIII was studied in 52 patients; 37 of these (26 females and 11 males) met inclusion and exclusion criteria. Median age was 43 years (range 9-81). Twenty two patients were studied because of disproportionate surgery related bleeding, 11 because of spontaneous bleeding; and 4 not specified. All patients presented normal coagulopathies screening tests, normal Von Willebrand factor and ristocetine cofactor activity and normal platelet function tests. Eleven patients (30%) had FXIIIA less than 50%. Statistically significant differences between groups were found for median drop in hematocrit points [3.5 (IQR 3-10) vs 1.5 (IQR 0-2, p=0.02)] and median number of red cell units transfused [4 (IQR 0-6) vs 0 (0-2), p=0.01]. Differences in rates of minor and major bleedings were not statistically significant. Only one patient of eleven presented FXIII deficiency associated spontaneous bleeding vs 8 out of 20 patients in the postsurgical setting. FXIII concentrate was used in two patients to treat persistent bleeding, resolving in less than 24 hours. Three patients died, none because of bleeding. Five of the 11 patients with FXIII deficiency returned to normal values when FXIII assay was repeated away from acute setting. Discussion: FXIII acquired deficiency is associated with disproportionate bleeding in postsurgical setting in patients without apparent coagulation defects. FXIII deficiency could be underdiagnosed. Patients with FXIII deficiency in our series had more hematocrit drop and more transfusion requirements. We found no association with spontaneous bleeding. Alltough deficiency could be transient, treatment with FXIII concentrate could be useful to manage serious, persistent or life threatening bleedings. Disclosures No relevant conflicts of interest to declare.

scholarly journals Recurrent Hematomas following a Revision Total Hip Arthroplasty in Acquired Coagulation Factor XIII Deficiency

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Yoshinori Takashima ◽  
Shingo Hashimoto ◽  
Tomoyuki Kamenaga ◽  
Masanori Tsubosaka ◽  
Yuichi Kuroda ◽  
...  
Keyword(s):  
Total Hip Arthroplasty ◽  
Hip Arthroplasty ◽  
Factor Xiii ◽  
Coagulation Factor ◽  
Revision Total Hip Arthroplasty ◽  
Total Hip ◽  
Coagulation Profile ◽  
Coagulation Factor Xiii ◽  
Fxiii Activity ◽  
Fxiii Deficiency

Coagulation factor XIII (FXIII) is the final enzyme in the coagulation cascade and plays an important role in catalyzing the intermolecular cross-linking of fibrin polymers. FXIII deficiency is a rare disorder that presents with recurrent soft tissue bleeding. In this case report, we describe a patient with recurrent hematomas, following a revision total hip arthroplasty (THA). A 50-year-old female patient with no past history of bleeding and with a normal perioperative coagulation profile presented with recurrent hip joint hematomas. Her plasma FXIII activity showed a slight decrease (69%). Therefore, the patient was diagnosed with an acquired deficiency and was administered FXIII to correct it. The bleeding did not recur once the FXIII activity had returned to a normal level (76%). At 2 months after the second evacuation procedure, the patient was discharged from the hospital in an ambulatory state. There has been no recurrence of a hematoma since. We managed a rare case of acquired FXIII deficiency, which highlighted that a patient can present with an acquired bleeding disorder despite having a normal coagulation profile. An acquired FXIII deficiency should be suspected in patients with inexplicable, sudden-onset bleeding, as early diagnosis and treatment are important to prevent life-threatening complications.

scholarly journals Effects of factor XIII deficiency on thromboelastography. Thrombelastography with calcium and lysis by addition of streptokinase is more sensitive than solubility tests

2016 ◽  
Vol 8 ◽  
pp. e2016037 ◽  
Author(s):  
Marta E Martinuzzo
Keyword(s):  
Acetic Acid ◽  
Factor Xiii ◽  
Maximum Amplitude ◽  
Clot Lysis ◽  
Thrombin Time ◽  
Spontaneous Bleeding ◽  
A Subunit ◽  
One Year ◽  
Fxiii Deficiency

