Diagnóstico y tratamiento del lipedema en España. Resultados de encuesta online / Diagnosis and treatment of lipedema in Spain. Results of an online survey

Introducción: El lipedema es el depósito de tejido graso doloroso fundamentalmente en miembros inferiores. Afecta casi siempre a mujeres, y está infradiagnosticado e infratratado. El objetivo del estudio es describir las características del diagnóstico y los tipos de tratamientos realizados por los pacientes con lipedema en España. Material y métodos: Estudio descriptivo transversal mediante encuesta online anónima realizada entre noviembre-diciembre 2019. Se calculó el tamaño muestral mínimo para un nivel de confianza del 95% y margen de error del 5%. Se recogieron las variables sociodemográficas (edad, sexo y comunidad de residencia), aspectos diagnósticos y la mejoría percibida con diferentes opciones de tratamiento. Resultados: Se obtuvieron 463 respuestas válidas. La edad media de inicio de la sintomatología fue de 18,2 años (DE: 9,0). El 69% de los pacientes comenzaron con clínica entre los 10-19 años. Transcurrieron 19,9 años (DE: 10,1) desde el inicio de la clínica, y se necesitaron 4,9 visitas médicas (DE: 3,3) para obtener un diagnóstico. El diagnóstico se realizó con más frecuencia en la medicina privada por cirujanos. El 78,4% de los pacientes probaron, al menos, 3 tipos diferentes de tratamientos. La pérdida de peso fue el tratamiento más utilizado y las prendas de compresión la opción percibida como más efectiva. Un 34% de los pacientes tienen acceso a la prescripción de prendas de compresión. Conclusiones: Actualmente el lipedema carece de un tratamiento estandarizado, y las diferentes terapias realizadas no son percibidas como satisfactorias por los pacientes. Es necesario mejorar su conocimiento para obtener un diagnóstico temprano y proporcionar a los pacientes tratamientos adecuados.(AU)

Introduction: Lipedema is a chronic and progressive disease. Most studies agree that it is underdiagnosed and undertreated. The aim of this study was to identify the diagnostic characteristics and types of treatment for lipedema in the Spanish population. Material and methods: A cross-sectional descriptive study was carried out through an anonymous 10-item online survey in November- December 2019. The minimum sample size was calculated for a 95% confidence level and 5% margin of error. Information was collected on sociodemographic variables (age, sex, place of residence), diagnostic characteristics and perceived improvement with distinct treatment options. Results: A total of 463 valid responses were obtained. The mean age at first manifestation was 18.2 (SD: 9.0) years. Onset occurred between the ages of 10 and 19 years in 69% of the patients. It took an average of 19.9 (SD: 10.1) years to receive a diagnosis and 4.9 medical visits. Diagnosis was most frequently made in private clinics by surgeons. Most patients (78.4%) had tried at least three different types of treatment. Weight loss was the most frequent treatment (92%) and compression garments were perceived to be the most effective. Only 34% of respondents had access to financing for compression garments. Conclusions: Currently, there is no standard treatment for lipedema and patients perceive current treatments to be unsatisfactory. Better knowledge of this entity is needed to allow early diagnosis and provide adequate treatment.(AU)

Body fat, cardiovascular risk factors and brain structure in school-age children.

