Necrobiosis Lipoidica in a Patient with β-Thalassemia Major: A Case Report and Review of the Literature

Vetsiou, Evaggelia; Mpouras, Vasileios; Nikolaidou, Christina; Klonizakis, Philippos; Mandala, Evdokia; Vamvakis, Kyriakos; Psarras, Kyriakos; Vlachaki, Efthymia

doi:10.1080/03630269.2020.1783287

Cited by 3 publications

(3 citation statements)

References 10 publications

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“…Secondary complications of TED are expected. Diabetes mellitus (DM) is associated with well-known infectious and dermatologic complications, partly from anomalies of the cardio–metabolic profile [ 44 ]. Hypogonadism, either central or of gonadal causes, is manifested as pubertal delay, sexual dysfunction, fertility disturbances in adult females and males, as well as reduced bone mineral density (BMD) [ 24 , 28 , 29 ].…”

Section: Thalassemic Endocrine Diseasementioning

confidence: 99%

“…Since the patients with intermediate BTH have different clinical presentations, EDs vary, and a subgroup of subjects was similar to patients with major BTH with regards to the profile of EDs [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 ]. Overall, short stature affects both children and adults; GH/IG...…”

Section: Thalassemic Endocrine Diseasementioning

confidence: 99%

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New Entity—Thalassemic Endocrine Disease: Major Beta-Thalassemia and Endocrine Involvement

et al. 2022

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Beta-thalassemia (BTH), a recessively inherited haemoglobin (Hb) disorder, causes iron overload (IO), extra-medullary haematopoiesis and bone marrow expansion with major clinical impact. The main objective of this review is to address endocrine components (including aspects of reproductive health as fertility potential and pregnancy outcome) in major beta-thalassemia patients, a complex panel known as thalassemic endocrine disease (TED). We included English, full-text articles based on PubMed research (January 2017–June 2022). TED includes hypogonadism (hypoGn), anomalies of GH/IGF1 axes with growth retardation, hypothyroidism (hypoT), hypoparathyroidism (hypoPT), glucose profile anomalies, adrenal insufficiency, reduced bone mineral density (BMD), and deterioration of microarchitecture with increased fracture risk (FR). The prevalence of each ED varies with population, criteria of definition, etc. At least one out of every three to four children below the age of 12 y have one ED. ED correlates with ferritin and poor compliance to therapy, but not all studies agree. Up to 86% of the adult population is affected by an ED. Age is a positive linear predictor for ED. Low IGF1 is found in 95% of the population with GH deficiency (GHD), but also in 93.6% of persons without GHD. HypoT is mostly pituitary-related; it is not clinically manifested in the majority of cases, hence the importance of TSH/FT4 screening. HypoT is found at any age, with the prevalence varying between 8.3% and 30%. Non-compliance to chelation increases the risk of hypoT, yet not all studies confirmed the correlation with chelation history (reversible hypoT under chelation is reported). The pitfalls of TSH interpretation due to hypophyseal IO should be taken into consideration. HypoPT prevalence varies from 6.66% (below the age of 12) to a maximum of 40% (depending on the study). Serum ferritin might act as a stimulator of FGF23. Associated hypocalcaemia transitions from asymptomatic to severe manifestations. HypoPT is mostly found in association with growth retardation and hypoGn. TED-associated adrenal dysfunction is typically mild; an index of suspicion should be considered due to potential life-threatening complications. Periodic check-up by ACTH stimulation test is advised. Adrenal insufficiency/hypocortisolism status is the rarest ED (but some reported a prevalence of up to one third of patients). Significantly, many studies did not routinely perform a dynamic test. Atypical EM sites might be found in adrenals, mimicking an incidentaloma. Between 7.5–10% of children with major BTH have DM; screening starts by the age of 10, and ferritin correlated with glycaemia. Larger studies found DM in up to 34%of cases. Many studies do not take into consideration IGF, IGT, or do not routinely include OGTT. Glucose anomalies are time dependent. Emerging new markers represent promising alternatives, such as insulin secretion-sensitivity index-2. The pitfalls of glucose profile interpretation include the levels of HbA1c and the particular risk of gestational DM. Thalassemia bone disease (TBD) is related to hypoGn-related osteoporosis, renal function anomalies, DM, GHD, malnutrition, chronic hypoxia-induced calcium malabsorption, and transplant-associated protocols. Low BMD was identified in both paediatric and adult population; the prevalence of osteoporosis/TBD in major BTH patients varies; the highest rate is 40–72% depending on age, studied parameters, DXA evaluation and corrections, and screening thoracic–lumbar spine X-ray. Lower TBS and abnormal dynamics of bone turnover markers are reported. The largest cohorts on transfusion-dependent BTH identified the prevalence of hypoGn to be between 44.5% and 82%. Ferritin positively correlates with pubertal delay, and negatively with pituitary volume. Some authors appreciate hypoGn as the most frequent ED below the age of 15. Long-term untreated hypoGn induces a high cardiovascular risk and increased FR. Hormonal replacement therapy is necessary in addition to specific BTH therapy. Infertility underlines TED-related hormonal elements (primary and secondary hypoGn) and IO-induced gonadal toxicity. Males with BTH are at risk of infertility due to germ cell loss. IO induces an excessive amount of free radicals which impair the quality of sperm, iron being a local catalyser of ROS. Adequate chelation might improve fertility issues. Due to the advances in current therapies, the reproductive health of females with major BTH is improving; a low level of statistical significance reflects the pregnancy status in major BTH (limited data on spontaneous pregnancies and growing evidence of the induction of ovulation/assisted reproductive techniques). Pregnancy outcome also depends on TED approach, including factors such as DM control, adequate replacement of hypoT and hypoPT, and vitamin D supplementation for bone health. Asymptomatic TED elements such as subclinical hypothyroidism or IFG/IGT might become overt during pregnancy. Endocrine glands are particularly sensitive to iron deposits, hence TED includes a complicated puzzle of EDs which massively impacts on the overall picture, including the quality of life in major BTH. The BTH prognostic has registered progress in the last decades due to modern therapy, but the medical and social burden remains elevated. Genetic counselling represents a major step in approaching TH individuals, including as part of the pre-conception assessment. A multidisciplinary surveillance team is mandatory.

