United States

Chronic Venous Insufficiency is a prevalent condition characterized by dysfunctional venous hemodynamics, resulting in a spectrum of clinical manifestations such as venous leg ulcers (VLUs). Herein, we report the case of a symptomatic 54-year-old male with bilateral VLUs persisting for four years despite adherence to compression therapy. Comprehensive ultrasound examinations revealed bilateral lower extremity venous incompetence and reflux. Shortly thereafter, multipronged interventions comprising radiofrequency endovenous ablation, ultrasound-guided sclerotherapy, and endovenous laser ablation targeted the venous insufficiency; however, the recalcitrant VLUs persisted despite symptom improvement. Exploratory imaging elucidated previously undetected bilateral perforators, as a post-surgical hemodynamic equilibrium might have decreased local blood stagnation and enhanced perforator perfusion. Compellingly, the follow-up interventions resulted in complete ulcer healing and symptom resolution. Altogether, our case underscores the collective impact of care continuity, meticulous spatiotemporal vascular mapping, and a patient-tailored approach to treat recalcitrant VLUs.

AMA Research Challenge 2023

Undetected Perforator Vein Incompetence Responsible for Recalcitrant Leg Ulcers

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Background: Adrenal myelolipomas are benign, lipid-filled masses containing elements of interspersed myeloid cells and comprise approximately 3-6% of all adrenal masses. Epidemiologically, adrenal myelolipomas affect both sexes equally and are often discovered in middle age. These masses are typically unilateral and variable in size, with macroscopic fat as a diagnostic feature on imaging. Notably, patients with congenital adrenal hyperplasia (CAH) are more likely to present with large bilateral myelolipomas, and, as such, patients presenting with these features should be evaluated for concurrent CAH.
Case presentation: In this report, a 34-year-old male presented to the emergency department following an alleged assault on his abdomen. During his trauma evaluation, he received a CT scan of the abdomen, demonstrating large bilateral adrenal incidentalomas with pathognomonic features of macroscopic fat (Hounsfield unit -90 to -120) consistent with adrenal myelolipomas. The left and right adrenal masses were reported at 20 cm and 14 cm, respectively. On further questioning, he endorsed a past medical history of CAH and noncompliance with glucocorticoid and mineralocorticoid therapy associated with a chronic history of abdominal discomfort. On physical exam, palpable bilateral abdominal masses at the levels of adrenals were appreciated. This patient received appropriate lab and imaging to confirm the diagnosis of bilateral adrenal myelolipomas. He successfully underwent bilateral open adrenalectomy, is currently on maintenance glucocorticoid and fludrocortisone therapy, and is doing well one year post-operation.
Discussion: Adrenal myelolipomas are benign masses of mature adipocytes and scattered myeloid cells. They are the second most common benign adrenal masses following adrenal adenomas. While they are usually found unilaterally and incidentally, they can present bilaterally and symptomatically, especially in CAH, a group of genetic enzyme deficiencies involving steroidogenesis. There are three working hypotheses explaining adrenal myelolipoma's prevalence in CAH: 1) Increased adrenocorticotropic hormone (ACTH) leads to constitutive stimulation of the adrenal cortices, resulting in hyperplasia 2) Stress, infection, and trauma induce metaplastic transformation of the reticuloendothelial cells in the adrenal gland and 3) Granulocyte stimulating factor recruiting mesenchymal stem cells and circulating bone marrow which adrenocortical adipocytes are derived from.
The size and presence or severity of symptoms are essential in guiding management. Larger masses (> 4 cm) more commonly present with mass effects and possible complications of hemorrhage and, therefore, are surgically excised. Smaller masses and asymptomatic cases can be followed yearly with imaging. For masses larger than 10 cm, as in this patient, midline laparotomy is preferred to the laparoscopic surgical approach.