BACKGROUND: In adults, cardiovascular risk factors are known to be associated with brain health. We hypothesized that these associations are already present at school-age. We examined the associations of adverse body fat measures and cardiovascular risk factors with brain structure, including volumetric measures and white matter microstructure, in 10-year-old children. METHODS: We performed a cross-sectional analysis in a population-based prospective cohort study in Rotterdam, the Netherlands. Analyses were based on 3098 children aged 10 years with neuroimaging data and at least one measurement of body fat and cardiovascular risk factors. Body fat measures included body mass index (BMI), fat mass index and android fat mass percentage obtained by Dual-energy X-ray absorptiometry. Cardiovascular risk factors included blood pressure, and serum glucose, insulin and lipids blood concentrations. Structural neuroimaging, including global and regional brain volumes, was quantified by magnetic resonance imaging. DTI was used to assess white matter microstructure, including global fractional anisotropy (FA) and mean diffusivity (MD). RESULTS: As compared to children with a normal weight, those with underweight had a smaller total brain and white matter volumes (differences -18.10 (95% Confidence Interval (CI) -30.97,-5.22) cm3, -10.64 (95% CI -16.82,-4.47) cm3, respectively). In contrast, one SDS (Standard Deviation Score) increase in fat mass index was associated with a smaller gray matter volume (differences -3.48 (95% CI -16.82, -4.47) cm3). Also, one SDS increase in android fat mass percentage was associated with lower white matter diffusivity (difference -0.06 (95% CI -0.10, -0.02) SDS). None of the other cardiovascular risk factors were associated with any of the brain outcomes. CONCLUSIONS: Body fat measures, but not other cardiovascular risk factors, were associated with structural neuroimaging outcomes in school-aged children. Prospective studies are needed to assess causality, direction and long-term consequences of the associations.

Madelung's disease in a non-alcoholic Ethiopian male patient mistaken for obesity: a case report.

BACKGROUND: Madelung's disease (MD) is a rare disorder of fat storage characterized by the presence of diffuse, symmetrical deposition of subcutaneous fat around the neck, shoulder, arm, trunk and thigh. Although its cause is not fully understood, this benign condition is commonly presented among adult males with Mediterranean origin and history of alcohol abuse. Patients often presents with compression of vital structures, cosmetic disfigurement and associated psychosocial problems and systemic comorbidities. It is often under-recognized by physicians, possibly due to obliviousness of the condition and often misdiagnosed as obesity. CASE PRESENTATION: We present a 65-year-old non-alcoholic black Ethiopian man, presented with a slowly growing body fat in his trunk and proximal limbs associated by multiple joint and back pain which got worse recently. He denied any history of chronic alcohol use. On examination, huge, bilateral, non-tender, soft, globular masses in his torso, shoulder, arm and thigh with bilateral breast enlargement. On investigation his biochemical profile was normal except hyperuricemia (10.6 mg/dl). Imaging of the cervical and lumbar vertebrae showed excess subcutaneous fat depositions with degenerative disc disease. Biopsy from the mass revealed non-encapsulated lipoma and he was diagnosed with type II MD. We treated his pain with supportive therapy and discharged in stable condition. The patient deferred surgical treatment. CONCLUSIONS: Madelung's disease is often reported among white adult males with chronic alcoholism. However, our case reported a black man without the typical risk factor which was misdiagnosed as obesity. Hence, clinicians should be aware of MD and need to consider it in their differential diagnosis when encountered with a patient having progressive centripetal fat deposition with or without a history of alcoholism and systemic comorbidities. As early detection of this disorder helps to avoid diagnostic delays and prevent complications through timely interventions which will in turn improves patient quality of life.

Muscle fat content is strongly associated with NASH: A longitudinal study in patients with morbid obesity.

