What diseases can cause facial swelling, neck swelling, and fluid retention?

Diseases Causing Facial Swelling, Neck Swelling, and Fluid Retention

The most critical diseases to consider when a patient presents with facial swelling, neck swelling, and fluid retention are superior vena cava (SVC) syndrome from malignancy, cardiac failure, cirrhosis, nephrotic syndrome, and nephritic syndrome—each requiring immediate recognition to prevent mortality and morbidity.

Life-Threatening Causes Requiring Urgent Evaluation

Superior Vena Cava (SVC) Syndrome

• SVC obstruction causes the characteristic triad of neck swelling, facial swelling (including eyelid edema), and arm swelling due to elevated upper body venous pressure 1
• Lung cancer accounts for 72% of SVC syndrome cases (50% non-small cell lung cancer, 22% small cell lung cancer), making this the most common malignant cause 1
• Additional symptoms include dyspnea, headache from cerebral venous hypertension, hoarseness, and cyanosis 1
• While historically considered a medical emergency, SVC syndrome now warrants prompt expedited care rather than emergent treatment, allowing time for histologic diagnosis before therapy 1
• Management includes head elevation to decrease hydrostatic pressure and cerebral edema, with loop diuretics considered for severe cerebral edema 1

Cardiac Disease

• Congestive heart failure causes generalized edema through secondary sodium retention driven by contracted effective arterial blood volume (EABV), leading to facial puffiness, neck vein distension, and peripheral fluid retention 2
• The kidneys retain sodium and water in response to decreased cardiac output and reduced renal perfusion 2
• Physical examination reveals jugular venous distension, peripheral edema, and signs of volume overload 3, 4

Systemic Diseases with Fluid Retention

Hepatic Cirrhosis

• Cirrhosis causes fluid retention through multiple mechanisms including portal hypertension, hypoalbuminemia, and activation of sodium-retaining systems 1, 2
• Patients develop ascites as the primary manifestation, but can also present with facial edema and neck swelling when fluid retention is severe 1
• The serum-ascites albumin gradient (SAAG) ≥1.1 g/dL confirms portal hypertension as the cause 1
• Approximately 5% of patients have multiple causes of fluid retention (e.g., cirrhosis combined with heart failure or nephrotic syndrome) 1

Nephrotic Syndrome

• Nephrotic syndrome causes primary sodium retention within the kidney itself, leading to periorbital edema (especially facial swelling upon waking), generalized edema, and fluid accumulation 2, 5
• The traditional view that edema results from hypoalbuminemia and decreased oncotic pressure is likely incorrect—most patients have primary salt retention from the glomerulopathy itself 5
• Characterized by proteinuria >3.5 g/day, hypoalbuminemia, hyperlipidemia, and edema 3, 6

Acute Glomerulonephritis (Nephritic Syndrome)

• Nephritic edema results from primary salt retention within the kidney, causing rapid onset of facial and periorbital swelling, often with hypertension 5
• Unlike nephrotic syndrome, EABV becomes expanded (not contracted) as salt and water are added to a previously normal volume state 5
• The prototypical form is acute post-streptococcal glomerulonephritis 5

Rare but Important Systemic Diseases

Rosai-Dorfman-Destombes Disease (RDD)

• Massive painless cervical lymphadenopathy is the hallmark, occurring in 90% of cases, often with bilateral involvement causing significant neck swelling 1
• Constitutional symptoms include fevers, night sweats, and fatigue 1
• Head and neck manifestations include cervical swelling, nasal obstruction, facial asymmetry, and tongue enlargement 1
• Physical examination reveals enlarged cervical nodes, and patients may have concurrent systemic involvement 1

Erdheim-Chester Disease (ECD)

• Cardiovascular involvement occurs commonly, with pericardial disease in 40-45% of patients causing pericardial effusion and potential facial/neck swelling from venous congestion 1
• The "coated aorta" (circumferential soft-tissue sheathing) is present in two-thirds of patients 1
• Retroperitoneal infiltration can cause fluid retention and systemic edema 1

Kawasaki Disease

• In the acute phase, bilateral bulbar conjunctival injection, erythema and edema of hands and feet, and cervical lymphadenopathy ≥1.5 cm (usually unilateral) are diagnostic features 1
• Facial and neck swelling can occur from cervical lymphadenopathy with associated retropharyngeal edema 1
• Primarily affects children, but adult cases occur 1

Critical Diagnostic Approach

Red Flags for Malignancy (Especially SVC Syndrome)

• Age >40 years, tobacco/alcohol use, mass present ≥2 weeks, size >1.5 cm, firm consistency, fixed to adjacent tissues, and non-tender mass mandate urgent evaluation 7
• Associated symptoms include dyspnea, dysphagia, voice change, and ipsilateral otalgia 7
• The most dangerous error is assuming neck swelling is infectious and prescribing multiple antibiotic courses without definitive diagnosis, which delays cancer diagnosis 7

Initial Evaluation Strategy

• For neck swelling with facial edema and fluid retention, immediately assess for SVC syndrome signs (prominent neck veins, facial plethora, upper extremity swelling) 1
• Evaluate for cardiac failure (jugular venous distension, peripheral edema, pulmonary rales) 3
• Check for signs of liver disease (jaundice, ascites, spider angiomas) and renal disease (periorbital edema, hypertension) 1, 2
• Laboratory evaluation should include complete blood count, comprehensive metabolic panel, liver function tests, albumin, urinalysis with protein quantification, and chest imaging 1

Management Principles

• Diuretic therapy is the cornerstone for fluid retention from cardiac, hepatic, and renal causes, starting with thiazides and progressing to loop diuretics based on response 3, 6
• For cirrhotic ascites, spironolactone is the primary agent 1, 3
• SVC syndrome requires urgent oncologic evaluation and treatment of the underlying malignancy 1
• Nephrotic syndrome management begins with sodium restriction followed by diuretic therapy 3, 6