Large Bilateral Adrenal Myelolipomas in a 34-year old Male with Congenital Adrenal Hyperplasia

Bilateral synchronous testicular tumors are a relatively uncommon occurrence, especially when they involve germ cell tumors of different histology. In this context, we present a compelling case report of a male patient who was diagnosed with bilateral synchronous germ cell testicular tumors, with one being a seminoma and the other a non-seminomatous germ cell tumor (NSGCT). The coexistence of two distinct histological types, seminoma and NSGCT, necessitates a comprehensive diagnostic approach to accurately identify and characterize each tumor. This underscores the importance of clinical history, physical examination, imaging techniques, and histopathological analysis to establish an appropriate diagnosis. Careful consideration must be given to factors such as tumor stage, histological subtype, and individual patient characteristics to determine the most suitable treatment strategy. Treatment options may encompass a combination of surgery, chemotherapy, and radiation therapy, tailored to each tumor's specific characteristics and the patient's overall health. By highlighting this unique case, we aim to underscore the significance of meticulous evaluation and accurate diagnosis when confronted with bilateral synchronous testicular tumors of different histology.


Exceedingly Rare Bilateral Synchronous Germ Cell Testicular Tumors With Different Histopathological Features

Tumor lysis syndrome (TLS) occurs when tumor cells lyse and empty their contents into the bloodstream. TLS can occur in response to therapy or spontaneously, and it is most commonly seen in high-grade lymphomas, acute leukemias, and other rapidly proliferating tumors. For multiple myeloma (MM), the risk of RLS is less than one percent, and the risk of spontaneous TLS is even rarer. Therefore, we present a rare case of spontaneous TLS in MM. This case met the 2004 Cairo-Bishop laboratory criterion as well as the clinical TLS criterion for diagnosis and was treated with rasburicase as per guideline recommendations. We hope to educate others on such a presentation especially given the emergent nature of treatment and the increasing incidence of this disease.

A Rare Case of Spontaneous Tumor Lysis Syndrome in Multiple Myeloma

Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare autoimmune disorder related to aquaporin-4 IgG (AQP4-IgG) antibody. Sometimes, NMOSD patients don't have this antibody, called seronegative NMOSD. Extremely rarely, this condition presents as a paraneoplastic syndrome. This presentation illustrates a case of paraneoplastic AQP4-IgG seronegative NMOSD.

A Rare Case of Paraneoplastic AQP4-IgG Negative Neuromyelitis Optica Spectrum Disorder

Factors 8 and 9 play pivotal roles in the activation of factor 10 in the coagulation cascade. In acquired factor 8 inhibitor, IgG autoantibodies bind to factor 8 molecules causing a functional factor 8 deficiency. Incidence is exceedingly rare at one to four per million per year. We discuss a case of severe acquired factor 8 defiency and discuss the diagnostic and treatment approach.

Diagnostic and Therapeutic Complexities in a Case of Severe Acquired Factor 8 
Deficiency

Background
This case presented with symptomatic anemia shortly after being diagnosed in NOV/2021 with Invasive Ductal Carcinoma in the left breast T4N2M0. She had chest pain, dry cough, epigastric pain, nausea and generalized fatiguability 3 weeks prior, no past medical history, but significant positive family history for non-Hodgkin Lymphoma. However, finding compatible blood units was very challenging and transfusion dependency was developed. The main approach is to reach clinical stability when she can receive the first cycle of neoadjuvant chemotherapy.

Methods
A complete blood profile, hemolysis indicators, Hb electrophoresis, CT scan of the abdomen was required to evaluate the case and bone marrow aspiration, biopsy, and immunohistochemistry study. Numerous PRBC units were given to support the patient under close monitoring with oral prednisolone, cyclophosphamide, and IVIg.
Result
She shows a hemolytic pattern with hemoglobin level at 6.3g/dl, with mild neutrophilia, normal platelets, reticulocytosis, indirect hyperbilirubinemia, positive direct Coomb’s test and high serum ferritin at 1045ng/L . However, the haptoglobin was not detected, MCV was normal, LDH level was not elevated at 170 U/L, normal vitamin B12, liver enzymes, urea and electrolytes and uric acid,. Her blood group was A+, the HB electrophoresis showed HbA 97.5%, HbA2 2.5% and CT scan of abdomen revealed mild hepatosplenomegaly. The peripheral blood film shows Anisocytosis, neutrophilia and normal platelet, and bone marrow biopsy showed no malignant infiltration. An immunohistochemistry study shows that the malignant cells are positive for CK (Creatine kinase) and Mammaglobin while they are negative for LCA, CD20, CD3 and GCDFP15.

