Hemoglobin sickle cell disease is one of the most frequent hemoglobinopathies. Surprisingly, few studies have been dedicated to this disease, currently considered to be a mild variant of homozygous ...sickle cell disease. The aim of this study was to update our knowledge about hemoglobin sickle cell disease.
The study involved a single center series of 179 patients. Clinical and biological data were collected with special attention to the assessment of pulmonary arterial hypertension and nephropathy.
Hemoglobin sickle cell diagnosis was delayed and performed in adulthood in 29% of cases. Prevalence of hospitalized painful vasoocclusive crisis, acute chest syndrome and priapism was 36%, 20% and 20%, respectively. The most common chronic organ complications were retinopathy and sensorineural otological disorders in 70% and 29% of cases. Indeed, prevalence of complications reported in homozygous sickle cell disease, such as nephropathy, suspicion of pulmonary hypertension, strokes and leg ulcers was rather low (13%, 4% and 1%, respectively). Phlebotomy performed in 36% of this population (baseline hemoglobin 11.5 g/dL) prevented recurrence of acute events in 71% of cases.
Our data suggest that hemoglobin sickle cell disease should not be considered as a mild form of sickle cell anemia but as a separate disease with a special emphasis on viscosity-associated otological and ophthalmological disorders, and with a low prevalence of vasculopathy (strokes, pulmonary hypertension, ulcers and nephropathy). Phlebotomy was useful in reducing acute events and a wider use of this procedure should be further investigated.
Sickle cell disease is a systemic genetic disorder, causing many functional and tissular modifications. As the prevalence of patients with sickle cell disease increases gradually in France, every ...physician can be potentially involved in the care of these patients. Complications of sickle cell disease can be acute and chronic. Pain is the main symptom and should be treated quickly and aggressively. In order to reduce the fatality rate associated with acute chest syndrome, it must be detected and treated early. Chronic complications are one of the main concerns in adults and should be identified as early as possible in order to prevent end organ damage. Many organs can be involved, including bones, kidneys, eyes, lungs, etc. The indications for a specific treatment (blood transfusion or hydroxyurea) should be regularly discussed. Coordinated health care should be carefully organized to allow a regular follow-up near the living place and access to specialized departments. We present in this article the French guidelines for the sickle cell disease management in adulthood.
Impairment of autonomic nervous system seems underestimated in SCA.
To assess the prevalence of sudomotor dysfunction in SCA patients, and to identify relevant associated clinical/biological ...phenotypes.
A total of 90 adult homozygous SCA patients–exclusively sub-Saharan-African-native–referred to our centre for a routine-follow-up were included. Clinical and biological data were collected as well as electrochemical skin conduction (ESC) measurements using Sudoscan®. A total of 34 healthy subjects with the same ethnic origin and matched for age, gender and BMI, were enrolled for ESC comparison.
Among SCA patients, median age was 29.3 years, 51% were males. Neither overweight nor hypertension was reported. Mean Haemoglobin, reticulocyte-count, bilirubin and lactate-dehydrogenase was respectively of 8.9±1.5g/dL, 242±122,109/L, 49.5±34.7μmol/L and 467±169IU/L. Percentage of glomerular hyperfiltration, micro and macroalbuminuria was respectively of 31.4%, 31% and 26.2%. ESC values for both hands (HESC) and feet (FESC) were significantly reduced in SCA patients compared to controls (P<0.0001), with ESC measures below normal values in 61% of patients (HESC<60μSiemens and/or FESC<70μSiemens). Among SCA population, FESC values were negatively associated with age (P<0.0001) and albumin-creatinine-ratio (P=0.02), and positively with Haemoglobin (P=0.03) and estimated-glomerular-filtration-rate (P<0.0001). However, after adjustment with multivariate regression, FESC remained associated with only age and Haemoglobin (b=−1.14, P=0.0001 and b=3.6, P=0.03 respectively).
Sudomotor dysfunction is an underdiagnosed frequent event in SCA patients. Its quantification could be of potential interest to assess the magnitude of peripheral autonomic impairment and/or microvascular lesions.
Purpose
Previous clinical trials suggested that inhaled nitric oxide (iNO) could have beneficial effects in sickle cell disease (SCD) patients with acute chest syndrome (ACS).
Methods
To determine ...whether iNO reduces treatment failure rate in adult patients with ACS, we conducted a prospective, double-blind, randomized, placebo-controlled clinical trial. iNO (80 ppm,
N
= 50) gas or inhaled nitrogen placebo (
N
= 50) was delivered for 3 days. The primary end point was the number of patients with treatment failure at day 3, defined as any one of the following: (1) death from any cause, (2) need for endotracheal intubation, (3) decrease of PaO
2
/FiO
2
≥ 15 mmHg between days 1 and 3, (4) augmented therapy defined as new transfusion or phlebotomy.
Results
The two groups did not differ in age, gender, genotype, or baseline characteristics and biological parameters. iNO was well tolerated, although a transient decrease in nitric oxide concentration was mandated in one patient. There was no significant difference in the primary end point between the iNO and placebo groups 23 (46 %) and 29 (58 %); odds ratio (OR), 0.8; 95 % CI, 0.54–1.16;
p
= 0.23. A post hoc analysis of the 45 patients with hypoxemia showed that those in the iNO group were less likely to experience treatment failure at day 3 7 (33.3 %) vs 18 (72 %); OR = 0.19; 95 % CI, 0.06–0.68;
p
= 0.009.
Conclusions
iNO did not reduce the rate of treatment failure in adult SCD patients with mild to moderate ACS. Future trials should target more severely ill ACS patients with hypoxemia.
Clinical trial registration
NCT00748423.