Background:Homozygous or double heterozygous factor XIII (FXIII) deficiency is characterized by soft tissue hematomas, intracranial and delated spontaneous bleeding. Alterations of thromboelastographic (TEG) parameters in these patients have been reported. The aim of the study was to show results of TEG, TEG Lysis (Lys 60) induced by subthreshold concentrations of streptokinase (SK), and to compare them to the clot solubility studies results in samples of a1 year old girl with homozygous or double heterozygous FXIII deficiency.Materials and Methods:Case: A one year girl with history of bleeding from umbilical cord. During her first year of live several hematomas in soft upper limb tissue after punctures for vaccination and a gluteal hematoma appeared. One additional sample of a heterozygous and three of acquired FXIII deficiency were also evaluated.Materials and Methods: clotting tests, von Willebrand factor (vWF) antigen and activity,  plasma FXIII-A (pFXIII-A) subunit were measured by an immunoturbidimetric assays in a foto-optical coagulometer. Solubility tests were performed with Ca2+-5 M urea and thrombin-2% acetic acid. Basal and post FXIII concentrate infusion samples were studied. TEG was performed with CaCl2 or CaCl2 + SK (3.2 U/mL) in a Thromboelastograph. Results: Prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time, fibrinogen, factor VIIIc, vWF and platelet aggregation were normal. Antigenic pFXIII-A subunit was < 2%. TEG presented a normal reaction time (R), 8 min, prolonged k (14 and11min), low Maximum amplitude (MA), 39 and 52 mm,  and Clot Lysis (Lys60) slightly increased (23 and 30%) at diagnosis and post FXIII concentrate infusion (pFXIII-A= 37%), respectively. In Sample at diagnosis clot solubility was abnormal, 50 and 45 min with Ca-Urea and thrombin-acetic acid, respectively, but normal (>16 hours) 1 day post FXIII infusion. Analysis of FXIII deficient and normal plasma mixtures (< 2 -102% of pFXIII-A), showed that Ca-urea solubility was abnormal at pFXIII-A < 9%, thrombin-acetic acid at pFXIII-A<18%, but TEG MA and elasticity at 23% and Lys60 with SK at pFXIII-A< 40%.Conclusions: TEG parameters MA and elasticity, and Lys 60 in TEG with Ca2+ and in TEG Ca2+ and SK are more sensitive to low levels of pFXIII than solubility tests. The increased Lys60 induced by subthreshold concentration of SK could probably reflect the clot characteristics “in vivo” in many patients with pFXIII levels between 5-40% and could be potentially considered as screening test.

MEASUREMENT OF FACTOR XIII ACTIVITY IN HUMAN PLATELET HOMOGENATE BY A NEW UV-KINETIC METHOD

1987 ◽  
Author(s):  
J Polgár ◽  
Y Hidasi ◽  
A Toth ◽  
L Muszbek
Keyword(s):  
Factor Xiii ◽  
Human Platelet ◽  
Kinetic Method ◽  
Kinetic Assay ◽  
A Subunit ◽  
Incorporation Assay ◽  
Diagnostic Importance ◽  
Fxiii Activity ◽  
Fxiii Deficiency

Factor XIII (FXIIl) of blood coagulation is a zymogen which is converted into an active transglutaminase during the clotting process. Earlier methods used for its determination are cumbersome, laborious, and not suitable for routine laboratory measurements.Most recently we have designed a new simple UV-kinetic assay for the determination of FXIII in the plasma (Muszbek et al., Clin. Chem., 3JL, 35, 1985). The assay is performed on def:j.b-rinated plasma in which FXIII is activated by thrombin and Ca2+. Acetylateddephosphorylated (AD)β-casein and ethylamine are used as substrates and the ammonia released during thereaction is continuously monitored by a NADPH dependent indicator reaction at 340 nm. As the enzymatically active a subunit of FXIII is also present in platelets and monocytes/macrophages we attempted to adapt the above method for the measurement of cellular FXIII activity. Experiments were carried out on Lubrol extract of washed sonicated platelets. It was found that the small amount of fibrinogen present in platelets does not need to be removed and in the blank hirudin used for preventing activation of plasma FXIII should be replaced by EGTA. The concentration of substrates and activators were optimized. The methodwas found linear at least up-to 40 U/l enzyme activity. It had a good reproducibility (optimal conditionvariance was less than 3%) and correlated well with the most commonly used fluorescent amine (dansylcadaverine) incorporation assay. The method was adapted to a centrifugal fast analyser (Baker, Centrifichem). In addition to congenital FXIII deficiency the determination of FXIII in platelets by this new methodmight have a diagnostic importance in haemopoietic diseases with diminished or accelerated platelet production.