Conclusion 
Autoimmune hemolytic anemia (AIHA) is recognized relatively rare with solid tumors as a paraneoplastic syndrome. However, in this case due to her family history, lymphoma must be excluded by bone marrow biopsy and immunohistochemistry study. Patient did respond well to prednisolone nevertheless complicated by diabetes mellitus and gouty arthritis and received numerous units of packed red blood cells, her anemia was corrected and patient was fit to

A case report of autoimmune hemolytic anemia in a newly diagnosed patient with breast cancer Challenging transfusion dependency that interferes with neoadjuvant chemotherapy

We present a patient with antiphospholipid syndrome and thrombocytopenia that was found to have a rare mutation in the Vitamin K epoxide reductase complex subunit 1 which altered his response to Warfarin therapy. The patient had experienced multiple prior thrombolic events, however his low platelet count put him in danger of having a severe bleeding event. We describe below how we found a balance in managing both his clotting and bleeding risks.

Management of Recurrent Arterial Clots in Antiphospholipid Syndrome with Thrombocytopenia and Warfarin Resistant Gene

Background
Immune thrombocytopenia (ITP) is an isolated autoimmune condition most often heralded by viral infections such as HIV, Hepatitis C, and H. pylori. Few cases of documented ITP with influenza vaccinations and many cases with COVID-19 vaccines. However, reported cases of concomitant vaccine administration with ITP are not only rare but rather make it difficult to find the culprit vaccine. 

Case Presentation
A 92-year-old male with history of history of prostate cancer in remission, hyperlipidemia, & hypertension admitted for a fall. Patient had no recollection of his history. Vitals showed a hemodynamically stable patient with physical exam positive for generalized petechiae with concomitant ecchymoses all over his body. CBC showed platelets (PLTs) < 10,000. Imaging was negative. He was on chronic medications including simvastatin, losartan, and nifedipine. Immunization records indicated inactivated influenza and concomitant covid-19 Pfizer vaccination 1 week prior to admission. Investigations showed no history of thrombocytopenia, no recent hospital admission(s), no recent heparin or other antiplatelet/anticoagulant usage, no new medications, and no recent illnesses. Outpatient CBC showed PLT count of 266,000 and prior to 1 year ago showed a CBC with PLT count of 322,000. Blood smear showed normocytic, normochromic anemia with polychromasia, marked thrombocytopenia with occasional megakaryocyte, and no evidence of schistocytes, dysplasia, and or blast cells. Liver enzymes, acute hepatitis screen, immunoglobulins, & HIV viral panel were all negative including echo. Diagnosis of ITP was confirmed while ruling out other causes leading to eventual culprit being concomitant dual vaccination 1 week prior to patient presentation. In agreement with hematologist, patient was started on dexamethasone 40 mg daily and supportive care. 

Discussion

Overall, there are total 239 out of 482 cases of ITP with the Pfizer-BioNtech mRNA covid-19 vaccinations and 1 case of ITP with influenza quadrivalent FluBlok vaccination reported to the vaccine adverse reporting system (VAERS) to the Center for Diseases Prevention. Our patient showed improvement in his PLTs and was discharged, but quickly returned with refractory ITP to steroids further requiring intravenous immunoglobulin administration and induction with monoclonal antibody rituximab. In another systematic review of 77 patients showed de novo ITP related to covid-19 vaccination treated as traditional ITP. Despite safety and efficacy of these vaccines, healthcare personnel should self-educate about complications of vaccine related complications to further understand the treatment and management of such fatal complications. Furthermore, data needs to be collected to establish this cause-effect relationship so that the CDC can develop guidelines for safe co-administration.