•Intracranial aneurysms are diagnosed in up to 9% of patients with sickle cell anemia, while consensual approaches to treatment of unruptured intracranial aneurysms in this population are still ...lacking.•A standardized hematological preparation protocol was undertaken before each aneurysm treatment.•Overall, endovascular and surgical treatment seems safe and effective: successful treatment was documented in 95% of aneurysms, while all 6 post-procedural complications were transitory or reversible, without residual deficits at one-year follow-up.•We suggest using stenting as a last therapeutic resort due to the potential high rate of ischemic complications in this population.
Intracranial aneurysms are frequent in patients with sickle cell anemia, while subarachnoid hemorrhage is a major cause of death and disability in young adult patients. Several characteristics, such as younger age and smaller size at rupture, may incline therapeutic decision towards exclusion treatments. Clinical guidelines on treatment of unruptured intracranial aneurysms in this population are still missing. We aimed to assess the safety and efficacy of the treatment of unruptured intracranial aneurysm in patients with sickle cell anemia, using an adapted hematological preparation regimen.
Adult patients with sickle cell anemia and treated unruptured aneurysms by endovascular therapy or neurosurgery were included in this retrospective cohort study. Treatment decision was reached after multi-disciplinary assessment. A pre-operative blood transfusion protocol was undertaken targeting a HbS below 30%. Demographic data, hematological preparation parameters and clinical and radiological outcomes were documented.
Twenty-five procedures were performed in 18 patients encompassing 19 aneurysms treated by embolization and 6 by surgery. Median age at treatment was 34 years-old and median aneurysm dome size was 4.4 mm. Immediate aneurysm exclusion rate was 85.7% after endovascular therapy and 100% after neurosurgery. Median follow-up was 6 months, with all patients being asymptomatic at last follow-up. Two transitory ischemic neurological deficits, as well as four cases of iodine-induced encephalopathy were identified after embolization. No complication occurred after surgery.
Endovascular therapy by coiling and neurosurgical treatment of unruptured intracranial aneurysms appears to be safe in patients with sickle cell anemia and should be considered given the specific hemorrhagic risk observed in this population. A rigorous hematological preparation, associated with a dedicated peri‑operative protocol and an adequate therapeutic strategy are essential prerequisites.
Summary
Background
Leg ulcers (LUs) are a chronic and severe complication of sickle cell disease (SCD). A prospective study in patients with SCD to identify factors associated with complete healing ...and recurrence of LUs is lacking.
Objectives
To determine clinical and biological factors associated with SCD‐LU complete healing and recurrence.
Methods
This prospective, observational cohort study was conducted at two adult SCD referral‐centre sites (2009–2015) and included 98 consecutive patients with at least one LU lasting ≥ 2 weeks. The primary end points compared patients with healed vs. nonhealed LUs at week 24, and patients with vs. without recurrence during follow‐up.
Results
The median (interquartile range) LU area, duration and follow‐up were, respectively, 6·2 cm2 (3–12·8), 9 weeks (4–26) and 65·8 weeks (23·8–122·1). At week 24, LUs were healed in 47% of patients, while 49% of LUs recurred. Univariate analyses identified inclusion LU area < 8 cm2 (82% vs. 35%; P < 0·001), inclusion LU duration < 9 weeks (65% vs. 35%; P = 0·0013) and high median fetal haemoglobin level (P = 0·008) as being significantly associated with complete healing at week 24, and low lactate dehydrogenase level (P = 0·038) as being associated with recurrence. Multivariate analyses retained LU area < 8 cm2 (odds ratio 6·73, 95% confidence interval 2·35–19. 31; P < 0·001) and < 9 weeks’ duration (OR 3·19, 95% confidence interval 1·16–8·76; P = 0·024) as being independently associated with healing at week 24. Factors independently associated with recurrence could not be identified.
Conclusions
SCD‐LU complete healing is independently associated with the clinical characteristics of LUs rather than the clinical or biological characteristics of SCD.
What's already known about this topic?
Factors predictive of sickle cell disease (SCD)‐related leg‐ulcer (LU) healing are not known, although their identification would seem to be essential for therapeutic decisions and clinical research.
What does this study add?
At week 24, LUs were completely healed in 47% of the patients, with 15 weeks being the median time to healing.
Healing prognosis was independently linked to LU area < 8 cm2 and duration < 9 weeks, but not to SCD characteristics.
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Linked Comment: Aractingi. Br J Dermatol 2017; 177:15–16
Plain language summary available online
Summary
Little is known about the natural history of Hepatitis E virus (HEV) infection in immunocompetent individuals. The prevalence, the course of infection and the occurrence of transmission by ...transfusion were investigated in multitransfused immunocompetent patients/blood donor pairs included in a longitudinal sample repository collection and followed up between 1988 and 2010. Ninety‐eight subjects aged 6–89 years and suffering from acquired haemoglobinopathies were tested for HEV markers (IgM, IgG and RNA) in serial samples collected every 2 or 3 years. Eighteen patients (18.4%) were positive for HEV‐IgG at baseline with a prevalence increasing from 12.5% below 26 years to 32% above 56 years. Nine patients remained IgG positive along the study and nine lost their antibodies after a mean follow‐up of 7.4 years (1–22 years). One seropositive patient showed an increase of IgG level and RNA‐HEV reappearance 1 year after inclusion, suggesting a reinfection and one seroconversion, probably acquired through blood transfusion was observed. This first longitudinal study including immunocompetent individuals confirms that HEV infection is common in Western Europe and that transfusion transmission occurs probably less frequently than expected. In addition, seroreversion and reinfection seem to be common. This suggests that the anti‐HEV may not persist overtime naturally. However, repeat exposure to the virus related to the high prevalence of HEV infection may result in a sustainable specific IgG response.
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