BACKGROUND & AIMS: Studies exploring the relationship between muscle fat content and non-alcoholic fatty liver disease (NAFLD) are scarce. Herein, we aimed to evaluate the association of muscle mass and fatty infiltration with biopsy-assessed NAFLD in patients with obesity. METHODS: At inclusion (n = 184) and 12 months after a dietary intervention (n = 15) or bariatric surgery (n = 24), we evaluated NAFLD by liver biopsy, and skeletal muscle mass index (SMI) by CT (CT-SMI) or bioelectrical impedance analysis (BIA-SMI). We developed an index to evaluate absolute fat content in muscle (skeletal muscle fat index [SMFI]) from CT-based psoas muscle density (SMFIPsoas). RESULTS: Muscle mass was higher in patients with NAFLD than in those without (CT-SMI 56.8 ± 9.9 vs. 47.4 ± 6.5 cm2/m2, p <0.0001). There was no association between sarcopenia and non-alcoholic steatohepatitis (NASH). SMFIPsoas was higher in NASH ≥F2 and early NASH F0-1 than in NAFL (78.5 ± 23.6 and 73.1 ± 15.6 vs. 61.2 ± 12.6, p <0.001). A 1-point change in the score for any of the individual cardinal NASH features (i.e. steatosis, inflammation or ballooning) was associated with an increase in SMFIPsoas (all p <0.05). The association between SMFIPsoas and NASH was highly significant even after adjustment for multiple confounders (all p <0.025). After intervention (n = 39), NASH improvement, defined by NAFLD activity score <3 or a 2-point score reduction, was achieved in more than 75% of patients (n = 25 or n = 27, respectively) that had pre-established NASH at inclusion (n = 32) and was associated with a significant decrease in SMFIPsoas (p <0.001). Strikingly, all patients who had ≥11% reduction in SMFIPsoas achieved NASH improvement (14/14, p <0.05). CONCLUSIONS: Muscle fat content, but not muscle mass, is strongly and independently associated with NASH. All individuals who achieved a ≥11% decrease in SMFIPsoas after intervention improved their NASH. These data indicate that muscle fatty infiltration could be a potential marker for (and perhaps a pathophysiological contributor to) NASH. LAY SUMMARY: The fat content in skeletal muscles is highly reflective of the severity of non-alcoholic fatty liver disease (NAFLD) in patients with morbid obesity. In particular, muscle fat content is strongly associated with non-alcoholic steatohepatitis (NASH) and decreases upon NASH improvement. These data indicate that muscle fatty infiltration could be a marker and possible pathophysiological contributor to NASH.

Child Body Fat and Body Mass Index: Which Determinants are Most Important?

The purpose of this study was to examine child and parent determinants of children's body fat percentage (BF%) along with their body mass index percentile (BMIp). Children's BF% and BMIp auger lifelong health risks when elevated, and one in five children are affected. Participants (N = 135) included 62% female children; 50.7% Caucasian, 31.7% Hispanic, and 8.5% African American. Children were aged 9-15 years (2% underweight, 47.9% normal weight, 19.7% overweight, and 24.6% obese). Parent BMI average was 30.67 (1.4% underweight, 20.4% normal weight, 23.9% overweight, 40% obese, and 7% extreme obesity); 77.5% of the participating parents were mothers. Following multiple imputations, path analyses were conducted of child and parent determinants of children's BF% and BMIp. Children's BF% and BMIp were related to parents' concern about overweight and children's perception of that concern. For children of overweight or obese parents, who are at highest risk for obesity, assessing the parents' concern is the highest priority.

Factors Associated With Low Lean Mass in Early Rheumatoid Arthritis: A Cross- Sectional Study.