Influenza & COVID-19 Vaccine Associated Severe Immune Thrombocytopenia

Chronic diarrhoea is not an uncommon presentation in a busy gastroenterology practice, however, it proves to be interesting and challenging to make a correct diagnosis. Some of the common causes of chronic diarrhoea include inflammatory bowel disease, irritable bowel syndrome, food allergies/ sensitivities, and infections (parasitic or tuberculosis), especially in tropical countries. Rare causes of chronic diarrhoea can include infiltrative disorders of the GI system including eosinophilic enteritis, microscopic colitis, and hemato-lymphoid malignancies. [1] Systemic amyloidosis can rarely present as chronic persistent diarrhoea due to GI infiltration. In this report, we describe a 72-year-old man presenting to the gastroenterology OPD with chronic diarrhoea and significant weight loss. He underwent a detailed evaluation for the causes of chronic diarrhoea. Duodenal biopsy showed light chain amyloid deposits, which led to the diagnosis of AL (light chain) Amyloidosis. Upon further evaluation for the source of amyloidosis; a PET CT followed by an excision biopsy of the lymph node revealed low-grade Non-Hodgkins lymphoma. Despite infiltrative disorders being a rare cause of chronic diarrhoea, care should be taken to thoroughly investigate for them when common etiologies for this disease are ruled out.

Key Words: Chronic diarrhoea; amyloidosis, NHL

Chronic diarrhoea as the presenting symptom in systemic AL Amyloidosis secondary to Non-Hodgkins Lymphoma

Background 
Radiation therapy (RT) serves as the mainstay adjuvant therapy in patients that underwent breast-conserving surgery for the management of breast cancer. Radiation induced rib fracture is a rare complication of radiotherapy. 


Case Presentation 
A 57-year-old African American female presented to the hospital after an abnormal screening mammogram demonstrated left breast calcifications. A left breast core biopsy revealed an intermediate- to high- grade ductal carcinoma in situ. The mass was excised. On immunohistochemical receptor assay, the mass was found to be estrogen receptor (+) and progesterone receptor (+). The patient was counselled on the initiation of adjuvant radiotherapy as part of the treatment regimen. 

Six months after her radiotherapy, the patient presented with a month-long discomfort on the left lower quadrant of her left breast, which aggravated with movement, despite the absence of trauma or falls. An X-ray demonstrated a subtle fracture of the tip of the left 10th rib and the lateral aspect of the left 7th rib, and the patient was treated conservatively. 

A PET-CT scan a month later showed a minimally displaced fracture of the left anterolateral 7th rib. The previously noted subtle fracture on the 10th rib was not appreciated on this examination. The patient returned to the clinic reporting a decreased pain intensity. A month later, the patient no longer had chest pain or discomfort and was informed that her subtle fractures have healed. 


Discussion 
Radiation-induced rib fractures (RIRF) refer to the occurrence of rib fractures after radiotherapy to the region close to a rib or within a path of a rib. They are considered pathological fractures, as they happen in underlying abnormal bone affected by radiation therapy. 

RIRFs are rare especially after hypofractionated stereotactic body radiation therapy (SBRT). It was reported that the incidence of RIRF with whole breast dose <50 Gy was 1.5% and >50 Gy was 5.3%. High-dose volume and the maximum dose have a direct relationship with RIRF. The toxic effects of radiation reduce osteoblast function and therefore, decreases bone matrix production leading to pathological fractures. The bones within the radiation portal are weakened, particularly if the primary irradiated tumor is close to the chest wall.

These patients may be asymptomatic or symptomatic and present with chest discomfort or pain after a few months of radiation. These symptoms usually resolve conservatively; therefore, a follow up of the patient and imaging should be considered.

Next from AMA Research Challenge 2023

Large Bilateral Adrenal Myelolipomas in a 34-year old Male with Congenital Adrenal Hyperplasia