Bayhealth Foundation

Amyloidosis is increasingly recognized as a contributor to heart failure, particularly among older adults and patients with heart failure with preserved ejection fraction (HFpEF). Despite advances in diagnostic imaging and disease-modifying therapies, amyloidosis remains underdiagnosed in many settings, and population-level data examining its co-occurrence with cardiovascular disease on death certificates are limited. This study examined two decades of national mortality data to evaluate deaths co-coded with amyloidosis and cardiovascular disease (CVD) in the United States and to assess temporal trends and demographic disparities in age-adjusted mortality rates. A retrospective analysis was conducted using mortality data from the CDC WONDER database spanning 1999-2020. Age-adjusted mortality rates (AAMRs) per 1,000,000 persons were calculated, and trends were assessed using Average Annual Percentage Change (AAPC) and Annual Percent Change (APC) using Joinpoint 5.0.2. Between 1999 and 2020, 26,391 amyloidosis and CVD-related deaths occurred among adults aged 25 years and older in the United States. The overall AAMR for deaths co-coded with amyloidosis and CVD increased from 4.40 in 1999 to 9.31 in 2020, with an AAPC of 3.49 (p < 0.001). The most pronounced increase occurred between 2018 and 2020 (APC: 13.60). Rates were higher among men than women, with both sexes showing a marked increase in the last decade. African American or Black individuals had the highest rates (11.40), followed by White (5.11) and Hispanic (3.86) individuals. Rates were highest in the Northeast region (6.71). Metropolitan areas had higher rates than non-metropolitan areas (5.73 vs. 4.76), with a more pronounced increase in metropolitan regions. Age-adjusted mortality rates for deaths co-coded with amyloidosis and cardiovascular disease have increased over time, likely reflecting improved recognition and documentation. Higher rates of co-coded deaths were noted among men, African Americans, and individuals in the Northeast region, highlighting potential disparities in diagnostic access and recognition.

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Familial erythrocytosis type 3 (ECYT3) is a rare condition caused by loss of function germline mutations in the prolyl hydroxylase domain-2 (PHD2), a regulator in the hypoxia-sensing pathway. Although mutations in PHD2 have been previously described, this particular variant lacks clinical characterization and presents with an aggressive course. We report the case of a patient with vasomotor symptoms and elevations in hematocrit (HCT) and hemoglobin (Hgb) despite frequent therapeutic phlebotomy. He had a family history of erythrocytosis spanning four generations. Germline genetic testing revealed a rare pathogenic variant of PHD2, confirming a diagnosis of ECYT3. Therapeutic phlebotomy yielded only transient Hgb and HCT reductions and only partial symptomatic control. This case highlights the diagnostic challenges and limitations of current treatments for hereditary erythrocytosis and underscores the need for symptom-centered management strategies. Furthermore, we highlight a gap in the literature around the pathophysiology and management of ECYT3.

Granulomatosis with polyangiitis (GPA) is a rare autoimmune vasculitis affecting small and medium-sized vessels, commonly involving the respiratory tract and kidneys. Salivary gland involvement, particularly bilateral parotitis, is an uncommon presentation of GPA. We report the case of a 38-year-old Asian male who presented with left ear pain and parotid swelling after a water park visit. Initially treated with antibiotics for suspected otitis externa, his symptoms worsened, leading to bilateral parotitis, facial palsy, and otomastoiditis. Imaging revealed parotid abscesses and lab results showed elevated antineutrophil cytoplasmic antibodies (ANCA), specifically cytoplasmic ANCA directed against proteinase 3, confirming the diagnosis of GPA. Cultures and autoimmune workups for other causes, such as Sjogren's syndrome and immunoglobulin G4-related disease, were negative. Treatment with high-dose corticosteroids and methotrexate resulted in significant clinical improvement. This case highlights the importance of considering GPA in atypical presentations such as parotitis, even in the absence of renal involvement. Early diagnosis and appropriate immunosuppressive therapy are critical to prevent further complications in multisystem involvement. This case highlights the importance of recognizing atypical manifestations of granulomatosis with polyangiitis (GPA), such as bilateral parotitis, which aids in diagnosing and treating rare presentations more effectively.It emphasizes the need to expand differential diagnoses of salivary gland involvement, guiding the distinction of GPA from other similar conditions when antibiotics fail.By highlighting a rare presentation of GPA, this case improves diagnostic understanding in autoimmune diseases, enabling earlier interventions and leading to better patient outcomes.

We present an interesting case of mycobacterial tuberculosis pericarditis presenting as effusive constrictive pericarditis with early cardiac tamponade in a young Mexican migrant of Haitian descent. The patient underwent a pericardial window and was treated with rifampin, isoniazid, pyrazinamide, ethambutol, and vitamin B6. After further receiving steroids, the patient was doing well and was discharged home safely.

Relapsing polychondritis (RPC) is a rare autoimmune condition that often mimics recurrent external otitis. This multisystemic disease primarily affects cartilaginous structures in the body, with the ear pinna being the most commonly impacted. RPC is associated with elevated inflammatory markers and antinuclear antibodies (ANA), and it can lead to chondral destruction. Our case is a 74-year-old Caucasian male with a history of peripheral vascular disease (PVD) who presented to the clinic with recurrent, painful swelling of the right upper ear for 14 days despite multiple antibiotics and nonsteroidal anti-inflammatory drugs (NSAIDs).He had chronic sensorineural hearing loss in the same ear. He was seen multiple times with identical symptoms in the last seven months and was diagnosed with otitis externa. He denied arthritis, fatigue, rash, abrasion, allergies, trauma, or fever. He was prescribed antimicrobials, alternating NSAIDs, and methylprednisolone with temporary relief.He is only on statins and has an unremarkable family history. He was afebrile with normal vital signs. On physical examination, he was not in acute distress and had a normal voice but had a diffusely erythematous, tender, swollen right ear pinna and external canal sparing the lobe. The rest of the physical examination was unremarkable.Laboratory results showed elevated C-reactive protein (CRP) of 100 mg/L (normal range: <3 mg/L) and erythrocyte sedimentation rate (ESR) of 200 mm/hour (normal range: <20 mm/hour). ANA titer is 1:160 with a homogenous pattern, but other autoantibodies were negative. No red flags were noted on the complete blood count (CBC) or comprehensive metabolic panel (CMP), and his rapid plasma reagin (RPR) test was negative. In this patient, prednisone 60 mg daily was initiated as monotherapy, and rheumatology was also consulted. The patient sought consultation due to recurrent and persistent upper ear infections despite antibiotic treatment and was ultimately diagnosed with a rare medical condition called relapsing polychondritis. Following this treatment, the auricular chondritis improved promptly. The steroid dosage was then slowly tapered and maintained at 10 mg daily to prevent flare-ups. Subsequently, after the initiation of corticosteroids, inflammatory markers trended down to normal levels.