Background and Objectives: The aim of the study was to evaluate body composition (BC) of rheumatoid arthritis (RA) patients at disease onset compared to population controls focusing on the associations between low lean mass and disease specific parameters, nutritional factors and physical activity. Materials and Methods: 91 patients with early rheumatoid arthritis (ERA) (72% female) and 328 control subjects (54% female) were studied. BC- lean and fat mass parameters were measured with a Lunar Prodigy Dual Energy X-Ray Absorptiometry (DXA) machine. The prevalence, age and gender adjusted odds ratios of having low lean mass and overfat, associations between nutrition, physical activity, and ERA disease specific parameters and the presence of low lean mass were evaluated. Results: We found that the BC of patients with recent onset RA differs from control subjects-ERA patients had a higher mean body fat percentage (BFP) and lower appendicular lean mass (ALM). 41.8% of the ERA patients and 19.8% of the controls were classified as having low lean mass adjusted OR 3.3 (95% C.I. 1.9-5.5, p < 0.001). 68.1% of the ERA subjects and 47.3% of the controls were overfat (adjusted OR 1.9 (95% C.I. 1.1-3.3, p = 0.02)) and the adjusted odds of having both low lean mass and overfat were 4.4 times higher (26.4% vs. 7.0% 95% C.I. 2.3-8.4, p < 0.001) among the ERA group. Higher ESR (OR 1.03, C.I.1.002-1.051, p = 0.03), CRP (OR 1.03, C.I. 1.002-1.061, p = 0.04), lower protein intake (OR 0.98 C.I. 0.96-0.99, p = 0.04), corticosteroid usage (OR 3.71 C.I. 1.4-9.9, p < 0.01) and lower quality of life (higher HAQ score OR 2.41 C.I. 1.24-4.65, p < 0.01) were associated with having low lean mass in the ERA group (adjusted to age and gender). Conclusions: Patients with early RA have lower appendicular lean mass and higher body fat percentage compared to healthy controls. Loss of lean mass in early RA is associated with elevated inflammatory markers inducing catabolism, lower protein intake and also with GCS treatment.

Clinical outcome after lipectomy in the management of patients with human immunodeficiency virus-associated dorsocervical fat accumulation: An observational cohort study.

Lipo-accumulation of the dorsocervical fat pad ("buffalo hump") is a complication observed in people living with human immunodeficiency virus (HIV). We described the clinical outcome of people living with HIV with "buffalo hump" treated by excisional lipectomy.From April 2013 to March 2018, medical records of people living with HIV, who received care in our hospital have been evaluated. Among them, patients with dorsocervical fat accumulation treated by excisional lipectomy have been retrospectively assessed.Nine patients with "buffalo hump" among 2886 people living with HIV (3.1‰, 9/2886) were included. Eight were women with a mean age of 47.9 ±â€Š8.0 years old (range, 36-60). Most of them have been infected by blood transfusion (77%, 7/9) and the mean duration of HIV infection was 14.1 ±â€Š5.5 years (range, 6-22). The mean duration for antiretroviral therapy was 8.8 ±â€Š2.1 years (range, 6-11). The mean pre-ART CD4+ T cell count was 91.3 ±â€Š76.5 cells/µL (range, 4-233) and 477.4 ±â€Š271.8 cells/µL (range, 114-926) at the time of surgery. All 9 patients underwent excisional lipectomy of their hypertrophied dorsocervical fat pad. The mean size of the excised specimens was 14 × 11 × 6 cm. The median follow-up time was 24 months (range, 2-60), all 9 patients reported satisfaction with their results, with no recurrence has been observed.Corrective surgery used to treat localized fat accumulations in people living with HIV with "buffalo hump" showed a favorable effect and can therefore be considered when necessary. Whereas drugs such as integrase inhibitors may avoid lipo-accumulation related syndrome and should be given to people living with HIV in China.

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

PIK3CA-related overgrowth spectrum (PROS) are overgrowth diseases involving mesenchymal tissues caused by postzygotic variants in the PIK3CA gene. Fibro-Adipose hyperplasia or Overgrowth (FAO) belongs to PROS. We reported the beneficial effect of oral low-dose sirolimus therapy in a child affected by progressive FAO in term of stabilization of the disease, good tolerability, and easy management.

Lipomeningocele associated with diplomyelia in a dog.