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Section: Thalassemic Endocrine Diseasementioning

confidence: 99%

Section: Thalassemic Endocrine Diseasementioning

confidence: 99%

New Entity—Thalassemic Endocrine Disease: Major Beta-Thalassemia and Endocrine Involvement

et al. 2022

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“…This results in iron overload, and multiple organ dysfunctions such as hepatic impairment, heart failure, glands siderosis, diabetes mellitus (DM) and skin hyperpigmentation. Thus, iron chelation therapy is mandatory to avoid the adverse events of iron overload [5][6].…”

Section: Introductionmentioning

confidence: 99%

Dermatopathological Drug Reaction in Thalassemia Major: A Case Report and a Brief Review

Shirkavand

Ataie‐Fashtami

Azarkeivan³

et al. 2022

Preprint

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Background: Thalassemia comprises a group of hereditary hemoglobinopathies. Thalassemia major presents with anemia within the first two years of life. These patients require frequent long-life blood transfusions for survival, leading to iron deposition in vital organs as related complications. The prognosis of Thalassemia major has improved because of the availability of iron‑chelating agents. Oral iron chelators are the mainstay of the chelation regimen. Deferasirox is a new‑generation oral iron chelator for daily usage. This case was novel for the severe, generalized dermatopathological drug reaction due to the generic form of deferasirox.Case presentation: This is a case presentation of adverse reaction in a TM patient who received oral deferasirox for the first time after years of Deferoxamine injection without any adverse reaction. There were generalized maculopapular, deep red- blue partly purpuric itchy skin rashes all over the body. The histopathological biopsy showed superficial perivascular or dermatitis with low-grade vasculopathy feature, few eosinophils, and mild psoriasiform-spoaglotic-lichenoid epidermal reaction more compatible with a clinical diagnosis of Drug ReactionConclusions: In the case of intrinsic characteristics, it is wiser and more cautious to initiate the original Deferasirox brand for the patients who are going to go under the oral chelating regimen and increase the daily dose more smoothly to cause patient Deferasirox through even three to four weeks for better tolerance.

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Do Egyptian children with beta-thalassemia major have specific cutaneous manifestations? A cross-sectional study

Badran

Embaby

Farag

et al. 2023

Egyptian Journal of Dermatology and Venereology

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Background A wide continuum of cutaneous manifestations might accompany blood diseases and hemoglobinopathies, especially β-thalassemia. In this situation, cutaneous manifestations occur due to both hemoglobin disorder and treatment complications. These manifestations are usually neglected and frequently underdiagnosed among those patients. Aim To study the cutaneous manifestations in Egyptian children with β-thalassemia to minimize its subsequent complications. Furthermore, we aimed to analyze their relations to duration of disease and frequency of blood transfusions and other disease parameters. Patients and methods This was a cross-sectional study that included 158 patients with β-thalassemia major. All patients were subjected to detailed history, clinical examination, and laboratory investigations, namely, serum ferritin and hemoglobin level. All patients were subjected to meticulous dermatological examination by an experienced dermatologist to evaluate cutaneous manifestations. The data were analyzed using Student t test, Mann–Whitney U test, χ 2 test, and Fisher exact test. Results Xerosis was the commonest encountered cutaneous change (present in 61% of patients), followed by hyperhidrosis (30%), hyperpigmentation (28%), pruritus and pityriasis alba (25%), urticaria (22%), and idiopathic guttate hypomelanosis, scars, ephelides, contact dermatitis, discoid eczema, nail disorders, melasma, tinea, alopecia areata, and warts in descending order. Statistically significant relations were present between the presence of some cutaneous manifestations and disease duration. Conclusion Cutaneous manifestations are common among Egyptian children with β-thalassemia major. Both xerosis and hyperhidrosis are the commonest cutaneous signs in those patients. Some of those cutaneous manifestations are correlated with disease duration and frequency of blood transfusions.

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Necrobiosis Lipoidica in a Patient with β-Thalassemia Major: A Case Report and Review of the Literature

Cited by 3 publications

References 10 publications

New Entity—Thalassemic Endocrine Disease: Major Beta-Thalassemia and Endocrine Involvement

New Entity—Thalassemic Endocrine Disease: Major Beta-Thalassemia and Endocrine Involvement

Dermatopathological Drug Reaction in Thalassemia Major: A Case Report and a Brief Review

Do Egyptian children with beta-thalassemia major have specific cutaneous manifestations? A cross-sectional study

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