Pharmacokinetics and Tolerability of Factor XIII Concentrates Prepared from Human Placenta or Plasma: a Crossover Randomised Study

1995 ◽  
Vol 74 (02) ◽  
pp. 622-625 ◽  
Author(s):  
H H Brackmann ◽  
R Egbring ◽  
A Ferster ◽  
P Fondu ◽  
J M Girardel ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Bleeding Events ◽  
Serious Adverse Events ◽  
Double Blind ◽  
Randomised Study ◽  
The Mean ◽  
Blind Crossover Study ◽  
Double Blind Crossover Study ◽  
Fxiii Activity ◽  
Observation Period

SummaryThe pharmacokinetics and tolerability of factor XIII (FXIII) from plasma were compared with those of FXIII from placenta in a randomised, double-blind, crossover study involving 13 patients with congenital FXIII deficiency. Both FXIII activity and FXIII antigen were monitored. No difference was seen in the mean half-lives of the two preparations (9.3 days and 9.1 days for plasma and placenta FXIII activity, respectively). Response was similar for both preparations, but was slightly greater for FXIII from plasma.Similar results were found for recovery (65% vs 60%). The area under the data completed by extrapolation was significantly higher for FXIII from plasma. No differences between preparations in terms of efficacy or tolerability were observed. It can be concluded that treatment with FXIII concentrate from plasma is as efficient as with FXIII concentrate from placenta in terms of recovery and half-life. Both preparations were equivalent in terms of safety during the observation period. With the administration of monthly injections of approximately 30 U/kg serious bleeding events were prevented and no other serious adverse events occurred.

Hallazgos oftalmológicos en enfermedad de Fabry: relación de su severidad en una familia mexicana

2019 ◽  
Vol 1 (1) ◽  
pp. 43-49
Author(s):  
Araceli Borja Borja ◽  
Gabriela Salas Pérez ◽  
Pablo Radillo Díaz
Keyword(s):  
Premature Mortality ◽  
Retinal Vessel ◽  
Multiple Organ ◽  
High Morbidity ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Non Invasive ◽  
High Incidence ◽  
Cornea Verticillata ◽  
Gla Gene

Introduction. Fabry disease (FD) is a lysosomal storage disorder associated with multiple organ dysfunction which eventually leads to high morbidity and premature mortality. Ophthalmologic findings in FD are very common and have been described extensively. We describe the ophthalmologic findings of a family diagnosed with FD at Hospital de Especialidades de Puebla and establish their relationship with other phenotypic findings. Cases Presentation. A renal, cardiac, audiological, neurological, and ophthalmologic evaluation was carried out. The disease was confirmed by GLA gene sequencing. The ophthalmologic assessment was focused on the changes described in the literature, as well as the search for other anomalies possibly related to the disease. All the patients had the c.260delA (P.Glu87Glyfs*34) mutation in the GLA gene. The main ophthalmologic finding in our patients was cornea verticillata (in 100 % of the female patients). Other ophthalmologic manifestations were dry eye, retinal vessel tortuosity, ametropia, chromatic vision disorders, ocular annexes, eyelids, and conjuntiva disorders. Conclusions. Most of the assessed patients showed ophthalmologic changes, consistent with the results described in the literature. A remarkable finding in the sample was the high incidence of changes in women, in whom one would not expect the disease to be as severe because they are heterozygous. Ophthalmologic abnormalities in FD require deeper evaluation to establish their possible use as markers of disease progression and/or enzyme replacement therapy initiation due to the benefit of the non-invasive nature of ophthalmologic evaluations.

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