A 2-year-old male neutered mixed breed dog with a body weight of 30 kg was presented for evaluation of a soft subcutaneous mass on the dorsal midline at the level of the caudal thoracic spine. A further clinical sign was intermittent pain on palpation of the area of the subcutaneous mass. The owner also described a prolonged phase of urination with repeated interruption and re-initiation of voiding. The findings of the neurological examination were consistent with a lesion localization between the 3rd thoracic and 3rd lumbar spinal cord segments. Magnetic resonance imaging revealed a spina bifida with a lipomeningocele and diplomyelia (split cord malformation type I) at the level of thoracic vertebra 11 and 12 and secondary syringomyelia above the aforementioned defects in the caudal thoracic spinal cord. Surgical resection of the lipomeningocele via a hemilaminectomy was performed. After initial deterioration of the neurological status postsurgery with paraplegia and absent deep pain sensation the dog improved within 2 weeks to non-ambulatory paraparesis with voluntary urination. Six weeks postoperatively the dog was ambulatory, according to the owner. Two years after surgery the owner recorded that the dog showed a normal gait, a normal urination and no pain. Histopathological diagnosis of the biopsied material revealed a lipomeningocele which confirmed the radiological diagnosis.

Are Patellofemoral Joint Alignment and Shape Associated With Structural Magnetic Resonance Imaging Abnormalities and Symptoms Among People With Patellofemoral Pain?

BACKGROUND: Patellofemoral malalignment has been observed among people with patellofemoral pain (PFP) and may be associated with the presence of imaging features of osteoarthritis, symptoms, and function. PURPOSE: To determine whether patellofemoral joint alignment and bony shape are associated with (1) cartilage, bone, and soft tissue morphological abnormalities defined on magnetic resonance imaging (MRI) and (2) reported symptoms and function among people with PFP. STUDY DESIGN: Cross-sectional study; Level of evidence, 3. METHODS: Participants (mean ± SD age, 30.2 ± 9.5 years; range, 14-50 years; 78 females, 58.6%) completed questionnaires regarding demographics, pain, symptoms, and function and underwent a 3-T MRI scan of their more symptomatic eligible knee. Structural MRI abnormalities were scored with the MOAKS (Magnetic Resonance Imaging Osteoarthritis Knee Score), and MRI alignment and shape were measured with standardized methods. Associations among MOAKS features, PFP symptoms, and alignment and shape measures were evaluated with regression analyses (α = .05). RESULTS: Minor cartilage defects were present in 22 (16.5%) participants, patellar osteophytes in 83 (62.4%), anterior femur osteophytes in 29 (21.8%), Hoffa synovitis in 81 (60.9%), and prefemoral fat pad synovitis in 49 (36.8%). A larger Insall-Salvati ratio was significantly associated with the presence of patellar osteophytes (odds ratio [OR], 51.82; 95% CI, 4.20-640.01), Hoffa synovitis (OR, 60.37; 95% CI, 4.66-782.61), and prefemoral fat pad synovitis (OR, 43.31; 95% CI, 4.28-438.72) in the patellofemoral joint. A larger patellar tilt angle was significantly associated with the presence of minor cartilage defects (OR, 1.10; 95% CI, 1.00-1.20), the presence of patellar osteophytes (OR 1.12; 95%CI 1.02-1.22), and prefemoral fat pad synovitis (OR, 1.11; 95% CI, 1.03-1.20) in the patellofemoral joint. Finally, a larger bisect offset was significantly associated with the presence of minor cartilage defects (OR, 1.05; 95% CI, 1.00-1.11) and patellar osteophytes (OR, 1.07; 95% CI, 1.01-1.14) in the patellofemoral joint. The majority of patellofemoral alignment measures were not associated with symptoms or function. CONCLUSION: For people with PFP, the presence of morphological abnormalities defined on MRI appears to be related to particular patellofemoral alignment measures, including higher Insall-Salvati ratio (indicating patella alta), larger patellar tilt angle (indicating greater lateral tilt), and larger bisect offset (indicating greater lateral displacement). Hardly any associations were found with symptoms or function. So there might be a distinct subgroup of PFP that is more prone to developing patellofemoral osteoarthritis later in life, as particular alignment measures seem to be associated with the presence of patellar osteophytes. Prospective studies are required to investigate the longitudinal relationship between alignment or bony shape and morphological abnormalities defined on MRI in this patient population.

Incorporating Refractory Period in Mechanical Stimulation Mitigates Obesity-Induced Adipose Tissue Dysfunction in Adult Mice.

OBJECTIVE: The aim of this study was to determine whether inclusion of a refractory period between bouts of low-magnitude mechanical stimulation (LMMS) can curb obesity-induced adipose tissue dysfunction and sequelae in adult mice. METHODS: A diet-induced obesity model that included a diet with 45% of kilocalories from fat was employed with intention to treat. C57BL/6J mice were weight matched into four groups: low-fat diet (LFD, n = 8), high-fat diet (HFD, n = 8), HFD with one bout of 30-minute LMMS (HFDv, n = 9), and HFD with two bouts of 15-minute LMMS with a 5-hour separation (refractory period, RHFDv, n = 9). Two weeks of diet was followed by 6 weeks of diet plus LMMS. RESULTS: HFD and HFDv mice continued gaining body weight and visceral adiposity throughout the experiment, which was mitigated in RHFDv mice. Compared with LFD mice, HFD and HFDv mice had increased rates of adipocyte hypertrophy, increased immune cell infiltration (B cells, T cells, and macrophages) into adipose tissue, increased adipose tissue inflammation (tumor necrosis factor alpha gene expression), and a decreased proportion of mesenchymal stem cells in adipose tissue, all of which were rescued in RHFDv mice. Glucose intolerance and insulin resistance were elevated in HFD and HFDv mice, but not in RHFDv mice, as compared with LFD mice. CONCLUSIONS: Incorporating a 5-hour refractory period between bouts of LMMS attenuates obesity-induced adipose tissue dysfunction and improves glucose metabolism.

Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.

Classic Ehlers-Danlos syndrome (cEDS) is characterized by fragile, hyperextensible skin and hypermobile joints. cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which encode the α2(V) and α1(V) chains, respectively, of collagen V, and is most often caused by COL5A1 null alleles. However, COL5A2 null alleles have yet to be associated with cEDS or other human pathologies. We previously showed that mice homozygous null for the α2(V) gene Col5a2 are early embryonic lethal, whereas haploinsufficiency caused aberrancies of adult skin, but not a frank cEDS-like phenotype, as skin hyperextensibility at low strain and dermal cauliflower-contoured collagen fibril aggregates, two cEDS hallmarks, were absent. Herein, we show that ubiquitous postnatal Col5a2 knockdown results in pathognomonic dermal cauliflower-contoured collagen fibril aggregates, but absence of skin hyperextensibility, demonstrating these cEDS hallmarks to arise separately from loss of collagen V roles in control of collagen fibril growth and nucleation events, respectively. Col5a2 knockdown also led to loss of dermal white adipose tissue (WAT) and markedly decreased abdominal WAT that was characterized by miniadipocytes and increased collagen deposition, suggesting α2(V) to be important to WAT development/maintenance. More important, Col5a2 haploinsufficiency markedly increased the incidence and severity of abdominal aortic aneurysms, and caused aortic arch ruptures and dissections, indicating that α2(V) chain deficits may play roles in these pathologies in humans.

Point-of-Care Ultrasound: Sonographic Posterior Fat Pad Sign: A Case Report and Brief Literature Review.

BACKGROUND: Diagnosis of elbow fracture can sometimes be difficult with plain radiography due to overlapping bones, growth plates, and maturing bones in the pediatric population. The radiographic posterior fat pad (PFP) sign is one of the frequently referenced indirect signs of an occult elbow fracture. This sign can be falsely negative if the sign is subtle, and can be falsely positive when the position of the elbow is not flexed at 90 degrees. CASE REPORT: We discuss a case in which sonographic PFP sign helped to diagnose an elbow fracture. A 57-year-old female presented to the emergency department (ED) after a fall on an outstretched hand. The point-of-care ultrasound (POCUS) was completed identifying an elevated PFP and an anechoic joint fluid collection with innumerous floating hyperechogenic spicules visualized in the olecranon fossa. Diagnosis of a radial head fracture was later confirmed by plain radiograph. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: The increase in use and availability of POCUS in the ED makes this a very practical application. Our ability to rapidly perform the ultrasound of the elbow may allow us a more rapid diagnosis of pathology, as well as provide a way to further triage our patients. With time, it may even allow us to avoid routine use of plain radiography.

Becker Naevus Syndrome of the Lower Body: One Case and Review of the Literature.

Becker naevus syndrome is a rare epidermal naevus syndrome defined by the co-occurrence of a Becker naevus with various cutaneous, muscular and skeletal anomalies. In the majority of cases, abnormalities exclusively consist of ipsilateral hypoplasia of the breast, areola and/or nipple in addition to the naevus. Here, we report on a 42-year-old woman with an extensive Becker naevus reaching from the left buttock to the left calf verified on histological examination. In addition, there was marked hypoplasia of the fatty tissue of the left thigh confirmed by magnetic resonance imaging in contrast to hyperplasia of the fatty tissue of the left gluteal area. Underlying muscles and bones were not affected. There was no difference in leg lengths. In addition, we review and discuss the features of Becker naevus syndrome with emphasis on 10 reported cases with involvement of the lower body.

What is your diagnosis?

CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.

What is your diagnosis?

Abstract: CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.

Endoscopic submucosal dissection for a gastric fibrolipoma

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The Heel Pad in Congenital Idiopathic Clubfoot: Implications of Empty Heel for Clinical Severity Assessment.

BACKGROUND: Clubfoot has been evaluated in many ways, including the most common classifications of clubfoot, described by Caterrall and Piraniis based on six clinical signs. The purpose of this study was to gain better understanding of the heel pad in relation to the term "empty heel", and to propose modification of clubfoot severity scoring system based on "empty heel". METHODS: A combination of prospective study of 79 clubfoot patients treated with Ponseti method and literature review of heel pad anatomy and biomechanics. The setting was a university teaching hospital. The ethical research committee approved study protocol and informed consent of patients' parent obtained. The selection criteria included patients' diagnosed congenital idiopathic clubfoot, age < 2 years, no history of previous treatment and tenotomy indicated. An evaluation of patient was assessed by orthopaedic surgeons trained on Ponseti method and has above 5 years experience. Data analysis performed on the age, sex, Pirani scores at onset of treatment, tenotomy, and 6 month after initial full correction. RESULTS: One hundred and thirty-two clubfeet in 79 patients (56 males, 23 females) completed Ponseti protocol. The median age at presentation was 5.2 months (range 0.1-23.7 months). The mean right foot abduction after correction 57.30 (S.D. 9.20), and for the left foot, was 56.30 (S.D. 9.40). The mean right foot dorsiflexion was -13.70 (S.D. 18.40) before correction while after correction, it was 20.00 (S.D. 4.50) and for the left, the mean was -8.50 (S.D. 9.60) before correction and 21.00 (S.D. 4.30) after correction. Eighteen (22.8%) patients (10 bilateral, 9 unilateral) had clubfeet with empty heel score above zero point at initial full correction (p<0.001). Clinic anatomy shows the heel pad is a solid complex structure existing in normal, moderate and severe atrophied form. Heel pad is attached tightly to calcaneus without a cavity for the calcaneus to drop. CONCLUSIONS: Heel pad probably could replace "empty heel" in modify Pirani scoring system. Clinical indication for repeat tenotomy should be based on equinus, not on the feeling of an empty heel, and families can be advised that the heel pad has a tendency to remodel over time to a normal shape. LEVEL OF EVIDENCE: Level II. CLINICAL RELEVANCE: Empty heel feeling at initial full correction of congenital idiopathic clubfoot based on Ponseti protocol is not indication for repeat tenotomy.